Sotsiaalministeerium · 26. august 2024
Sisu (failidest)
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
HE Ref.
Associated with document MGAAres(2024)5602406
— Multi & Mono:-v1.0
02/08/2024
EUROPEAN HEALTH AND DIGITAL EXECUTIVE AGENCY
(HADEA)
HADEA.A – Health and Food
A.3 – Health research
GRANT AGREEMENT
Project 101156595 — ERDERA
PREAMBLE
This Agreement (‘the Agreement’) is between the following parties:
on the one part,
the European Health and Digital Executive Agency (HADEA) (‘EU executive agency’ or ‘granting
authority’), under the powers delegated by the European Commission (‘European Commission’),
and
on the other part,
1. ‘the coordinator’:
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM),
PIC 999997833, established in RUE DE TOLBIAC 101, PARIS 75654, France,
and the following other beneficiaries, if they sign their ‘accession form’ (see Annex 3 and Article 40):
2. TEAMIT RESEARCH SL (TEAMIT), PIC 896104237, established in PASSE DE GRACIA 58
PLANTA 4 PUERTA 2, BARCELONA 08007, Spain,
3. DEUTSCHES ZENTRUM FUR LUFT - UND RAUMFAHRT EV (DLR), PIC 999981731,
established in LINDER HOHE, KOLN 51147, Germany,
4. AGENCE NATIONALE DE LA RECHERCHE (ANR), PIC 998711613, established in
86 RUE REGNAULT, PARIS 75013, France,
5. FONDAZIONE TELETHON ETS (FTELE), PIC 999448716, established in VIA VARESE 16/
B, ROMA 00185, Italy,
6. Lietuvos mokslo taryba (LMT), PIC 997808446, established in Gedimino 3, Vilnius LT-01103,
Lithuania,
7. ZORGONDERZOEK NEDERLAND ZON (ZonMw), PIC 999544164, established in Laan Van
Nieuw Oost Indie 334, DEN HAAG 2593 CE, Netherlands,
8. EBERHARD KARLS UNIVERSITAET TUEBINGEN (UT), PIC 999991916, established in
GESCHWISTER-SCHOLL-PLATZ, TUEBINGEN 72074, Germany,
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Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
HE Ref.
Associated with document MGAAres(2024)5602406
— Multi & Mono:-v1.0
02/08/2024
9. TARTU ULIKOOL (UTARTU), PIC 999895013, established in ULIKOOLI 18, TARTU 50090,
Estonia,
10. CONSORCIO PARA LA EXPLOTACION DEL CENTRO NACIONAL DE ANALISIS
GENOMICO (CNAG), PIC 882802433, established in C BALDIRI 1 REIXAC 4, BARCELONA
08028, Spain,
11. STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM (SRUMC), PIC
892057785, established in GEERT GROOTEPLEIN 10 ZUID, NIJMEGEN 6525 GA, Netherlands,
12. TECHNISCHE UNIVERSITAET MUENCHEN (TUM), PIC 999977463, established in
Arcisstrasse 21, MUENCHEN 80333, Germany,
13. UNIVERSITATSKLINIKUM HEIDELBERG (UKHD), PIC 999841081, established in IM
NEUENHEIMER FELD 672, HEIDELBERG 69120, Germany,
14. CRITICAL PATH INSTITUTE STICHTING (C-PATH), PIC 887895418, established in
BARBARA STROZZILAAN 101, AMSTERDAM 1083 HN, Netherlands,
15. FUNDACIO HOSPITAL UNIVERSITARI VALL D'HEBRON - INSTITUT DE RECERCA
(VHIR), PIC 999541642, established in PASSEIG VALL D HEBRON 119-129 EDIFICIO DE
RECERCA, BARCELONA 08035, Spain,
16. ACADEMISCH ZIEKENHUIS LEIDEN (LUMC), PIC 999990849, established in
ALBINUSDREEF 2, LEIDEN 2333 ZA, Netherlands,
17. UNIVERSITEIT TWENTE (UTWENTE), PIC 999900833, established in
DRIENERLOLAAN 5, ENSCHEDE 7522 NB, Netherlands,
18. UNIVERSIDAD POLITECNICA DE MADRID (UPM), PIC 999974844, established in
CALLE RAMIRO DE MAEZTU 7 EDIFICIO RECTORADO, MADRID 28040, Spain,
19. ACADEMISCH ZIEKENHUIS GRONINGEN (UMCG), PIC 999914801, established in
HANZEPLEIN 1, GRONINGEN 9713 GZ, Netherlands,
20. STICHTING AMSTERDAM UMC (AUMC), PIC 919322739, established in DE
BOELELAAN 1117, AMSTERDAM 1081 HV, Netherlands,
21. UNIVERSITEIT MAASTRICHT (UM), PIC 999975911, established in
MINDERBROEDERSBERG 4, MAASTRICHT 6200 MD, Netherlands,
22. EATRIS ERIC (EATRIS), PIC 941506445, established in DE BOELELAAN 1118,
AMSTERDAM 1081 HZ, Netherlands,
23. FONDAZIONE PER LA RICERCA FARMACOLOGICA GIANNI BENZI ONLUS (FGB),
PIC 962478330, established in VIA ABATE EUSTASIO 30, VALENZANO BARI 70010, Italy,
24. ASSISTANCE PUBLIQUE HOPITAUX DE PARIS (APHP), PIC 999645432, established in
55 BOULEVARD DIDEROT, PARIS 75012, France,
25. UNIVERSITEIT HASSELT (UHASSELT), PIC 999874934, established in
MARTELARENLAAN 42, HASSELT 3500, Belgium,
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Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
HE Ref.
Associated with document MGAAres(2024)5602406
— Multi & Mono:-v1.0
02/08/2024
26. EURORDIS - RARE DISEASES EUROPE (EURORDIS), PIC 965288323, established in
RUE DIDOT 96, Paris 75014, France,
27. VIESOJI ISTAIGA VILNIAUS UNIVERSITETO LIGONINE SANTAROS KLINIKOS
(VULSK), PIC 991636530, established in SANTARISKIU G 2, VILNIUS LT-08661, Lithuania,
28. UNIVERSIDADE DE COIMBRA (UC), PIC 997826391, established in PACO DAS
ESCOLAS, COIMBRA 3004-531, Portugal,
29. FONDATION MALADIES RARES (FFRD), PIC 954438485, established in RUE DIDOT 96,
PARIS 75014, France,
30. ASS FRANCAISE CONTRE LES MYOPATHIES (AFM), PIC 959828387, established in
47-83 47 BOULEVARD DE L'HOPITAL, INSTITUT DE MYOLO, PARIS 75013, France,
31. BERNU KLINISKA UNIVERSITATES SLIMNICA VALSTS SIA (CCUH), PIC 904374748,
established in VIENIBAS GATVE 45, RIGA 1004, Latvia,
32. AICIB - AGENCIA DE INVESTIGACAO CLINICA E INOVACAO BIOMEDICA
(AICIB), PIC 892687606, established in RUA DE SANTA CATARINA 1288, PORTO 4000-447,
Portugal,
33. INSTITUT ZA MOLEKULARNU GENETIKU I GENETICKO INZENJERSTVO
(IMGGE), PIC 986427921, established in VOJVODE STEPE 444A, BEOGRAD 11010, Serbia,
34. RARE DISEASES INTERNATIONAL (RDI), PIC 881348694, established in 96 RUE DIDOT,
PARIS 75014, France,
35. ACIBADEM MEHMET ALI AYDINLAR UNIVERSITY (ACU), PIC 959704421, established
in ICERENKOY MAH. KAYISDAGI CAD. NO/32 ATASEHIR, ISTANBUL 34752, Türkiye,
36. AIT AUSTRIAN INSTITUTE OF TECHNOLOGY GMBH (AIT), PIC 999584128,
established in GIEFINGGASSE 4, WIEN 1210, Austria,
37. UNIVERSITE D'AIX MARSEILLE (AMU), PIC 955518483, established in BOULEVARD
CHARLES LIVON 58 LE PHARO, MARSEILLE 13284, France,
38. AZIENDA OSPEDALIERA UNIVERSITARIA MEYER IRCCS (AOU Meyer IRCCS), PIC
998778543, established in VIALE PIERACCINI 24, FIRENZE 50139, Italy,
39. AZIENDA SANITARIA UNIVERSITARIA FRIULI CENTRALE (ASU-FC), PIC
894464355, established in VIA POZZUOLO 330, UDINE 33100, Italy,
40. BAR ILAN UNIVERSITY (BIU), PIC 999886574, established in BAR ILAN UNIVERSITY
CAMPUS, RAMAT GAN 52900, Israel,
41. BUNDESMINISTERIUM FUER BILDUNG UND FORSCHUNG (BMBF), PIC 999835455,
established in Heinemannstrasse 2, BONN 53175, Germany,
42. ST. ANNA KINDERKREBSFORSCHUNG GMBH (CCRI GmbH), PIC 891384896,
established in ZIMMERMANNPLATZ 10, WIEN 1090, Austria,
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Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
HE Ref.
Associated with document MGAAres(2024)5602406
— Multi & Mono:-v1.0
02/08/2024
43. CENTOGENE GMBH (CENTOGENE), PIC 878333449, established in AM.STRANDE 7,
ROSTOCK 18055, Germany,
44. CHARITE - UNIVERSITAETSMEDIZIN BERLIN (CHARITE), PIC 999992692,
established in Chariteplatz 1, BERLIN 10117, Germany,
45. CHECKIMMUNE GMBH (CHI), PIC 889852781, established in CAMPUS VIRCHOW
KLINIKUM, CRANACH HAUS AUGUSTENBURG PLATZ 1, BERLIN 13353, Germany,
46. CENTRE HOSPITALIER REG UNIVERSITAIRE DIJON (CHU Dijon), PIC 959994451,
established in BOULEVARD MAL DE LATTRE DE TASSIGNY 2, DIJON 21000, France,
47. COPENHAGEN ECONOMICS AS (CE), PIC 938801309, established in LANGEBROGADE
1B, KOBENHAVN K 1411, Denmark,
48. REGION HOVEDSTADEN (REGIONH), PIC 999654744, established in KONGENS
VAENGE 2, HILLEROD 3400, Denmark,
49. MINISTRY OF HEALTH (CSO-MOH), PIC 999596156, established in YIRMIYAHU 39,
JERUSALEM 9101002, Israel,
50. CONSORZIO PER VALUTAZIONI BIOLOGICHE E FARMACOLOGICHE (CVBF), PIC
999717018, established in VIA NICOLO PUTIGNANI 178, BARI 70122, Italy,
51. STICHTING DUCHENNE DATA FOUNDATION (DDF), PIC 899914882, established in
WARMOESDREEF 10, BERGEN OP ZOOM 4614 HC, Netherlands,
52. ELSEVIER BV (ELS), PIC 999937014, established in RADARWEG 29, AMSTERDAM
1043NX, Netherlands,
53. ERASMUS UNIVERSITAIR MEDISCH CENTRUM ROTTERDAM (Erasmus MC), PIC
999988424, established in DR MOLEWATERPLEIN 40, ROTTERDAM 3015 GD, Netherlands,
54. FONDS DE LA RECHERCHE SCIENTIFIQUE- FNRS (F.R.S.-FNRS), PIC 999540381,
established in RUE D'EGMONT 5, BRUXELLES 1000, Belgium,
55. FRAUNHOFER GESELLSCHAFT ZUR FORDERUNG DER ANGEWANDTEN
FORSCHUNG EV (FHG), PIC 999984059, established in HANSASTRASSE 27C, MUNCHEN
80686, Germany,
56. FONDAZIONE REGIONALE PER LA RICERCA BIOMEDICA (FRRB), PIC 929009450,
established in PIAZZA CITTA DI LOMBARDIA 1, MILANO 20124, Italy,
57. ECRIN EUROPEAN CLINICAL RESEARCH INFRASTRUCTURE NETWORK
(ECRIN), PIC 948646712, established in 30 BD SAINT-JACQUES BATIMENT B, PARIS 75014,
France,
58. FONDS ZUR FÖRDERUNG DER WISSENSCHAFTLICHEN FORSCHUNG (FWF), PIC
998735960, established in GEORG-COCH-PLATZ 2, WIEN 1010, Austria,
59. INNOVATIONSFONDEN (IFD), PIC 939076692, established in OSTERGADE 26 A,
KOBENHAVN K 1100, Denmark,
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Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
HE Ref.
Associated with document MGAAres(2024)5602406
— Multi & Mono:-v1.0
02/08/2024
60. FUNDACIO PRIVADA PER A LA RECERCA I LA DOCENCIA SANT JOAN DE
DEU (FSJD-CERCA), PIC 999565601, established in SANTA ROSA 39-4, ESPLUGUES DE
LLOBREGAT 08950, Spain,
61. FUNDACAO PARA A CIENCIA E A TECNOLOGIA (FCT), PIC 999543970, established in
AVENIDA D CARLOS I 126, LISBOA 1249 074, Portugal,
62. MINISTERSTVO ZDRAVOTNICTVI CESKE REPUBLIKY (MZd), PIC 924144512,
established in PALACKEHO NAMESTI 375/4, PRAHA 12801, Czechia,
63. ASSOCIATION GENETHON (GNT), PIC 998217883, established in RUE DE L
INTERNATIONALE 1 BIS, EVRY 91002, France,
64. GEORGIAN FOUNDATION FOR GENETIC AND RARE DISEASES (GERAD), PIC
953089312, established in TARKHNISHVILI STREET 9 APT 5, TBIILISI 0179, Georgia,
65. REGION STOCKHOLM (RS), PIC 999522921, established in HANTVERKARGATAN 45,
STOCKHOLM 104 22, Sweden,
66. JOHANN WOLFGANG GOETHE-UNIVERSITAET FRANKFURT AM MAIN (GUF),
PIC 999978724, established in THEODOR W ADORNO PLATZ 1, FRANKFURT AM MAIN
60629, Germany,
67. THE HEALTH RESEARCH BOARD (HRB), PIC 999546686, established in 67 72 LOWER
MOUNT STREET, DUBLIN D02 H638, Ireland,
68. IZMIR BIYOTIP VE GENOM MERKEZI (İBG), PIC 906758620, established in
MITHATPASA CAD. NO:58/5 BALCOVA, IZMIR 35340, Türkiye,
69. RANNSOKNAMIDSTOD ISLANDS (Rannis), PIC 999547268, established in BORGARTUNI
30, REYKJAVIK 105, Iceland,
70. IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES
FONDATION (IMAGINE), PIC 955276177, established in 24 BD DU MONTPARNASSE, PARIS
15 75015, France,
71. INSTYTUT GENETYKI CZLOWIEKA POLSKIEJ AKADEMII NAUK (IGC PAN), PIC
982958425, established in STRZESZYNSKA 32, POZNAN 60-479, Poland,
72. INSTITUTO DE SALUD CARLOS III (ISCIII), PIC 999507886, established in MONFORTE
DE LEMOS 5, MADRID 28029, Spain,
73. INSTITUTO NACIONAL DE SAUDE DR. RICARDO JORGE (INSA), PIC 998308190,
established in AVENIDA PADRE CRUZ, LISBOA 1649-016, Portugal,
74. ISTITUTO ORTOPEDICO RIZZOLI (IOR), PIC 999445709, established in VIA DI
BARBIANO 1/10, BOLOGNA 40136, Italy,
75. ISTITUTO SUPERIORE DI SANITA (ISS), PIC 999978821, established in Viale Regina Elena
299, ROMA 00161, Italy,
76. MINISTERO DELLA SALUTE (IT-MOH), PIC 999531942, established in Via Giorgio Ribotta
5, ROMA 00144, Italy,
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Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
HE Ref.
Associated with document MGAAres(2024)5602406
— Multi & Mono:-v1.0
02/08/2024
77. KATHOLIEKE UNIVERSITEIT LEUVEN (KU Leuven), PIC 999991334, established in
OUDE MARKT 13, LEUVEN 3000, Belgium,
78. LATVIJAS ZINATNES PADOME (LZP), PIC 999546589, established in SMILSU IELA 8,
RIGA LV-1050, Latvia,
79. MAPI RESEARCH TRUST (MRT), PIC 925695542, established in 27 RUE DE LA
VILLETTE, LYON 69003, France,
80. MEDICAL UNIVERSITY SOFIA (MUS), PIC 999857571, established in ACAD IV
EVSTATIEV GESHOV ST 15, SOFIA 1431, Bulgaria,
81. FAKULTNI NEMOCNICE V MOTOLE (MUH), PIC 964458391, established in V UVALU
84, PRAHA 5 150 06, Czechia,
82. Ministero dell'università e della ricerca (MUR), PIC 894763406, established in Via Michele
Carcani 61, Roma 00153, Italy,
83. NARODOWE CENTRUM BADAN I ROZWOJU (NCBR), PIC 999519720, established in
UL. CHMIELNA 69, WARSZAWA 00-801, Poland,
84. ETHNIKO KAI KAPODISTRIAKO PANEPISTIMIO ATHINON (NKUA), PIC 999643007,
established in 6 CHRISTOU LADA STR, ATHINA 10561, Greece,
85. MINISTERSTVO ZDRAVOTNICTVA SLOVENSKEJ REPUBLIKY (MoH SR), PIC
999825173, established in LIMBOVA 2, BRATISLAVA 83752, Slovakia,
86. ENOSI SPANION ASTHENON ELLADOS (RDG), PIC 883276763, established in
KAPNIKAREAS 19A, ATHINA 105 56, Greece,
87. REGION SYDDANMARK (REGIONSYD), PIC 999602073, established in DAMHAVEN 12,
VEJLE 7100, Denmark,
88. OSPEDALE PEDIATRICO BAMBINO GESU (OPBG), PIC 998837810, established in
PIAZZA SANT ONOFRIO 4, ROMA 00165, Italy,
89. OSPEDALE SAN RAFFAELE SRL (OSR), PIC 953176030, established in VIA OLGETTINA
60, MILANO 20132, Italy,
90. INSTITUT JOZEF STEFAN (JSI), PIC 999971837, established in Jamova 39, LJUBLJANA
1000, Slovenia,
91. NORGES FORSKNINGSRAD (RCN), PIC 999460453, established in DRAMMENSVEIEN
288, OSLO 0283, Norway,
92. FONDS VOOR WETENSCHAPPELIJK ONDERZOEK-VLAANDEREN (FWO), PIC
997949484, established in LEUVENSEWEG 38, BRUSSEL 1000, Belgium,
93. RIGAS AUSTRUMU KLINISKA UNIVERSITATES SLIMNICA SIA (REUH), PIC
973366483, established in HIPOKRATA IELA 2, RIGA LV-1079, Latvia,
94. IDRYMA EREVNAS KAI KAINOTOMIAS (RIF), PIC 999946035, established in ANDREA
MICHALAKOPOULOU 29 A, NICOSIA 1075, Cyprus,
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Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
HE Ref.
Associated with document MGAAres(2024)5602406
— Multi & Mono:-v1.0
02/08/2024
95. ROYAL COLLEGE OF SURGEONS IN IRELAND (RCSI), PIC 999867368, established in
ST STEPHEN'S GREEN 123, DUBLIN 2, Ireland,
96. RIGAS STRADINA UNIVERSITATE (RSU), PIC 999843118, established in Dzirciema street
16, RIGA 1007, Latvia,
97. SCIENSANO (Sciensano), PIC 906160809, established in JULIETTE WYTSMANSTRAAT 14,
ELSENE 1050, Belgium,
98. SERVICE PUBLIC DE WALLONIE (SPW), PIC 999811884, established in Place de la
Wallonie 1, Namur 5100, Belgium,
99. SIGMUND FREUD PRIVATUNIVERSITAT WIEN GMBH (SFU), PIC 996709824,
established in FREUDPLATZ 1, WIEN 1020, Austria,
100. SIHTASUTUS EESTI TEADUSAGENTUUR (ETAg), PIC 998483760, established in
SOOLA 8, TARTU 51004, Estonia,
101. SLOVENSKA AKADEMIA VIED (SAS), PIC 999530390, established in STEFANIKOVA
49, BRATISLAVA 814 38, Slovakia,
102. SONIO (Sonio), PIC 886915427, established in 24 RUE DU FAUBOURG SAINT-JACQUES,
PARIS 75014, France,
103. SOTSIAALMINISTEERIUM (MOSAE), PIC 998429731, established in Suur-Ameerika 1,
TALLINN 10122, Estonia,
104. VETENSKAPSRADET - SWEDISH RESEARCH COUNCIL (SRC), PIC 999586165,
established in BOX 1035, STOCKHOLM 101 38, Sweden,
105. TEDDY - EUROPEAN NETWORK OF EXCELLENCE FOR PAEDIATRIC CLINICAL
RESEARCH (TEDDY), PIC 910591963, established in VIA LUIGI PORTA 14, PAVIA 231261,
Italy,
106. TEKKARE (TEKKARE), PIC 881967069, established in 11-19 RUE DE LA VANNE,
SOPARQ, BAT C, MONTROUGE 92120, France,
107. THALASSAEMIA INTERNATIONAL FEDERATION (TIF), PIC 940669626, established
in AKROPOLEOS 21 STROVOLOS, LEFKOSIA 2006, Cyprus,
108. TURKIYE BILIMSEL VE TEKNOLOJIK ARASTIRMA KURUMU (TUBITAK), PIC
999587135, established in Ataturk Bulvari 221, ANKARA 06100, Türkiye,
109. REGIONE TOSCANA (RT (TuscReg)), PIC 998823842, established in Palazzo Strozzi Sacrati
- Piazza del Duomo 10, FIRENZE 50122, Italy,
110. UNIVERSITAT AUTONOMA DE BARCELONA (UAB), PIC 999986484, established
in EDIF A CAMPUS DE LA UAB BELLATERRA CERDANYOLA V, CERDANYOLA DEL
VALLES 08193, Spain,
111. UNIVERSITY COLLEGE DUBLIN, NATIONAL UNIVERSITY OF IRELAND, DUBLIN
(UCD), PIC 999974359, established in BELFIELD, DUBLIN 4, Ireland,
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Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
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Associated with document MGAAres(2024)5602406
— Multi & Mono:-v1.0
02/08/2024
112. UNIVERSITA CATTOLICA DEL SACRO CUORE (UCSC), PIC 999915771, established
in LARGO GEMELLI 1, MILANO 20123, Italy,
113. ITA-SUOMEN YLIOPISTO (UEF), PIC 991207984, established in YLIOPISTONRANTA 8,
KUOPIO 70211, Finland,
114. UNIVERSITAETSKLINIKUM AACHEN (UKA), PIC 999897632, established in
Pauwelsstrasse 30, AACHEN 52074, Germany,
115. UNIVERSITAETSKLINIKUM FREIBURG (UKLFR), PIC 999881918, established in
HUGSTETTER STRASSE 49, FREIBURG 79106, Germany,
116. UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI
(UNICAMPANIA), PIC 999848356, established in VIALE ABRAMO LINCOLN 5, CASERTA
81100, Italy,
117. PANEPISTIMIO KRITIS (UoC), PIC 999588978, established in UNIVERSITY CAMPUS
GALLOS, RETHIMNO 74100, Greece,
118. UNIVERSITEIT GENT (UGENT), PIC 999986096, established in SINT
PIETERSNIEUWSTRAAT 25, GENT 9000, Belgium,
119. UNIVERZITETNI KLINICNI CENTER LJUBLJANA (UKCL), PIC 999882306,
established in ZALOSKA CESTA 002, LJUBLJANA 1000, Slovenia,
120. STICHTING WORLD DUCHENNE ORGANIZATION (WDO), PIC 930321860,
established in KONINGINNELAAN 69, VEENENDAAL 3905 GG, Netherlands,
121. UPPSALA UNIVERSITET (UU), PIC 999985029, established in VON KRAEMERS ALLE
4, UPPSALA 751 05, Sweden,
122. CONECT4CHILDREN STICHTING (c4c-S), PIC 881618063, established in NICOLAAS
BEETSSTRAAT 216, UTRECHT 3511 HG, Netherlands,
123. UNIVERSITE CADI AYYAD (CAU), PIC 998639930, established in BOULEVARD
ABDELKARIM KHATTABI, MARRAKECH 40 000, Morocco,
124. CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE CNRS (CNRS), PIC
999997930, established in RUE MICHEL ANGE 3, PARIS 75794, France,
125. CONSORCIO CENTRO DE INVESTIGACION BIOMEDICA EN RED M.P. (CIBER),
PIC 997154957, established in CALLE MONFORTE DE LEMOS 5, MADRID 28029, Spain,
126. UNITATEA EXECUTIVA PENTRU FINANTAREA INVATAMANTULUI SUPERIOR A
CERCETARII DEZVOLTARII SI INOVARII (UEFISCDI), PIC 972130024, established in STR
D I MENDELEEV 21-25, BUCURESTI 010362, Romania,
127. UNIVERSITA DEGLI STUDI DI ROMA LA SAPIENZA (UNIROMA1), PIC 999987745,
established in Piazzale Aldo Moro 5, ROMA 00185, Italy,
128. UNIVERSITEIT ANTWERPEN (UANTWERPEN), PIC 999902870, established in
PRINSSTRAAT 13, ANTWERPEN 2000, Belgium,
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Associated with document MGAAres(2024)5602406
— Multi & Mono:-v1.0
02/08/2024
129. BULGARIAN NATIONAL SCIENCE FUND (BNSF), PIC 984222335, established in BLVD
KNYAZ DONDUKOV 2 A, SOFIA 1000, Bulgaria,
130. REGION NORDJYLLAND (NORTH DENMARK REGION) (Aalborg UH), PIC
997381064, established in Niels Bohrs Vej 30, AALBORG 9220, Denmark,
131. REDKI BOLESTI BULGARIA (RDB), PIC 880694720, established in NISHAVA 121, SOFIA
1408, Bulgaria,
132. BIOBANKS AND BIOMOLECULAR RESOURCES RESEARCH INFRASTRUCTURE
CONSORTIUM (BBMRI-ERIC) (BBMRI-ERIC), PIC 946597878, established in NEUE
STIFTINGTALSTRASSE 2/B/6, GRAZ 8010, Austria,
133. AARHUS UNIVERSITETSHOSPITAL (AarhusUH), PIC 999643880, established in PALLE
JUUL-JENSENS BOULEVARD 99, AARHUS 8200, Denmark,
134. ASSOCIATION INTERNATIONALE DE STANDARDISATION BIOLOGIQUE POUR
L'EUROPE(IABS-EU) (IABS-EU), PIC 934774936, established in 24 RUE JEAN BALDASSINI,
LYON 69393, France,
135. HEALTH RESEARCH CHARITIES IRELAND COMPANY LIMITED BY
GUARANTEE (HRCI), PIC 880683274, established in 12 CAMDEN ROW, DUBLIN D08 R9CN,
Ireland,
136. LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN (LMU), PIC 999978433,
established in GESCHWISTER SCHOLL PLATZ 1, MUNCHEN 80539, Germany,
137. MYSCIENCEWORK (MSW), PIC 898132119, established in 101 RUE DE SEVRES LOT
1674, PARIS 75006, France,
138. FONDS NATIONAL DE LA RECHERCHE (FNR), PIC 998597153, established in 2
AVENUE DE L'UNIVERSITE, ESCH-SUR-ALZETTE 4365, Luxembourg,
139. NEMZETI KUTATASI FEJLESZTESI ES INNOVACIOS HIVATAL (NKFIH), PIC
999578696, established in KETHLY ANNA TER 1, BUDAPEST 1077, Hungary,
140. BUNDESINSTITUT FUR IMPFSTOFFE UND BIOMEDIZINISCHE ARZNEIMITTEL
(PEI), PIC 998217301, established in PAUL-EHRLICH-STRASSE 51-59, LANGEN 63225,
Germany,
141. PARIS-LODRON-UNIVERSITAT SALZBURG (PLUS), PIC 999868047, established in
KAPITELGASSE 4-6, SALZBURG 5020, Austria,
142. SORBONNE UNIVERSITE (SU), PIC 909875521, established in 21 RUE DE L'ECOLE DE
MEDECINE, PARIS 75006, France,
143. UNIVERSITA DEGLI STUDI DI SIENA (UNISI), PIC 999898020, established in VIA
BANCHI DI SOTTO 55, SIENA 53100, Italy,
144. VERKET FOR INNOVATIONSSYSTEM (Vinnova), PIC 999618757, established in
MASTER SAMUELSG 56, STOCKHOLM 10158, Sweden,
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145. FUNDACIO CENTRE DE REGULACIO GENOMICA (CRG-CERCA), PIC 999544455,
established in CARRER DOCTOR AIGUADER 88, BARCELONA 08003, Spain,
146. REGION SKANE (GMS-RS), PIC 998165794, established in REGION SKANE,
KRISTIANSTAD 291 89, Sweden,
147. VIB VZW (VIB), PIC 999651931, established in SUZANNE TASSIERSTRAAT 1,
ZWIJNAARDE - GENT 9052, Belgium,
148. INSTITUT DE PATHOLOGIE ET DE GENETIQUE ASBL (IPG), PIC 878266034,
established in Av. Georges Lemaitre 25, GOSSELIES 6041, Belgium,
149. UNIVERSITY OF OTAGO (UO), PIC 998331567, established in SAINT DAVID STREET,
DUNEDIN 9054, New Zealand,
150. HOSPITAL SANT JOAN DE DEU (HSJD), PIC 997929890, established in PASEO SANT
JOAN DE DEU 2, ESPLUGUES DE LLOBREGAT 08950, Spain,
Unless otherwise specified, references to ‘beneficiary’ or ‘beneficiaries’ include the coordinator and
affiliated entities (if any).
If only one beneficiary signs the grant agreement (‘mono-beneficiary grant’), all provisions referring
to the ‘coordinator’ or the ‘beneficiaries’ will be considered — mutatis mutandis — as referring to
the beneficiary.
The parties referred to above have agreed to enter into the Agreement.
By signing the Agreement and the accession forms, the beneficiaries accept the grant and agree to
implement the action under their own responsibility and in accordance with the Agreement, with all
the obligations and terms and conditions it sets out.
The Agreement is composed of:
Preamble
Terms and Conditions (including Data Sheet)
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Annex 1 Description of the action1
Annex 2 Estimated budget for the action
Annex 2a Additional information on unit costs and contributions (if applicable)
Annex 3 Accession forms (if applicable)2
Annex 3a Declaration on joint and several liability of affiliated entities (if applicable)3
Annex 4 Model for the financial statements
Annex 5 Specific rules (if applicable)
1 Template published on Portal Reference Documents.
2 Template published on Portal Reference Documents.
3 Template published on Portal Reference Documents.
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TERMS AND CONDITIONS
TABLE OF CONTENTS
GRANT AGREEMENT.................................................................................................................................................... 1
PREAMBLE........................................................................................................................................................................1
TERMS AND CONDITIONS.........................................................................................................................................12
DATASHEET.................................................................................................................................................................... 17
CHAPTER 1 GENERAL..............................................................................................................................................27
ARTICLE 1 — SUBJECT OF THE AGREEMENT ..................................................................................... 27
ARTICLE 2 — DEFINITIONS........................................................................................................................27
CHAPTER 2 ACTION................................................................................................................................................. 28
ARTICLE 3 — ACTION................................................................................................................................. 28
ARTICLE 4 — DURATION AND STARTING DATE...................................................................................28
CHAPTER 3 GRANT...................................................................................................................................................28
ARTICLE 5 — GRANT...................................................................................................................................28
5.1 Form of grant......................................................................................................................................28
5.2 Maximum grant amount..................................................................................................................... 29
5.3 Funding rate........................................................................................................................................29
5.4 Estimated budget, budget categories and forms of funding.............................................................. 29
5.5 Budget flexibility................................................................................................................................29
ARTICLE 6 — ELIGIBLE AND INELIGIBLE COSTS AND CONTRIBUTIONS......................................30
6.1 General eligibility conditions............................................................................................................. 30
6.2 Specific eligibility conditions for each budget category................................................................... 31
6.3 Ineligible costs and contributions...................................................................................................... 36
6.4 Consequences of non-compliance...................................................................................................... 37
CHAPTER 4 GRANT IMPLEMENTATION............................................................................................................ 37
SECTION 1 CONSORTIUM: BENEFICIARIES, AFFILIATED ENTITIES AND OTHER
PARTICIPANTS........................................................................................................................................ 37
ARTICLE 7 — BENEFICIARIES................................................................................................................... 37
ARTICLE 8 — AFFILIATED ENTITIES....................................................................................................... 39
ARTICLE 9 — OTHER PARTICIPANTS INVOLVED IN THE ACTION................................................... 40
9.1 Associated partners.............................................................................................................................40
9.2 Third parties giving in-kind contributions to the action.................................................................... 41
9.3 Subcontractors.....................................................................................................................................42
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9.4 Recipients of financial support to third parties..................................................................................42
ARTICLE 10 — PARTICIPANTS WITH SPECIAL STATUS....................................................................... 42
10.1 Non-EU participants......................................................................................................................... 42
10.2 Participants which are international organisations...........................................................................43
10.3 Pillar-assessed participants............................................................................................................... 43
SECTION 2 RULES FOR CARRYING OUT THE ACTION...........................................................................45
ARTICLE 11 — PROPER IMPLEMENTATION OF THE ACTION............................................................ 45
11.1 Obligation to properly implement the action................................................................................... 46
11.2 Consequences of non-compliance.................................................................................................... 46
ARTICLE 12 — CONFLICT OF INTERESTS.............................................................................................. 46
12.1 Conflict of interests.......................................................................................................................... 46
12.2 Consequences of non-compliance.................................................................................................... 46
ARTICLE 13 — CONFIDENTIALITY AND SECURITY............................................................................ 46
13.1 Sensitive information........................................................................................................................46
13.2 Classified information...................................................................................................................... 47
13.3 Consequences of non-compliance.................................................................................................... 47
ARTICLE 14 — ETHICS AND VALUES...................................................................................................... 47
14.1 Ethics.................................................................................................................................................47
14.2 Values................................................................................................................................................ 48
14.3 Consequences of non-compliance.................................................................................................... 48
ARTICLE 15 — DATA PROTECTION.......................................................................................................... 48
15.1 Data processing by the granting authority....................................................................................... 48
15.2 Data processing by the beneficiaries............................................................................................... 48
15.3 Consequences of non-compliance.................................................................................................... 49
ARTICLE 16 — INTELLECTUAL PROPERTY RIGHTS (IPR) — BACKGROUND AND RESULTS —
ACCESS RIGHTS AND RIGHTS OF USE................................................................................ 49
16.1 Background and access rights to background..................................................................................49
16.2 Ownership of results.........................................................................................................................49
16.3 Rights of use of the granting authority on materials, documents and information received for
policy, information, communication, dissemination and publicity purposes...................................49
16.4 Specific rules on IPR, results and background................................................................................ 50
16.5 Consequences of non-compliance.................................................................................................... 51
ARTICLE 17 — COMMUNICATION, DISSEMINATION AND VISIBILITY............................................ 51
17.1 Communication — Dissemination — Promoting the action........................................................... 51
17.2 Visibility — European flag and funding statement......................................................................... 51
17.3 Quality of information — Disclaimer..............................................................................................52
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17.4 Specific communication, dissemination and visibility rules............................................................52
17.5 Consequences of non-compliance.................................................................................................... 52
ARTICLE 18 — SPECIFIC RULES FOR CARRYING OUT THE ACTION............................................... 52
18.1 Specific rules for carrying out the action........................................................................................ 52
18.2 Consequences of non-compliance.................................................................................................... 52
SECTION 3 GRANT ADMINISTRATION......................................................................................................... 52
ARTICLE 19 — GENERAL INFORMATION OBLIGATIONS.................................................................... 52
19.1 Information requests......................................................................................................................... 52
19.2 Participant Register data updates..................................................................................................... 53
19.3 Information about events and circumstances which impact the action............................................53
19.4 Consequences of non-compliance.................................................................................................... 53
ARTICLE 20 — RECORD-KEEPING............................................................................................................ 53
20.1 Keeping records and supporting documents.................................................................................... 53
20.2 Consequences of non-compliance.................................................................................................... 54
ARTICLE 21 — REPORTING........................................................................................................................ 55
21.1 Continuous reporting........................................................................................................................ 55
21.2 Periodic reporting: Technical reports and financial statements....................................................... 55
21.3 Currency for financial statements and conversion into euros..........................................................56
21.4 Reporting language...........................................................................................................................56
21.5 Consequences of non-compliance.................................................................................................... 56
ARTICLE 22 — PAYMENTS AND RECOVERIES — CALCULATION OF AMOUNTS DUE................. 56
22.1 Payments and payment arrangements.............................................................................................. 56
22.2 Recoveries.........................................................................................................................................57
22.3 Amounts due.....................................................................................................................................57
22.4 Enforced recovery.............................................................................................................................63
22.5 Consequences of non-compliance.................................................................................................... 64
ARTICLE 23 — GUARANTEES....................................................................................................................64
ARTICLE 24 — CERTIFICATES................................................................................................................... 64
24.1 Operational verification report (OVR).............................................................................................64
24.2 Certificate on the financial statements (CFS).................................................................................. 64
24.3 Certificate on the compliance of usual cost accounting practices (CoMUC).................................. 65
24.4 Systems and process audit (SPA).....................................................................................................65
24.5 Consequences of non-compliance.................................................................................................... 66
ARTICLE 25 — CHECKS, REVIEWS, AUDITS AND INVESTIGATIONS — EXTENSION OF
FINDINGS..................................................................................................................................... 66
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25.1 Granting authority checks, reviews and audits................................................................................ 66
25.2 European Commission checks, reviews and audits in grants of other granting authorities..............67
25.3 Access to records for assessing simplified forms of funding.......................................................... 68
25.4 OLAF, EPPO and ECA audits and investigations........................................................................... 68
25.5 Consequences of checks, reviews, audits and investigations — Extension of results of reviews,
audits or investigations.................................................................................................................... 68
25.6 Consequences of non-compliance.................................................................................................... 69
ARTICLE 26 — IMPACT EVALUATIONS................................................................................................... 70
26.1 Impact evaluation............................................................................................................................. 70
26.2 Consequences of non-compliance.................................................................................................... 70
CHAPTER 5 CONSEQUENCES OF NON-COMPLIANCE.................................................................................. 70
SECTION 1 REJECTIONS AND GRANT REDUCTION.................................................................................70
ARTICLE 27 — REJECTION OF COSTS AND CONTRIBUTIONS...........................................................70
27.1 Conditions......................................................................................................................................... 70
27.2 Procedure.......................................................................................................................................... 70
27.3 Effects............................................................................................................................................... 71
ARTICLE 28 — GRANT REDUCTION........................................................................................................ 71
28.1 Conditions......................................................................................................................................... 71
28.2 Procedure.......................................................................................................................................... 71
28.3 Effects............................................................................................................................................... 71
SECTION 2 SUSPENSION AND TERMINATION............................................................................................71
ARTICLE 29 — PAYMENT DEADLINE SUSPENSION............................................................................. 72
29.1 Conditions......................................................................................................................................... 72
29.2 Procedure.......................................................................................................................................... 72
ARTICLE 30 — PAYMENT SUSPENSION...................................................................................................72
30.1 Conditions......................................................................................................................................... 72
30.2 Procedure.......................................................................................................................................... 73
ARTICLE 31 — GRANT AGREEMENT SUSPENSION..............................................................................73
31.1 Consortium-requested GA suspension............................................................................................. 73
31.2 EU-initiated GA suspension.............................................................................................................74
ARTICLE 32 — GRANT AGREEMENT OR BENEFICIARY TERMINATION......................................... 75
32.1 Consortium-requested GA termination............................................................................................ 75
32.2 Consortium-requested beneficiary termination................................................................................ 76
32.3 EU-initiated GA or beneficiary termination.................................................................................... 77
SECTION 3 OTHER CONSEQUENCES: DAMAGES AND ADMINISTRATIVE SANCTIONS............... 80
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ARTICLE 33 — DAMAGES...........................................................................................................................81
33.1 Liability of the granting authority....................................................................................................81
33.2 Liability of the beneficiaries............................................................................................................ 81
ARTICLE 34 — ADMINISTRATIVE SANCTIONS AND OTHER MEASURES....................................... 81
SECTION 4 FORCE MAJEURE.......................................................................................................................... 81
ARTICLE 35 — FORCE MAJEURE.............................................................................................................. 81
CHAPTER 6 FINAL PROVISIONS...........................................................................................................................82
ARTICLE 36 — COMMUNICATION BETWEEN THE PARTIES...............................................................82
36.1 Forms and means of communication — Electronic management................................................... 82
36.2 Date of communication.................................................................................................................... 82
36.3 Addresses for communication.......................................................................................................... 82
ARTICLE 37 — INTERPRETATION OF THE AGREEMENT.....................................................................83
ARTICLE 38 — CALCULATION OF PERIODS AND DEADLINES..........................................................83
ARTICLE 39 — AMENDMENTS.................................................................................................................. 83
39.1 Conditions......................................................................................................................................... 83
39.2 Procedure.......................................................................................................................................... 83
ARTICLE 40 — ACCESSION AND ADDITION OF NEW BENEFICIARIES........................................... 84
40.1 Accession of the beneficiaries mentioned in the Preamble............................................................. 84
40.2 Addition of new beneficiaries.......................................................................................................... 84
ARTICLE 41 — TRANSFER OF THE AGREEMENT................................................................................. 84
ARTICLE 42 — ASSIGNMENTS OF CLAIMS FOR PAYMENT AGAINST THE GRANTING
AUTHORITY.................................................................................................................................85
ARTICLE 43 — APPLICABLE LAW AND SETTLEMENT OF DISPUTES.............................................. 85
43.1 Applicable law..................................................................................................................................85
43.2 Dispute settlement............................................................................................................................ 85
ARTICLE 44 — ENTRY INTO FORCE.........................................................................................................85
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DATA SHEET
1. General data
Project summary:
Project summary
The European Rare Diseases Research Alliance (ERDERA) aims to improve the health and well-being of the 30 million people living
with a rare disease in Europe, by making Europe a world leader in Rare Disease (RD) research and innovation, to support concrete health
benefits to rare disease patients, through better prevention, diagnosis and treatment. This Partnership will deliver a RD ecosystem that
builds on the successes of previous programmes by supporting robust patient need-led research, developing new diagnostic methods and
pathways, spearheading the digital transformational change connecting the dots between care, patient data and research, while ensuring
strong alignment of strategies in RD research across countries and regions. Structuring goal-oriented public-private collaborations
targeted at interventions all along the R&D value chain will ensure that the journey from knowledge to patient impact is expedited,
thereby optimising EU innovation potential in RD. To support its ambition and missions ERDERA has been designed as a comprehensive
and integrated ecosystem of which structure can be compared to an institute encompassing three main parts: (i) funding, (ii) internal (in
house) Clinical Research Network that implements research activities targeting clinical trial readiness of RDs and accelerating diagnosis
and translation of research discovery into improved patient care, and (iii) related supporting services (Data, Expertise, Education and
Training) as well as an acceleration hub that serve external and internal RD community, all supported by all-embracing coordination and
strategy and foundational (inter)national alignment.
Keywords:
– Rare diseases
– translational research, diagnostics, therapy development, ATMPs, data, education, patients empowerment, public-
private collaboration, federated analysis, regulatory compliance, clinical trials
Project number: 101156595
Project name: EUROPEAN RARE DISEASES RESEARCH ALLIANCE
Project acronym: ERDERA
Call: HORIZON-HLTH-2023-DISEASE-07
Topic: HORIZON-HLTH-2023-DISEASE-07-01
Type of action: HORIZON Programme Cofund Actions
Granting authority: European Health and Digital Executive Agency
Grant managed through EU Funding & Tenders Portal: Yes (eGrants)
Project starting date: fixed date: 1 September 2024
Project end date: 31 August 2031
Project duration: 84 months
Consortium agreement: Yes
2. Participants
List of participants:
Total
Max grant
N° Role Short name Legal name Ctry PIC eligible costs
amount
(BEN and AE)
1 COO INSERM INSTITUT NATIONAL DE LA SANTE ET DE LA FR 999997833 9 032 651.75 4 516 325.88
RECHERCHE MEDICALE
1.1 AE CAD Collecteur Analyseur de Données FR 880793078 716 000.00 358 000.00
2 BEN TEAMIT TEAMIT RESEARCH SL ES 896104237 1 493 375.00 746 687.50
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Total
Max grant
N° Role Short name Legal name Ctry PIC eligible costs
amount
(BEN and AE)
3 BEN DLR DEUTSCHES ZENTRUM FUR LUFT - UND DE 999981731 554 051.25 277 025.63
RAUMFAHRT EV
4 BEN ANR AGENCE NATIONALE DE LA RECHERCHE FR 998711613 13 041 861.75 3 907 279.49
5 BEN FTELE FONDAZIONE TELETHON ETS IT 999448716 3 628 310.00 1 401 160.30
6 BEN LMT Lietuvos mokslo taryba LT 997808446 465 802.25 152 891.05
7 BEN ZonMw ZORGONDERZOEK NEDERLAND ZON NL 999544164 5 940 632.50 1 990 795.26
8 BEN UT EBERHARD KARLS UNIVERSITAET TUEBINGEN DE 999991916 2 942 328.75 1 471 164.38
9 BEN UTARTU TARTU ULIKOOL EE 999895013 450 627.50 225 313.75
10 BEN CNAG CONSORCIO PARA LA EXPLOTACION DEL CENTRO ES 882802433 1 962 785.71 981 392.86
NACIONAL DE ANALISIS GENOMICO
11 BEN SRUMC STICHTING RADBOUD UNIVERSITAIR MEDISCH NL 892057785 3 163 050.00 1 581 525.00
CENTRUM
12 BEN TUM TECHNISCHE UNIVERSITAET MUENCHEN DE 999977463 683 125.00 341 562.50
13 BEN UKHD UNIVERSITATSKLINIKUM HEIDELBERG DE 999841081 3 181 611.25 1 590 805.63
14 BEN C-PATH CRITICAL PATH INSTITUTE STICHTING NL 887895418 924 601.25 462 300.63
15 BEN VHIR FUNDACIO HOSPITAL UNIVERSITARI VALL ES 999541642 1 543 050.00 771 525.00
D'HEBRON - INSTITUT DE RECERCA
16 BEN LUMC ACADEMISCH ZIEKENHUIS LEIDEN NL 999990849 1 297 155.00 648 577.50
17 BEN UTWENTE UNIVERSITEIT TWENTE NL 999900833 377 120.00 188 560.00
18 BEN UPM UNIVERSIDAD POLITECNICA DE MADRID ES 999974844 1 076 878.75 538 439.38
19 BEN UMCG ACADEMISCH ZIEKENHUIS GRONINGEN NL 999914801 1 593 566.25 796 783.13
20 BEN AUMC STICHTING AMSTERDAM UMC NL 919322739 668 798.75 334 399.38
21 BEN UM UNIVERSITEIT MAASTRICHT NL 999975911 367 325.00 183 662.50
22 BEN EATRIS EATRIS ERIC NL 941506445 1 016 710.00 508 355.00
23 BEN FGB FONDAZIONE PER LA RICERCA FARMACOLOGICA IT 962478330 798 285.00 399 142.50
GIANNI BENZI ONLUS
24 BEN APHP ASSISTANCE PUBLIQUE HOPITAUX DE PARIS FR 999645432 1 616 832.50 808 416.25
25 BEN UHASSELT UNIVERSITEIT HASSELT BE 999874934 294 187.50 147 093.75
26 BEN EURORDIS EURORDIS - RARE DISEASES EUROPE FR 965288323 1 622 066.25 811 033.13
27 BEN VULSK VIESOJI ISTAIGA VILNIAUS UNIVERSITETO LT 991636530 732 225.00 366 112.50
LIGONINE SANTAROS KLINIKOS
28 BEN UC UNIVERSIDADE DE COIMBRA PT 997826391 758 030.00 379 015.00
29 BEN FFRD FONDATION MALADIES RARES FR 954438485 1 966 776.25 983 388.13
30 BEN AFM ASS FRANCAISE CONTRE LES MYOPATHIES FR 959828387 364 500.00 182 250.00
31 BEN CCUH BERNU KLINISKA UNIVERSITATES SLIMNICA LV 904374748 235 605.00 117 802.50
VALSTS SIA
32 BEN AICIB AICIB - AGENCIA DE INVESTIGACAO CLINICA E PT 892687606 160 420.00 80 210.00
INOVACAO BIOMEDICA
33 BEN IMGGE INSTITUT ZA MOLEKULARNU GENETIKU I RS 986427921 56 447.50 28 223.75
GENETICKO INZENJERSTVO
34 BEN RDI RARE DISEASES INTERNATIONAL FR 881348694 222 375.00 111 187.50
35 BEN ACU ACIBADEM MEHMET ALI AYDINLAR UNIVERSITY TR 959704421 17 946.25 8 973.13
36 BEN AIT AIT AUSTRIAN INSTITUTE OF TECHNOLOGY GMBH AT 999584128 282 503.75 141 251.88
37 BEN AMU UNIVERSITE D'AIX MARSEILLE FR 955518483 221 450.00 110 725.00
38 BEN AOU Meyer AZIENDA OSPEDALIERA UNIVERSITARIA MEYER IT 998778543 76 875.00 38 437.50
IRCCS IRCCS
39 BEN ASU-FC AZIENDA SANITARIA UNIVERSITARIA FRIULI IT 894464355 330 225.00 165 112.50
CENTRALE
40 BEN BIU BAR ILAN UNIVERSITY IL 999886574 99 617.50 49 808.75
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Total
Max grant
N° Role Short name Legal name Ctry PIC eligible costs
amount
(BEN and AE)
41 BEN BMBF BUNDESMINISTERIUM FUER BILDUNG UND DE 999835455 9 008 750.00 2 683 005.99
FORSCHUNG
42 BEN CCRI GmbH ST. ANNA KINDERKREBSFORSCHUNG GMBH AT 891384896 307 350.00 153 675.00
43 BEN CENTOGENE CENTOGENE GMBH DE 878333449 150 000.00 75 000.00
44 BEN CHARITE CHARITE - UNIVERSITAETSMEDIZIN BERLIN DE 999992692 656 251.25 328 125.63
45 BEN CHI CHECKIMMUNE GMBH DE 889852781 262 998.75 131 499.38
46 BEN CHU Dijon CENTRE HOSPITALIER REG UNIVERSITAIRE DIJON FR 959994451 223 125.00 111 562.50
47 BEN CE COPENHAGEN ECONOMICS AS DK 938801309 506 967.50 253 483.75
48 BEN REGIONH REGION HOVEDSTADEN DK 999654744 150 000.00 75 000.00
49 BEN CSO-MOH MINISTRY OF HEALTH IL 999596156 1 145 100.00 434 008.01
50 BEN CVBF CONSORZIO PER VALUTAZIONI BIOLOGICHE E IT 999717018 277 275.00 138 637.50
FARMACOLOGICHE
51 BEN DDF STICHTING DUCHENNE DATA FOUNDATION NL 899914882 284 825.00 142 412.50
52 BEN ELS ELSEVIER BV NL 999937014 421 200.00 210 600.00
53 BEN Erasmus MC ERASMUS UNIVERSITAIR MEDISCH CENTRUM NL 999988424 817 978.75 408 989.38
ROTTERDAM
54 BEN F.R.S.-FNRS FONDS DE LA RECHERCHE SCIENTIFIQUE- FNRS BE 999540381 934 575.00 283 821.89
55 BEN FHG FRAUNHOFER GESELLSCHAFT ZUR FORDERUNG DE 999984059 765 065.63 382 532.82
DER ANGEWANDTEN FORSCHUNG EV
56 BEN FRRB FONDAZIONE REGIONALE PER LA RICERCA IT 929009450 4 532 575.00 1 282 839.44
BIOMEDICA
57 BEN ECRIN ECRIN EUROPEAN CLINICAL RESEARCH FR 948646712 57 850.00 28 925.00
INFRASTRUCTURE NETWORK
58 BEN FWF FONDS ZUR FÖRDERUNG DER AT 998735960 2 747 575.00 794 930.67
WISSENSCHAFTLICHEN FORSCHUNG
59 BEN IFD INNOVATIONSFONDEN DK 939076692 3 031 475.00 864 008.80
60 BEN FSJD-CERCA FUNDACIO PRIVADA PER A LA RECERCA I LA ES 999565601 201 382.50 100 691.25
DOCENCIA SANT JOAN DE DEU
61 BEN FCT FUNDACAO PARA A CIENCIA E A TECNOLOGIA PT 999543970 1 073 950.00 316 043.45
62 BEN MZd MINISTERSTVO ZDRAVOTNICTVI CESKE CZ 924144512 1 505 000.00 439 620.90
REPUBLIKY
62.1 AE AZV AGENTURA PRO ZDRAVOTNICKY VYZKUM CESKE CZ 878890229 16 422.50 8 211.25
REPUBLIKY AZV CR
63 BEN GNT ASSOCIATION GENETHON FR 998217883 897 927.50 448 963.75
64 BEN GERAD GEORGIAN FOUNDATION FOR GENETIC AND RARE GE 953089312 40 718.75 20 359.38
DISEASES
65 BEN RS REGION STOCKHOLM SE 999522921 37 875.00 18 937.50
66 BEN GUF JOHANN WOLFGANG GOETHE-UNIVERSITAET DE 999978724 82 976.25 41 488.13
FRANKFURT AM MAIN
67 BEN HRB THE HEALTH RESEARCH BOARD IE 999546686 1 699 415.00 597 314.15
68 BEN İBG IZMIR BIYOTIP VE GENOM MERKEZI TR 906758620 444 621.25 222 310.63
69 BEN Rannis RANNSOKNAMIDSTOD ISLANDS IS 999547268 463 146.00 150 500.42
70 BEN IMAGINE IMAGINE INSTITUT DES MALADIES GENETIQUES FR 955276177 472 423.50 236 211.75
NECKER ENFANTS MALADES FONDATION
71 BEN IGC PAN INSTYTUT GENETYKI CZLOWIEKA POLSKIEJ PL 982958425 52 500.00 26 250.00
AKADEMII NAUK
72 BEN ISCIII INSTITUTO DE SALUD CARLOS III ES 999507886 5 425 418.75 1 899 967.27
73 BEN INSA INSTITUTO NACIONAL DE SAUDE DR. RICARDO PT 998308190 88 560.00 44 280.00
JORGE
74 BEN IOR ISTITUTO ORTOPEDICO RIZZOLI IT 999445709 32 500.00 16 250.00
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— Multi & Mono:-v1.0
02/08/2024
Total
Max grant
N° Role Short name Legal name Ctry PIC eligible costs
amount
(BEN and AE)
75 BEN ISS ISTITUTO SUPERIORE DI SANITA IT 999978821 148 062.50 74 031.25
76 BEN IT-MOH MINISTERO DELLA SALUTE IT 999531942 3 033 325.00 865 673.80
77 BEN KU Leuven KATHOLIEKE UNIVERSITEIT LEUVEN BE 999991334 535 041.25 267 520.63
78 BEN LZP LATVIJAS ZINATNES PADOME LV 999546589 322 075.00 103 435.63
79 BEN MRT MAPI RESEARCH TRUST FR 925695542 276 700.00 138 350.00
80 BEN MUS MEDICAL UNIVERSITY SOFIA BG 999857571 52 500.00 26 250.00
81 BEN MUH FAKULTNI NEMOCNICE V MOTOLE CZ 964458391 313 600.00 156 800.00
82 BEN MUR Ministero dell'università e della ricerca IT 894763406 3 028 325.00 861 173.80
83 BEN NCBR NARODOWE CENTRUM BADAN I ROZWOJU PL 999519720 3 625 825.00 1 026 060.06
84 BEN NKUA ETHNIKO KAI KAPODISTRIAKO PANEPISTIMIO EL 999643007 52 500.00 26 250.00
ATHINON
85 BEN MoH SR MINISTERSTVO ZDRAVOTNICTVA SLOVENSKEJ SK 999825173 112 350.00 56 175.00
REPUBLIKY
86 BEN RDG ENOSI SPANION ASTHENON ELLADOS EL 883276763 79 850.00 39 925.00
87 BEN REGIONSYD REGION SYDDANMARK DK 999602073 150 000.00 75 000.00
88 BEN OPBG OSPEDALE PEDIATRICO BAMBINO GESU IT 998837810 174 375.00 87 187.50
89 BEN OSR OSPEDALE SAN RAFFAELE SRL IT 953176030 628 577.50 314 288.75
90 BEN JSI INSTITUT JOZEF STEFAN SI 999971837 77 850.00 38 925.00
91 BEN RCN NORGES FORSKNINGSRAD NO 999460453 1 581 182.00 464 271.41
92 BEN FWO FONDS VOOR WETENSCHAPPELIJK ONDERZOEK- BE 997949484 2 139 575.00 620 594.41
VLAANDEREN
93 BEN REUH RIGAS AUSTRUMU KLINISKA UNIVERSITATES LV 973366483 189 825.00 94 912.50
SLIMNICA SIA
94 BEN RIF IDRYMA EREVNAS KAI KAINOTOMIAS CY 999946035 3 038 457.50 870 292.51
95 BEN RCSI ROYAL COLLEGE OF SURGEONS IN IRELAND IE 999867368 76 875.00 38 437.50
96 BEN RSU RIGAS STRADINA UNIVERSITATE LV 999843118 30 860.00 15 430.00
97 BEN Sciensano SCIENSANO BE 906160809 406 875.00 203 437.50
98 BEN SPW SERVICE PUBLIC DE WALLONIE BE 999811884 3 039 575.00 871 298.80
99 BEN SFU SIGMUND FREUD PRIVATUNIVERSITAT WIEN GMBH AT 996709824 276 387.50 138 193.75
100 BEN ETAg SIHTASUTUS EESTI TEADUSAGENTUUR EE 998483760 170 825.00 60 526.56
101 BEN SAS SLOVENSKA AKADEMIA VIED SK 999530390 140 825.00 52 169.75
102 BEN Sonio SONIO FR 886915427 226 075.00 113 037.50
103 BEN MOSAE SOTSIAALMINISTEERIUM EE 998429731 171 325.00 60 976.56
104 BEN SRC VETENSKAPSRADET - SWEDISH RESEARCH SE 999586165 1 491 983.00 437 258.38
COUNCIL
105 BEN TEDDY TEDDY - EUROPEAN NETWORK OF EXCELLENCE IT 910591963 71 800.00 35 900.00
FOR PAEDIATRIC CLINICAL RESEARCH
106 BEN TEKKARE TEKKARE FR 881967069 540 000.00 270 000.00
107 BEN TIF THALASSAEMIA INTERNATIONAL FEDERATION CY 940669626 74 850.00 37 425.00
108 BEN TUBITAK TURKIYE BILIMSEL VE TEKNOLOJIK ARASTIRMA TR 999587135 1 545 275.00 458 588.15
KURUMU
109 BEN RT (TuscReg) REGIONE TOSCANA IT 998823842 932 217.50 281 700.20
110 BEN UAB UNIVERSITAT AUTONOMA DE BARCELONA ES 999986484 189 805.00 94 902.50
111 BEN UCD UNIVERSITY COLLEGE DUBLIN, NATIONAL IE 999974359 58 130.00 29 065.00
UNIVERSITY OF IRELAND, DUBLIN
112 BEN UCSC UNIVERSITA CATTOLICA DEL SACRO CUORE IT 999915771 162 463.75 81 231.88
113 BEN UEF ITA-SUOMEN YLIOPISTO FI 991207984 287 760.00 143 880.00
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Total
Max grant
N° Role Short name Legal name Ctry PIC eligible costs
amount
(BEN and AE)
114 BEN UKA UNIVERSITAETSKLINIKUM AACHEN DE 999897632 128 062.50 64 031.25
115 BEN UKLFR UNIVERSITAETSKLINIKUM FREIBURG DE 999881918 400 923.75 200 461.88
116 BEN UNICAMPANIA UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI IT 999848356 76 875.00 38 437.50
VANVITELLI
117 BEN UoC PANEPISTIMIO KRITIS EL 999588978 52 500.00 26 250.00
118 BEN UGENT UNIVERSITEIT GENT BE 999986096 198 750.00 99 375.00
119 BEN UKCL UNIVERZITETNI KLINICNI CENTER LJUBLJANA SI 999882306 76 875.00 38 437.50
120 BEN WDO STICHTING WORLD DUCHENNE ORGANIZATION NL 930321860 193 078.75 96 539.38
121 BEN UU UPPSALA UNIVERSITET SE 999985029 493 887.50 246 943.75
122 BEN c4c-S CONECT4CHILDREN STICHTING NL 881618063 106 621.25 53 310.63
123 BEN CAU UNIVERSITE CADI AYYAD MA 998639930 68 993.75 34 496.88
124 BEN CNRS CENTRE NATIONAL DE LA RECHERCHE FR 999997930 212 352.50 106 176.25
SCIENTIFIQUE CNRS
125 BEN CIBER CONSORCIO CENTRO DE INVESTIGACION ES 997154957 325 196.25 162 598.13
BIOMEDICA EN RED M.P.
126 BEN UEFISCDI UNITATEA EXECUTIVA PENTRU FINANTAREA RO 972130024 3 031 775.00 864 278.80
INVATAMANTULUI SUPERIOR A CERCETARII
DEZVOLTARII SI INOVARII
127 BEN UNIROMA1 UNIVERSITA DEGLI STUDI DI ROMA LA SAPIENZA IT 999987745 85 178.75 42 589.38
128 BEN UANTWERPEN UNIVERSITEIT ANTWERPEN BE 999902870 51 250.00 25 625.00
129 BEN BNSF BULGARIAN NATIONAL SCIENCE FUND BG 984222335 253 325.00 88 168.60
130 BEN Aalborg UH REGION NORDJYLLAND (NORTH DENMARK DK 997381064 52 500.00 26 250.00
REGION)
131 BEN RDB REDKI BOLESTI BULGARIA BG 880694720 32 325.00 16 162.50
132 BEN BBMRI-ERIC BIOBANKS AND BIOMOLECULAR RESOURCES AT 946597878 111 878.75 55 939.38
RESEARCH INFRASTRUCTURE CONSORTIUM
(BBMRI-ERIC)
133 BEN AarhusUH AARHUS UNIVERSITETSHOSPITAL DK 999643880 76 875.00 38 437.50
134 BEN IABS-EU ASSOCIATION INTERNATIONALE DE FR 934774936 98 812.50 49 406.25
STANDARDISATION BIOLOGIQUE POUR
L'EUROPE(IABS-EU)
135 BEN HRCI HEALTH RESEARCH CHARITIES IRELAND COMPANY IE 880683274 47 625.00 23 812.50
LIMITED BY GUARANTEE
136 BEN LMU LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN DE 999978433 0.00 0.00
136.1 AE KUM KLINIKUM DER UNIVERSITAT MUNCHEN DE 995625946 631 666.25 315 833.13
137 BEN MSW MYSCIENCEWORK FR 898132119 315 000.00 157 500.00
138 BEN FNR FONDS NATIONAL DE LA RECHERCHE LU 998597153 1 029 315.00 313 158.33
139 BEN NKFIH NEMZETI KUTATASI FEJLESZTESI ES INNOVACIOS HU 999578696 922 075.00 272 571.89
HIVATAL
140 BEN PEI BUNDESINSTITUT FUR IMPFSTOFFE UND DE 998217301 257 069.38 128 534.69
BIOMEDIZINISCHE ARZNEIMITTEL
141 BEN PLUS PARIS-LODRON-UNIVERSITAT SALZBURG AT 999868047 317 472.50 158 736.25
142 BEN SU SORBONNE UNIVERSITE FR 909875521 24 062.50 12 031.25
143 BEN UNISI UNIVERSITA DEGLI STUDI DI SIENA IT 999898020 76 875.00 38 437.50
144 BEN Vinnova VERKET FOR INNOVATIONSSYSTEM SE 999618757 1 447 611.00 425 956.62
145 BEN CRG-CERCA FUNDACIO CENTRE DE REGULACIO GENOMICA ES 999544455 141 750.00 70 875.00
146 BEN GMS-RS REGION SKANE SE 998165794 37 875.00 18 937.50
147 BEN VIB VIB VZW BE 999651931 25 625.00 12 812.50
148 BEN IPG INSTITUT DE PATHOLOGIE ET DE GENETIQUE ASBL BE 878266034 52 500.00 26 250.00
149 BEN UO UNIVERSITY OF OTAGO NZ 998331567 63 600.00 31 800.00
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Total
Max grant
N° Role Short name Legal name Ctry PIC eligible costs
amount
(BEN and AE)
150 BEN HSJD HOSPITAL SANT JOAN DE DEU ES 997929890 65 000.00 32 500.00
151 AP AZ ASTRAZENECA AB SE 999941379 0.00 0.00
152 AP CHEO-RI CHILDREN'S HOSPITAL OF EASTERN ONTARIO CA 907681187 0.00 0.00
RESEARCH INSTITUTE INC
153 AP CIHR CANADIAN INSTITUTES OF HEALTH RESEARCH CA 960368386 0.00 0.00
154 AP DFG DEUTSCHE FORSCHUNGSGEMEINSCHAFT EV DE 999547462 0.00 0.00
155 AP FDB FUJIFILM DIOSYNTH BIOTECHNOLOGIES UK UK 962770494 0.00 0.00
LIMITED
156 AP FRQS FONDS DE RECHERCHE DU QUEBEC - SANTE CA 963122410 0.00 0.00
157 AP HIPRA HIPRA HUMAN HEALTH SL ES 890821326 0.00 0.00
158 AP LAB HIPRA LABORATORIOS HIPRA SA ES 991274041 0.00 0.00
159 AP MICYRN MICYRN CA 880745451 0.00 0.00
160 AP Miltenyi MILTENYI BIOTEC BV & CO KG DE 897602402 0.00 0.00
161 AP Pfizer PFIZER INC US 887211374 0.00 0.00
(IO)
162 AP RCC DEPARTMENT OF HEALTH GOVERNMENT OF AU 960480421 0.00 0.00
WESTERN AUSTRALIA
163 AP REI REITHERA SRL IT 998129419 0.00 0.00
164 AP RJF LABORATORIO REIG JOFRE SA ES 951005073 0.00 0.00
165 AP ROCHE F. HOFFMANN-LA ROCHE AG CH 999601782 0.00 0.00
166 AP SNSF SCHWEIZERISCHER NATIONALFONDS ZUR CH 999540575 0.00 0.00
FORDERUNG DER WISSENSCHAFTLICHEN
FORSCHUNG
167 AP UCB UCB BIOPHARMA BE 937666409 0.00 0.00
168 AP Fraunhofer UK FRAUNHOFER UK RESEARCH LIMITED UK 952487039 0.00 0.00
169 AP GA UK GENETIC ALLIANCE UK LTD UK 999790932 0.00 0.00
170 AP UNEW UNIVERSITY OF NEWCASTLE UPON TYNE UK 999985417 0.00 0.00
171 AP CUH Cambridge University Hospitals NHS Foundation Trust UK 991793961 0.00 0.00
172 AP ULEIC UNIVERSITY OF LEICESTER UK 999985514 0.00 0.00
173 AP QUB-UK THE QUEEN'S UNIVERSITY OF BELFAST UK 999992013 0.00 0.00
174 AP UCL UNIVERSITY COLLEGE LONDON UK 999975620 0.00 0.00
175 AP UCAM THE CHANCELLOR MASTERS AND SCHOLARS OF UK 999977172 0.00 0.00
THE UNIVERSITY OF CAMBRIDGE
Total 145 830 619.47 56 317 412.61
Coordinator:
– INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
3. Grant
Maximum grant amount, total estimated eligible costs and contributions and funding rate:
Total eligible costs Funding rate Maximum grant amount Maximum grant amount
(BEN and AE) (%) (Annex 2) (award decision)
145 830 619.47 50 56 317 412.61 56 317 412.61
Grant form: Budget-based
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Grant mode: Action grant
Budget categories/activity types:
- A. Personnel costs
- A.1 Employees, A.2 Natural persons under direct contract, A.3 Seconded persons
- A.4 SME owners and natural person beneficiaries
- B. Subcontracting costs
- C. Purchase costs
- C.1 Travel and subsistence
- C.2 Equipment
- C.3 Other goods, works and services
- D. Other cost categories
- D.1 Financial support to third parties
- D.2 Internally invoiced goods and services
- E. Indirect costs
Cost eligibility options:
- In-kind contributions eligible costs
- Parental leave
- Project-based supplementary payments
- Average personnel costs (unit cost according to usual cost accounting practices)
- Limitation for subcontracting
- Travel and subsistence:
- Travel: Actual costs
- Accommodation: Actual costs
- Subsistence: Actual costs
- Equipment: depreciation only
- Costs for providing financial support to third parties (actual cost; max amount for each recipient:
EUR 10 000 000.00)
- Indirect cost flat-rate: 25% of the eligible direct costs (categories A-D, except volunteers costs, subcontracting
costs, financial support to third parties and exempted specific cost categories, if any)
- VAT: Yes
- Other ineligible costs
Budget flexibility: Yes (no flexibility cap)
4. Reporting, payments and recoveries
4.1 Continuous reporting (art 21)
Deliverables: see Funding & Tenders Portal Continuous Reporting tool
4.2 Periodic reporting and payments
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Reporting and payment schedule (art 21, 22):
Reporting Payments
Deadline
Reporting periods Type Deadline Type
(time to pay)
RP No Month from Month to
30 days from entry
into force/10 days
Initial prefinancing before starting
date – whichever
is the latest
1 1 26 Periodic report 60 days after end Interim payment 90 days from
of reporting period receiving
periodic report
2 27 44 Periodic report 60 days after end Interim payment 90 days from
of reporting period receiving
periodic report
3 45 62 Periodic report 60 days after end Interim payment 90 days from
of reporting period receiving
periodic report
4 63 74 Periodic report 60 days after end Interim payment 90 days from
of reporting period receiving
periodic report
5 75 84 Periodic report 60 days after end Final payment 90 days from
of reporting period receiving
periodic report
Prefinancing payments and guarantees:
Prefinancing payment
Type Amount
Prefinancing 1 (initial) 22 526 965.04
Reporting and payment modalities (art 21, 22):
Mutual Insurance Mechanism (MIM): Yes
MIM contribution: 5% of the maximum grant amount (2 815 870.63), retained from the initial prefinancing
Restrictions on distribution of initial prefinancing: The prefinancing may be distributed only if the minimum number of
beneficiaries set out in the call condititions (if any) have acceded to the Agreement and only to beneficiaries that have
acceded.
Interim payment ceiling (if any): 90% of the maximum grant amount
Exception for revenues: Yes
No-profit rule: Yes
Late payment interest: ECB + 3.5%
Bank account for payments:
FR7610071750000000100507196
Conversion into euros: Double conversion
Reporting language: Language of the Agreement
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4.3 Certificates (art 24):
Certificates on the financial statements (CFS):
Conditions:
Schedule: only at final payment, if threshold is reached
Standard threshold (beneficiary-level):
- financial statement: requested EU contribution to costs ≥ EUR 430 000.00
Special threshold for beneficiaries with a systems and process audit(see Article 24): financial statement: requested
EU contribution to costs ≥ EUR 725 000.00
4.4 Recoveries (art 22)
First-line liability for recoveries:
Beneficiary termination: Beneficiary concerned
Final payment: Each beneficiary for their own debt
After final payment: Beneficiary concerned
Joint and several liability for enforced recoveries (in case of non-payment):
Individual financial responsibility: Each beneficiary is liable only for its own debts (and those of its affiliated entities,
if any)
Joint and several liability of affiliated entities — n/a
5. Consequences of non-compliance, applicable law & dispute settlement forum
Suspension and termination:
Additional suspension grounds (art 31)
Additional termination grounds (art 32)
Applicable law (art 43):
Standard applicable law regime: EU law + law of Belgium
Dispute settlement forum (art 43):
Standard dispute settlement forum:
EU beneficiaries: EU General Court + EU Court of Justice (on appeal)
Non-EU beneficiaries: Courts of Brussels, Belgium (unless an international agreement provides for the
enforceability of EU court judgements)
6. Other
Specific rules (Annex 5): Yes
Standard time-limits after project end:
Confidentiality (for X years after final payment): 5
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Record-keeping (for X years after final payment): 5 (or 3 for grants of not more than EUR 60 000)
Reviews (up to X years after final payment): 2
Audits (up to X years after final payment): 2
Extension of findings from other grants to this grant (no later than X years after final payment): 2
Impact evaluation (up to X years after final payment): 5 (or 3 for grants of not more than EUR 60 000)
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CHAPTER 1 GENERAL
ARTICLE 1 — SUBJECT OF THE AGREEMENT
This Agreement sets out the rights and obligations and terms and conditions applicable to the grant
awarded for the implementation of the action set out in Chapter 2.
ARTICLE 2 — DEFINITIONS
For the purpose of this Agreement, the following definitions apply:
Actions — The project which is being funded in the context of this Agreement.
Grant — The grant awarded in the context of this Agreement.
EU grants — Grants awarded by EU institutions, bodies, offices or agencies (including EU executive
agencies, EU regulatory agencies, EDA, joint undertakings, etc.).
Participants — Entities participating in the action as beneficiaries, affiliated entities, associated
partners, third parties giving in-kind contributions, subcontractors or recipients of
financial support to third parties.
Beneficiaries (BEN) — The signatories of this Agreement (either directly or through an accession
form).
Affiliated entities (AE) — Entities affiliated to a beneficiary within the meaning of Article 187 of
EU Financial Regulation 2018/10464 which participate in the action with similar rights
and obligations as the beneficiaries (obligation to implement action tasks and right to
charge costs and claim contributions).
Associated partners (AP) — Entities which participate in the action, but without the right to charge
costs or claim contributions.
Purchases — Contracts for goods, works or services needed to carry out the action (e.g. equipment,
consumables and supplies) but which are not part of the action tasks (see Annex 1).
Subcontracting — Contracts for goods, works or services that are part of the action tasks (see Annex 1).
In-kind contributions — In-kind contributions within the meaning of Article 2(36) of EU Financial
4 For the definition, see Article 187 Regulation (EU, Euratom) 2018/1046 of the European Parliament and of the Council
of 18 July 2018 on the financial rules applicable to the general budget of the Union, amending Regulations (EU)
No 1296/2013, (EU) No 1301/2013, (EU) No 1303/2013, (EU) No 1304/2013, (EU) No 1309/2013, (EU) No 1316/2013,
(EU) No 223/2014, (EU) No 283/2014, and Decision No 541/2014/EU and repealing Regulation (EU, Euratom)
No 966/2012 (‘EU Financial Regulation’) (OJ L 193, 30.7.2018, p. 1): “affiliated entities [are]:
(a) entities that form a sole beneficiary [(i.e. where an entity is formed of several entities that satisfy the criteria for
being awarded a grant, including where the entity is specifically established for the purpose of implementing an
action to be financed by a grant)];
(b) entities that satisfy the eligibility criteria and that do not fall within one of the situations referred to in Article 136(1)
and 141(1) and that have a link with the beneficiary, in particular a legal or capital link, which is neither limited to
the action nor established for the sole purpose of its implementation”.
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Regulation 2018/1046, i.e. non-financial resources made available free of charge by
third parties.
Fraud — Fraud within the meaning of Article 3 of EU Directive 2017/13715 and Article 1 of the
Convention on the protection of the European Communities’ financial interests, drawn
up by the Council Act of 26 July 19956, as well as any other wrongful or criminal
deception intended to result in financial or personal gain.
Irregularities — Any type of breach (regulatory or contractual) which could impact the EU
financial interests, including irregularities within the meaning of Article 1(2) of EU
Regulation 2988/957.
Grave professional misconduct — Any type of unacceptable or improper behaviour in exercising one’s
profession, especially by employees, including grave professional misconduct within
the meaning of Article 136(1)(c) of EU Financial Regulation 2018/1046.
Applicable EU, international and national law — Any legal acts or other (binding or non-binding)
rules and guidance in the area concerned.
Portal — EU Funding & Tenders Portal; electronic portal and exchange system managed by the
European Commission and used by itself and other EU institutions, bodies, offices
or agencies for the management of their funding programmes (grants, procurements,
prizes, etc.).
CHAPTER 2 ACTION
ARTICLE 3 — ACTION
The grant is awarded for the action 101156595 — ERDERA (‘action’), as described in Annex 1.
ARTICLE 4 — DURATION AND STARTING DATE
The duration and the starting date of the action are set out in the Data Sheet (see Point 1).
CHAPTER 3 GRANT
ARTICLE 5 — GRANT
5.1 Form of grant
The grant is an action grant8 which takes the form of a budget-based mixed actual cost grant (i.e. a
5 Directive (EU) 2017/1371 of the European Parliament and of the Council of 5 July 2017 on the fight against fraud to
the Union’s financial interests by means of criminal law (OJ L 198, 28.7.2017, p. 29).
6 OJ C 316, 27.11.1995, p. 48.
7 Council Regulation (EC, Euratom) No 2988/95 of 18 December 1995 on the protection of the European Communities
financial interests (OJ L 312, 23.12.1995, p. 1).
8 For the definition, see Article 180(2)(a) EU Financial Regulation 2018/1046: ‘action grant’ means an EU grant to
finance “an action intended to help achieve a Union policy objective”.
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grant based on actual costs incurred, but which may also include other forms of funding, such as unit
costs or contributions, flat-rate costs or contributions, lump sum costs or contributions or financing
not linked to costs).
5.2 Maximum grant amount
The maximum grant amount is set out in the Data Sheet (see Point 3) and in the estimated budget
(Annex 2).
5.3 Funding rate
The funding rate for costs is 50% of the action’s eligible costs.
Contributions are not subject to any funding rate.
5.4 Estimated budget, budget categories and forms of funding
The estimated budget for the action is set out in Annex 2.
It contains the estimated eligible costs and contributions for the action, broken down by participant
and budget category.
Annex 2 also shows the types of costs and contributions (forms of funding)9 to be used for each budget
category.
If unit costs or contributions are used, the details on the calculation will be explained in Annex 2a.
5.5 Budget flexibility
The budget breakdown may be adjusted — without an amendment (see Article 39) — by transfers
(between participants and budget categories), as long as this does not imply any substantive or
important change to the description of the action in Annex 1.
However:
- changes to the budget category for volunteers (if used) always require an amendment
- changes to budget categories with lump sums costs or contributions (if used; including
financing not linked to costs) always require an amendment
- changes to budget categories with higher funding rates or budget ceilings (if used) always
require an amendment
- addition of amounts for subcontracts not provided for in Annex 1 either require an amendment
or simplified approval in accordance with Article 6.2
- other changes require an amendment or simplified approval, if specifically provided for in
Article 6.2
- flexibility caps: not applicable.
9 See Article 125 EU Financial Regulation 2018/1046.
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ARTICLE 6 — ELIGIBLE AND INELIGIBLE COSTS AND CONTRIBUTIONS
In order to be eligible, costs and contributions must meet the eligibility conditions set out in this
Article.
6.1 General eligibility conditions
The general eligibility conditions are the following:
(a) for actual costs:
(i) they must be actually incurred by the beneficiary
(ii) they must be incurred in the period set out in Article 4 (with the exception of costs relating
to the submission of the final periodic report, which may be incurred afterwards; see
Article 21)
(iii) they must be declared under one of the budget categories set out in Article 6.2 and
Annex 2
(iv) they must be incurred in connection with the action as described in Annex 1 and necessary
for its implementation
(v) they must be identifiable and verifiable, in particular recorded in the beneficiary’s
accounts in accordance with the accounting standards applicable in the country where
the beneficiary is established and with the beneficiary’s usual cost accounting practices
(vi) they must comply with the applicable national law on taxes, labour and social security
and
(vii) they must be reasonable, justified and must comply with the principle of sound financial
management, in particular regarding economy and efficiency
(b) for unit costs or contributions (if any):
(i) they must be declared under one of the budget categories set out in Article 6.2 and
Annex 2
(ii) the units must:
- be actually used or produced by the beneficiary in the period set out in Article 4
(with the exception of units relating to the submission of the final periodic report,
which may be used or produced afterwards; see Article 21)
- be necessary for the implementation of the action and
(iii) the number of units must be identifiable and verifiable, in particular supported by records
and documentation (see Article 20)
(c) for flat-rate costs or contributions (if any):
(i) they must be declared under one of the budget categories set out in Article 6.2 and
Annex 2
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(ii) the costs or contributions to which the flat-rate is applied must:
- be eligible
- relate to the period set out in Article 4 (with the exception of costs or contributions
relating to the submission of the final periodic report, which may be incurred
afterwards; see Article 21)
(d) for lump sum costs or contributions (if any):
(i) they must be declared under one of the budget categories set out in Article 6.2 and
Annex 2
(ii) the work must be properly implemented by the beneficiary in accordance with Annex 1
(iii) the deliverables/outputs must be achieved in the period set out in Article 4 (with the
exception of deliverables/outputs relating to the submission of the final periodic report,
which may be achieved afterwards; see Article 21)
(e) for unit, flat-rate or lump sum costs or contributions according to usual cost accounting
practices (if any):
(i) they must fulfil the general eligibility conditions for the type of cost concerned
(ii) the cost accounting practices must be applied in a consistent manner, based on objective
criteria, regardless of the source of funding
(f) for financing not linked to costs (if any): the results must be achieved or the conditions must
be fulfilled as described in Annex 1.
In addition, for direct cost categories (e.g. personnel, travel & subsistence, subcontracting and other
direct costs) only costs that are directly linked to the action implementation and can therefore be
attributed to it directly are eligible. They must not include any indirect costs (i.e. costs that are only
indirectly linked to the action, e.g. via cost drivers).
In-kind contributions provided by third parties free of charge may be declared as eligible direct costs
by the beneficiaries which use them (under the same conditions as if they were their own, provided
that they concern only direct costs and that the third parties and their in-kind contributions are set
out in Annex 1 (or approved ex post in the periodic report, if their use does not entail changes to the
Agreement which would call into question the decision awarding the grant or breach the principle of
equal treatment of applicants; ‘simplified approval procedure’).
6.2 Specific eligibility conditions for each budget category
For each budget category, the specific eligibility conditions are as follows:
Direct costs
A. Personnel costs
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A.1 Costs for employees (or equivalent) are eligible as personnel costs if they fulfil the general
eligibility conditions and are related to personnel working for the beneficiary under an employment
contract (or equivalent appointing act) and assigned to the action.
They must be limited to salaries (including net payments during parental leave), social security
contributions, taxes and other costs linked to the remuneration, if they arise from national law or the
employment contract (or equivalent appointing act) and be calculated on the basis of the costs actually
incurred, in accordance with the following method:
{daily rate for the person
multiplied by
number of day-equivalents worked on the action (rounded up or down to the nearest half-day)}.
The daily rate must be calculated as:
{annual personnel costs for the person
divided by
215}.
The number of day-equivalents declared for a person must be identifiable and verifiable (see
Article 20).
The actual time spent on parental leave by a person assigned to the action may be deducted from the
215 days indicated in the above formula.
The total number of day-equivalents declared in EU grants, for a person for a year, cannot be higher
than 215, minus time spent on parental leave (if any).
For personnel which receives supplementary payments for work in projects (project-based
remuneration), the personnel costs must be calculated at a rate which:
- corresponds to the actual remuneration costs paid by the beneficiary for the time worked by
the person in the action over the reporting period
- does not exceed the remuneration costs paid by the beneficiary for work in similar projects
funded by national schemes (‘national projects reference’)
- is defined based on objective criteria allowing to determine the amount to which the person
is entitled
and
- reflects the usual practice of the beneficiary to pay consistently bonuses or supplementary
payments for work in projects funded by national schemes.
The national projects reference is the remuneration defined in national law, collective labour
agreement or written internal rules of the beneficiary applicable to work in projects funded by national
schemes.
If there is no such national law, collective labour agreement or written internal rules or if the project-
based remuneration is not based on objective criteria, the national project reference will be the average
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remuneration of the person in the last full calendar year covered by the reporting period, excluding
remuneration paid for work in EU actions.
If the beneficiary uses average personnel costs (unit cost according to usual cost accounting practices),
the personnel costs must fulfil the general eligibility conditions for such unit costs and the daily rate
must be calculated:
- using the actual personnel costs recorded in the beneficiary’s accounts and excluding any
costs which are ineligible or already included in other budget categories; the actual personnel
costs may be adjusted on the basis of budgeted or estimated elements, if they are relevant
for calculating the personnel costs, reasonable and correspond to objective and verifiable
information
and
- according to usual cost accounting practices which are applied in a consistent manner, based
on objective criteria, regardless of the source of funding.
A.2 and A.3 Costs for natural persons working under a direct contract other than an employment
contract and costs for seconded persons by a third party against payment are also eligible as
personnel costs, if they are assigned to the action, fulfil the general eligibility conditions and:
(a) work under conditions similar to those of an employee (in particular regarding the way the
work is organised, the tasks that are performed and the premises where they are performed) and
(b) the result of the work belongs to the beneficiary (unless agreed otherwise).
They must be calculated on the basis of a rate which corresponds to the costs actually incurred for
the direct contract or secondment and must not be significantly different from those for personnel
performing similar tasks under an employment contract with the beneficiary.
A.4 The work of SME owners for the action (i.e. owners of beneficiaries that are small and medium-
sized enterprises10 not receiving a salary) or natural person beneficiaries (i.e. beneficiaries that are
natural persons not receiving a salary) may be declared as personnel costs, if they fulfil the general
eligibility conditions and are calculated as unit costs in accordance with the method set out in Annex
2a.
B. Subcontracting costs
Subcontracting costs for the action (including related duties, taxes and charges, such as non-
deductible or non-refundable value added tax (VAT)) are eligible, if they are calculated on the basis
of the costs actually incurred, fulfil the general eligibility conditions and are awarded using the
10 For the definition, see Commission Recommendation 2003/361/EC: micro, small or medium-sized enterprise (SME)
are enterprises
- engaged in an economic activity, irrespective of their legal form (including, in particular, self- employed persons
and family businesses engaged in craft or other activities, and partnerships or associations regularly engaged
in an economic activity) and
- employing fewer than 250 persons (expressed in ‘annual working units’ as defined in Article 5 of the
Recommendation) and which have an annual turnover not exceeding EUR 50 million, and/or an annual balance
sheet total not exceeding EUR 43 million.
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beneficiary’s usual purchasing practices — provided these ensure subcontracts with best value for
money (or if appropriate the lowest price) and that there is no conflict of interests (see Article 12).
Beneficiaries that are ‘contracting authorities/entities’ within the meaning of the EU Directives on
public procurement must also comply with the applicable national law on public procurement.
Subcontracting may cover only a limited part of the action.
The tasks to be subcontracted and the estimated cost for each subcontract must be set out in Annex 1
and the total estimated costs of subcontracting per beneficiary must be set out in Annex 2 (or may
be approved ex post in the periodic report, if the use of subcontracting does not entail changes to the
Agreement which would call into question the decision awarding the grant or breach the principle of
equal treatment of applicants; ‘simplified approval procedure’).
C. Purchase costs
Purchase costs for the action (including related duties, taxes and charges, such as non-deductible or
non-refundable value added tax (VAT)) are eligible if they fulfil the general eligibility conditions and
are bought using the beneficiary’s usual purchasing practices — provided these ensure purchases with
best value for money (or if appropriate the lowest price) and that there is no conflict of interests (see
Article 12).
Beneficiaries that are ‘contracting authorities/entities’ within the meaning of the EU Directives on
public procurement must also comply with the applicable national law on public procurement.
C.1 Travel and subsistence
Purchases for travel, accommodation and subsistence must be calculated as follows:
- travel: on the basis of the costs actually incurred and in line with the beneficiary’s usual
practices on travel
- accommodation: on the basis of the costs actually incurred and in line with the beneficiary’s
usual practices on travel
- subsistence: on the basis of the costs actually incurred and in line with the beneficiary’s usual
practices on travel .
C.2 Equipment
Purchases of equipment, infrastructure or other assets used for the action must be declared as
depreciation costs, calculated on the basis of the costs actually incurred and written off in accordance
with international accounting standards and the beneficiary’s usual accounting practices.
Only the portion of the costs that corresponds to the rate of actual use for the action during the action
duration can be taken into account.
Costs for renting or leasing equipment, infrastructure or other assets are also eligible, if they do not
exceed the depreciation costs of similar equipment, infrastructure or assets and do not include any
financing fees.
C.3 Other goods, works and services
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Purchases of other goods, works and services must be calculated on the basis of the costs actually
incurred.
Such goods, works and services include, for instance, consumables and supplies, promotion,
dissemination, protection of results, translations, publications, certificates and financial guarantees,
if required under the Agreement.
D. Other cost categories
D.1 Financial support to third parties
Costs for providing financial support to third parties (in the form of grants, prizes or similar
forms of support; if any) are eligible, if and as declared eligible in the call conditions, if they fulfil the
general eligibility conditions, are calculated on the basis of the costs actually incurred and the support
is implemented in accordance with the conditions set out in Annex 1.
These conditions must ensure objective and transparent selection procedures and include at least the
following:
(a) for grants (or similar):
(i) the maximum amount of financial support for each third party (‘recipient’); this amount
may not exceed the amount set out in the Data Sheet (see Point 3) or otherwise agreed
with the granting authority
(ii) the criteria for calculating the exact amount of the financial support
(iii) the different types of activity that qualify for financial support, on the basis of a closed list
(iv) the persons or categories of persons that will be supported and
(v) the criteria and procedures for giving financial support
(b) for prizes (or similar):
(i) the eligibility and award criteria
(ii) the amount of the prize and
(iii) the payment arrangements.
This cost will not be taken into account for the indirect cost flat-rate.
D.2 Internally invoiced goods and services
Costs for internally invoiced goods and services directly used for the action may be declared as unit
cost according to usual cost accounting practices, if and as declared eligible in the call conditions, if
they fulfil the general eligibility conditions for such unit costs and the amount per unit is calculated:
- using the actual costs for the good or service recorded in the beneficiary’s accounts, attributed
either by direct measurement or on the basis of cost drivers, and excluding any cost which
are ineligible or already included in other budget categories; the actual costs may be adjusted
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on the basis of budgeted or estimated elements, if they are relevant for calculating the costs,
reasonable and correspond to objective and verifiable information
and
- according to usual cost accounting practices which are applied in a consistent manner, based
on objective criteria, regardless of the source of funding.
‘Internally invoiced goods and services’ means goods or services which are provided within the
beneficiary’s organisation directly for the action and which the beneficiary values on the basis of its
usual cost accounting practices.
This cost will not be taken into account for the indirect cost flat-rate.
Indirect costs
E. Indirect costs
Indirect costs will be reimbursed at the flat-rate of 25% of the eligible direct costs (categories A-D,
except volunteers costs, subcontracting costs, financial support to third parties and exempted specific
cost categories, if any).
Contributions
Not applicable
6.3 Ineligible costs and contributions
The following costs or contributions are ineligible:
(a) costs or contributions that do not comply with the conditions set out above (Article 6.1 and
6.2), in particular:
(i) costs related to return on capital and dividends paid by a beneficiary
(ii) debt and debt service charges
(iii) provisions for future losses or debts
(iv) interest owed
(v) currency exchange losses
(vi) bank costs charged by the beneficiary’s bank for transfers from the granting authority
(vii) excessive or reckless expenditure
(viii) deductible or refundable VAT (including VAT paid by public bodies acting as public
authority)
(ix) costs incurred or contributions for activities implemented during grant agreement
suspension (see Article 31)
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(x) in-kind contributions by third parties: not applicable
(b) costs or contributions declared under other EU grants (or grants awarded by an EU Member
State, non-EU country or other body implementing the EU budget), except for the following
cases:
(i) Synergy actions: not applicable
(ii) if the action grant is combined with an operating grant11 running during the same period
and the beneficiary can demonstrate that the operating grant does not cover any (direct
or indirect) costs of the action grant
(c) costs or contributions for staff of a national (or regional/local) administration, for activities that
are part of the administration’s normal activities (i.e. not undertaken only because of the grant)
(d) costs or contributions (especially travel and subsistence) for staff or representatives of EU
institutions, bodies or agencies
(e) other :
(i) country restrictions for eligible costs: not applicable
(ii) costs or contributions declared specifically ineligible in the call conditions.
6.4 Consequences of non-compliance
If a beneficiary declares costs or contributions that are ineligible, they will be rejected (see Article 27).
This may also lead to other measures described in Chapter 5.
CHAPTER 4 GRANT IMPLEMENTATION
SECTION 1 CONSORTIUM: BENEFICIARIES, AFFILIATED ENTITIES AND OTHER
PARTICIPANTS
ARTICLE 7 — BENEFICIARIES
The beneficiaries, as signatories of the Agreement, are fully responsible towards the granting authority
for implementing it and for complying with all its obligations.
They must implement the Agreement to their best abilities, in good faith and in accordance with all
the obligations and terms and conditions it sets out.
They must have the appropriate resources to implement the action and implement the action under
their own responsibility and in accordance with Article 11. If they rely on affiliated entities or other
11 For the definition, see Article 180(2)(b) of EU Financial Regulation 2018/1046: ‘operating grant’ means an EU grant
to finance “the functioning of a body which has an objective forming part of and supporting an EU policy”.
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participants (see Articles 8 and 9), they retain sole responsibility towards the granting authority and
the other beneficiaries.
They are jointly responsible for the technical implementation of the action. If one of the beneficiaries
fails to implement their part of the action, the other beneficiaries must ensure that this part is
implemented by someone else (without being entitled to an increase of the maximum grant amount
and subject to an amendment; see Article 39). The financial responsibility of each beneficiary in case
of recoveries is governed by Article 22.
The beneficiaries (and their action) must remain eligible under the EU programme funding the grant
for the entire duration of the action. Costs and contributions will be eligible only as long as the
beneficiary and the action are eligible.
The internal roles and responsibilities of the beneficiaries are divided as follows:
(a) Each beneficiary must:
(i) keep information stored in the Portal Participant Register up to date (see Article 19)
(ii) inform the granting authority (and the other beneficiaries) immediately of any events or
circumstances likely to affect significantly or delay the implementation of the action (see
Article 19)
(iii) submit to the coordinator in good time:
- the prefinancing guarantees (if required; see Article 23)
- the financial statements and certificates on the financial statements (CFS) (if
required; see Articles 21 and 24.2 and Data Sheet, Point 4.3)
- the contribution to the deliverables and technical reports (see Article 21)
- any other documents or information required by the granting authority under the
Agreement
(iv) submit via the Portal data and information related to the participation of their affiliated
entities.
(b) The coordinator must:
(i) monitor that the action is implemented properly (see Article 11)
(ii) act as the intermediary for all communications between the consortium and the granting
authority, unless the Agreement or granting authority specifies otherwise, and in
particular:
- submit the prefinancing guarantees to the granting authority (if any)
- request and review any documents or information required and verify their quality
and completeness before passing them on to the granting authority
- submit the deliverables and reports to the granting authority
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- inform the granting authority about the payments made to the other beneficiaries
(report on the distribution of payments; if required, see Articles 22 and 32)
(iii) distribute the payments received from the granting authority to the other beneficiaries
without unjustified delay (see Article 22).
The coordinator may not delegate or subcontract the above-mentioned tasks to any other beneficiary
or third party (including affiliated entities).
However, coordinators which are public bodies may delegate the tasks set out in Point (b)(ii) last
indent and (iii) above to entities with ‘authorisation to administer’ which they have created or which
are controlled by or affiliated to them. In this case, the coordinator retains sole responsibility for the
payments and for compliance with the obligations under the Agreement.
Moreover, coordinators which are ‘sole beneficiaries’12 (or similar, such as European research
infrastructure consortia (ERICs)) may delegate the tasks set out in Point (b)(i) to (iii) above to one of
their members. The coordinator retains sole responsibility for compliance with the obligations under
the Agreement.
The beneficiaries must have internal arrangements regarding their operation and co-ordination, to
ensure that the action is implemented properly.
If required by the granting authority (see Data Sheet, Point 1), these arrangements must be set out in
a written consortium agreement between the beneficiaries, covering for instance:
- the internal organisation of the consortium
- the management of access to the Portal
- different distribution keys for the payments and financial responsibilities in case of recoveries
(if any)
- additional rules on rights and obligations related to background and results (see Article 16)
- settlement of internal disputes
- liability, indemnification and confidentiality arrangements between the beneficiaries.
The internal arrangements must not contain any provision contrary to this Agreement.
ARTICLE 8 — AFFILIATED ENTITIES
The following entities which are linked to a beneficiary will participate in the action as ‘affiliated
entities’:
- Collecteur Analyseur de Données (CAD), PIC 880793078, linked to INSTITUT NATIONAL
DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)
12 For the definition, see Article 187(2) EU Financial Regulation 2018/1046: “Where several entities satisfy the criteria
for being awarded a grant and together form one entity, that entity may be treated as the sole beneficiary, including
where it is specifically established for the purpose of implementing the action financed by the grant.”
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- AGENTURA PRO ZDRAVOTNICKY VYZKUM CESKE REPUBLIKY AZV CR
(AZV), PIC 878890229, linked to MINISTERSTVO ZDRAVOTNICTVI CESKE
REPUBLIKY (MZd)
- KLINIKUM DER UNIVERSITAT MUNCHEN (KUM), PIC 995625946, linked to
LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN (LMU)
Affiliated entities can charge costs and contributions to the action under the same conditions as the
beneficiaries and must implement the action tasks attributed to them in Annex 1 in accordance with
Article 11.
Their costs and contributions will be included in Annex 2 and will be taken into account for the
calculation of the grant.
The beneficiaries must ensure that all their obligations under this Agreement also apply to their
affiliated entities.
The beneficiaries must ensure that the bodies mentioned in Article 25 (e.g. granting authority, OLAF,
Court of Auditors (ECA), etc.) can exercise their rights also towards the affiliated entities.
Breaches by affiliated entities will be handled in the same manner as breaches by beneficiaries.
Recovery of undue amounts will be handled through the beneficiaries.
If the granting authority requires joint and several liability of affiliated entities (see Data Sheet,
Point 4.4), they must sign the declaration set out in Annex 3a and may be held liable in case of enforced
recoveries against their beneficiaries (see Article 22.2 and 22.4).
ARTICLE 9 — OTHER PARTICIPANTS INVOLVED IN THE ACTION
9.1 Associated partners
The following entities which cooperate with a beneficiary will participate in the action as ‘associated
partners’:
- ASTRAZENECA AB (AZ), PIC 999941379
- CHILDREN'S HOSPITAL OF EASTERN ONTARIO RESEARCH INSTITUTE INC
(CHEO-RI), PIC 907681187
- CANADIAN INSTITUTES OF HEALTH RESEARCH (CIHR), PIC 960368386
- DEUTSCHE FORSCHUNGSGEMEINSCHAFT EV (DFG), PIC 999547462
- FUJIFILM DIOSYNTH BIOTECHNOLOGIES UK LIMITED (FDB), PIC 962770494
- FONDS DE RECHERCHE DU QUEBEC - SANTE (FRQS), PIC 963122410
- HIPRA HUMAN HEALTH SL (HIPRA), PIC 890821326
- LABORATORIOS HIPRA SA (LAB HIPRA), PIC 991274041
- MICYRN (MICYRN), PIC 880745451
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- MILTENYI BIOTEC BV & CO KG (Miltenyi), PIC 897602402
- PFIZER INC (Pfizer), PIC 887211374
- DEPARTMENT OF HEALTH GOVERNMENT OF WESTERN AUSTRALIA (RCC),
PIC 960480421
- REITHERA SRL (REI), PIC 998129419
- LABORATORIO REIG JOFRE SA (RJF), PIC 951005073
- F. HOFFMANN-LA ROCHE AG (ROCHE), PIC 999601782
- SCHWEIZERISCHER NATIONALFONDS ZUR FORDERUNG DER
WISSENSCHAFTLICHEN FORSCHUNG (SNSF), PIC 999540575
- UCB BIOPHARMA (UCB), PIC 937666409
- FRAUNHOFER UK RESEARCH LIMITED (Fraunhofer UK), PIC 952487039
- GENETIC ALLIANCE UK LTD (GA UK), PIC 999790932
- UNIVERSITY OF NEWCASTLE UPON TYNE (UNEW), PIC 999985417
- Cambridge University Hospitals NHS Foundation Trust (CUH), PIC 991793961
- UNIVERSITY OF LEICESTER (ULEIC), PIC 999985514
- THE QUEEN'S UNIVERSITY OF BELFAST (QUB-UK), PIC 999992013
- UNIVERSITY COLLEGE LONDON (UCL), PIC 999975620
- THE CHANCELLOR MASTERS AND SCHOLARS OF THE UNIVERSITY OF
CAMBRIDGE (UCAM), PIC 999977172
Associated partners must implement the action tasks attributed to them in Annex 1 in accordance with
Article 11. They may not charge costs or contributions to the action and the costs for their tasks are
not eligible.
The tasks must be set out in Annex 1.
The beneficiaries must ensure that their contractual obligations under Articles 11 (proper
implementation), 12 (conflict of interests), 13 (confidentiality and security), 14 (ethics), 17.2
(visibility), 18 (specific rules for carrying out action), 19 (information) and 20 (record-keeping) also
apply to the associated partners.
The beneficiaries must ensure that the bodies mentioned in Article 25 (e.g. granting authority, OLAF,
Court of Auditors (ECA), etc.) can exercise their rights also towards the associated partners.
9.2 Third parties giving in-kind contributions to the action
Other third parties may give in-kind contributions to the action (i.e. personnel, equipment, other goods,
works and services, etc. which are free-of-charge) if necessary for the implementation.
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Third parties giving in-kind contributions do not implement any action tasks. They may not charge
costs or contributions to the action, but the costs for the in-kind contributions are eligible and may be
charged by the beneficiaries which use them, under the conditions set out in Article 6. The costs will
be included in Annex 2 as part of the beneficiaries’ costs.
The third parties and their in-kind contributions should be set out in Annex 1.
The beneficiaries must ensure that the bodies mentioned in Article 25 (e.g. granting authority, OLAF,
Court of Auditors (ECA), etc.) can exercise their rights also towards the third parties giving in-kind
contributions.
9.3 Subcontractors
Subcontractors may participate in the action, if necessary for the implementation.
Subcontractors must implement their action tasks in accordance with Article 11. The costs for the
subcontracted tasks (invoiced price from the subcontractor) are eligible and may be charged by the
beneficiaries, under the conditions set out in Article 6. The costs will be included in Annex 2 as part
of the beneficiaries’ costs.
The beneficiaries must ensure that their contractual obligations under Articles 11 (proper
implementation), 12 (conflict of interest), 13 (confidentiality and security), 14 (ethics), 17.2
(visibility), 18 (specific rules for carrying out action), 19 (information) and 20 (record-keeping) also
apply to the subcontractors.
The beneficiaries must ensure that the bodies mentioned in Article 25 (e.g. granting authority, OLAF,
Court of Auditors (ECA), etc.) can exercise their rights also towards the subcontractors.
9.4 Recipients of financial support to third parties
If the action includes providing financial support to third parties (e.g. grants, prizes or similar forms of
support), the beneficiaries must ensure that their contractual obligations under Articles 12 (conflict of
interest), 13 (confidentiality and security), 14 (ethics), 17.2 (visibility), 18 (specific rules for carrying
out action), 19 (information) and 20 (record-keeping)also apply to the third parties receiving the
support (recipients).
The beneficiaries must also ensure that the bodies mentioned in Article 25 (e.g. granting authority,
OLAF, Court of Auditors (ECA), etc.) can exercise their rights also towards the recipients.
ARTICLE 10 — PARTICIPANTS WITH SPECIAL STATUS
10.1 Non-EU participants
Participants which are established in a non-EU country (if any) undertake to comply with their
obligations under the Agreement and:
- to respect general principles (including fundamental rights, values and ethical principles,
environmental and labour standards, rules on classified information, intellectual property
rights, visibility of funding and protection of personal data)
- for the submission of certificates under Article 24: to use qualified external auditors which
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are independent and comply with comparable standards as those set out in EU Directive
2006/43/EC13
- for the controls under Article 25: to allow for checks, reviews, audits and investigations
(including on-the-spot checks, visits and inspections) by the bodies mentioned in that Article
(e.g. granting authority, OLAF, Court of Auditors (ECA), etc.).
Special rules on dispute settlement apply (see Data Sheet, Point 5).
10.2 Participants which are international organisations
Participants which are international organisations (IOs; if any) undertake to comply with their
obligations under the Agreement and:
- to respect general principles (including fundamental rights, values and ethical principles,
environmental and labour standards, rules on classified information, intellectual property
rights, visibility of funding and protection of personal data)
- for the submission of certificates under Article 24: to use either independent public officers or
external auditors which comply with comparable standards as those set out in EU Directive
2006/43/EC
- for the controls under Article 25: to allow for the checks, reviews, audits and investigations
by the bodies mentioned in that Article, taking into account the specific agreements concluded
by them and the EU (if any).
For such participants, nothing in the Agreement will be interpreted as a waiver of their privileges or
immunities, as accorded by their constituent documents or international law.
Special rules on applicable law and dispute settlement apply (see Article 43 and Data Sheet, Point 5).
10.3 Pillar-assessed participants
Pillar-assessed participants (if any) may rely on their own systems, rules and procedures, in so far as
they have been positively assessed and do not call into question the decision awarding the grant or
breach the principle of equal treatment of applicants or beneficiaries.
‘Pillar-assessment’ means a review by the European Commission on the systems, rules and procedures
which participants use for managing EU grants (in particular internal control system, accounting
system, external audits, financing of third parties, rules on recovery and exclusion, information on
recipients and protection of personal data; see Article 154 EU Financial Regulation 2018/1046).
Participants with a positive pillar assessment may rely on their own systems, rules and procedures,
in particular for:
- record-keeping (Article 20): may be done in accordance with internal standards, rules and
procedures
13 Directive 2006/43/EC of the European Parliament and of the Council of 17 May 2006 on statutory audits of annual
accounts and consolidated accounts or similar national regulations (OJ L 157, 9.6.2006, p. 87).
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- currency conversion for financial statements (Article 21): may be done in accordance with
usual accounting practices
- guarantees (Article 23): for public law bodies, prefinancing guarantees are not needed
- certificates (Article 24):
- certificates on the financial statements (CFS): may be provided by their regular internal
or external auditors and in accordance with their internal financial regulations and
procedures
- certificates on usual accounting practices (CoMUC): are not needed if those practices
are covered by an ex-ante assessment
and use the following specific rules, for:
- recoveries (Article 22): in case of financial support to third parties, there will be no recovery if
the participant has done everything possible to retrieve the undue amounts from the third party
receiving the support (including legal proceedings) and non-recovery is not due to an error or
negligence on its part
- checks, reviews, audits and investigations by the EU (Article 25): will be conducted taking
into account the rules and procedures specifically agreed between them and the framework
agreement (if any)
- impact evaluation (Article 26): will be conducted in accordance with the participant’s internal
rules and procedures and the framework agreement (if any)
- grant agreement suspension (Article 31): certain costs incurred during grant suspension are
eligible (notably, minimum costs necessary for a possible resumption of the action and costs
relating to contracts which were entered into before the pre-information letter was received and
which could not reasonably be suspended, reallocated or terminated on legal grounds)
- grant agreement termination (Article 32): the final grant amount and final payment will be
calculated taking into account also costs relating to contracts due for execution only after
termination takes effect, if the contract was entered into before the pre-information letter was
received and could not reasonably be terminated on legal grounds
- liability for damages (Article 33.2): the granting authority must be compensated for damage
it sustains as a result of the implementation of the action or because the action was not
implemented in full compliance with the Agreement only if the damage is due to an
infringement of the participant’s internal rules and procedures or due to a violation of third
parties’ rights by the participant or one of its employees or individual for whom the employees
are responsible.
Participants whose pillar assessment covers procurement and granting procedures may also do
purchases, subcontracting and financial support to third parties (Article 6.2) in accordance with their
internal rules and procedures for purchases, subcontracting and financial support.
Participants whose pillar assessment covers data protection rules may rely on their internal standards,
rules and procedures for data protection (Article 15).
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The participants may however not rely on provisions which would breach the principle of equal
treatment of applicants or beneficiaries or call into question the decision awarding the grant, such as
in particular:
- eligibility (Article 6)
- consortium roles and set-up (Articles 7-9)
- security and ethics (Articles 13, 14)
- IPR (including background and results, access rights and rights of use), communication,
dissemination and visibility (Articles 16 and 17)
- information obligation (Article 19)
- payment, reporting and amendments (Articles 21, 22 and 39)
- rejections, reductions, suspensions and terminations (Articles 27, 28, 29-32)
If the pillar assessment was subject to remedial measures, reliance on the internal systems, rules and
procedures is subject to compliance with those remedial measures.
Participants whose assessment has not yet been updated to cover (the new rules on) data protection
may rely on their internal systems, rules and procedures, provided that they ensure that personal data is:
- processed lawfully, fairly and in a transparent manner in relation to the data subject
- collected for specified, explicit and legitimate purposes and not further processed in a manner
that is incompatible with those purposes
- adequate, relevant and limited to what is necessary in relation to the purposes for which they
are processed
- accurate and, where necessary, kept up to date
- kept in a form which permits identification of data subjects for no longer than is necessary for
the purposes for which the data is processed and
- processed in a manner that ensures appropriate security of the personal data.
Participants must inform the coordinator without delay of any changes to the systems, rules and
procedures that were part of the pillar assessment. The coordinator must immediately inform the
granting authority.
Pillar-assessed participants that have also concluded a framework agreement with the EU, may
moreover — under the same conditions as those above (i.e. not call into question the decision awarding
the grant or breach the principle of equal treatment of applicants or beneficiaries) — rely on the
provisions set out in that framework agreement.
SECTION 2 RULES FOR CARRYING OUT THE ACTION
ARTICLE 11 — PROPER IMPLEMENTATION OF THE ACTION
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11.1 Obligation to properly implement the action
The beneficiaries must implement the action as described in Annex 1 and in compliance with the
provisions of the Agreement, the call conditions and all legal obligations under applicable EU,
international and national law.
11.2 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the grant may be reduced (see
Article 28).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 12 — CONFLICT OF INTERESTS
12.1 Conflict of interests
The beneficiaries must take all measures to prevent any situation where the impartial and objective
implementation of the Agreement could be compromised for reasons involving family, emotional life,
political or national affinity, economic interest or any other direct or indirect interest (‘conflict of
interests’).
They must formally notify the granting authority without delay of any situation constituting or likely
to lead to a conflict of interests and immediately take all the necessary steps to rectify this situation.
The granting authority may verify that the measures taken are appropriate and may require additional
measures to be taken by a specified deadline.
12.2 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the grant may be reduced (see
Article 28) and the grant or the beneficiary may be terminated (see Article 32).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 13 — CONFIDENTIALITY AND SECURITY
13.1 Sensitive information
The parties must keep confidential any data, documents or other material (in any form) that is identified
as sensitive in writing (‘sensitive information’) — during the implementation of the action and for at
least until the time-limit set out in the Data Sheet (see Point 6).
If a beneficiary requests, the granting authority may agree to keep such information confidential for
a longer period.
Unless otherwise agreed between the parties, they may use sensitive information only to implement
the Agreement.
The beneficiaries may disclose sensitive information to their personnel or other participants involved
in the action only if they:
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(a) need to know it in order to implement the Agreement and
(b) are bound by an obligation of confidentiality.
The granting authority may disclose sensitive information to its staff and to other EU institutions and
bodies.
It may moreover disclose sensitive information to third parties, if:
(a) this is necessary to implement the Agreement or safeguard the EU financial interests and
(b) the recipients of the information are bound by an obligation of confidentiality.
The confidentiality obligations no longer apply if:
(a) the disclosing party agrees to release the other party
(b) the information becomes publicly available, without breaching any confidentiality obligation
(c) the disclosure of the sensitive information is required by EU, international or national law.
Specific confidentiality rules (if any) are set out in Annex 5.
13.2 Classified information
The parties must handle classified information in accordance with the applicable EU, international or
national law on classified information (in particular, Decision 2015/44414 and its implementing rules).
Deliverables which contain classified information must be submitted according to special procedures
agreed with the granting authority.
Action tasks involving classified information may be subcontracted only after explicit approval (in
writing) from the granting authority.
Classified information may not be disclosed to any third party (including participants involved in the
action implementation) without prior explicit written approval from the granting authority.
Specific security rules (if any) are set out in Annex 5.
13.3 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the grant may be reduced (see
Article 28).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 14 — ETHICS AND VALUES
14.1 Ethics
14 Commission Decision 2015/444/EC, Euratom of 13 March 2015 on the security rules for protecting EU classified
information (OJ L 72, 17.3.2015, p. 53).
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The action must be carried out in line with the highest ethical standards and the applicable EU,
international and national law on ethical principles.
Specific ethics rules (if any) are set out in Annex 5.
14.2 Values
The beneficiaries must commit to and ensure the respect of basic EU values (such as respect for
human dignity, freedom, democracy, equality, the rule of law and human rights, including the rights
of minorities).
Specific rules on values (if any) are set out in Annex 5.
14.3 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the grant may be reduced (see
Article 28).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 15 — DATA PROTECTION
15.1 Data processing by the granting authority
Any personal data under the Agreement will be processed under the responsibility of the data
controller of the granting authority in accordance with and for the purposes set out in the Portal Privacy
Statement.
For grants where the granting authority is the European Commission, an EU regulatory or executive
agency, joint undertaking or other EU body, the processing will be subject to Regulation 2018/172515.
15.2 Data processing by the beneficiaries
The beneficiaries must process personal data under the Agreement in compliance with the applicable
EU, international and national law on data protection (in particular, Regulation 2016/67916).
They must ensure that personal data is:
- processed lawfully, fairly and in a transparent manner in relation to the data subjects
- collected for specified, explicit and legitimate purposes and not further processed in a manner
that is incompatible with those purposes
15 Regulation (EU) 2018/1725 of the European Parliament and of the Council of 23 October 2018 on the protection of
natural persons with regard to the processing of personal data by the Union institutions, bodies, offices and agencies
and on the free movement of such data, and repealing Regulation (EC) No 45/2001 and Decision No 1247/2002/EC
(OJ L 295, 21.11.2018, p. 39).
16 Regulation (EU) 2016/679 of the European Parliament and of the Council of 27 April 2016 on the protection of natural
persons with regard to the processing of personal data and on the free movement of such data, and repealing Directive
95/46/EC (‘GDPR’) (OJ L 119, 4.5.2016, p. 1).
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- adequate, relevant and limited to what is necessary in relation to the purposes for which they
are processed
- accurate and, where necessary, kept up to date
- kept in a form which permits identification of data subjects for no longer than is necessary for
the purposes for which the data is processed and
- processed in a manner that ensures appropriate security of the data.
The beneficiaries may grant their personnel access to personal data only if it is strictly necessary
for implementing, managing and monitoring the Agreement. The beneficiaries must ensure that the
personnel is under a confidentiality obligation.
The beneficiaries must inform the persons whose data are transferred to the granting authority and
provide them with the Portal Privacy Statement.
15.3 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the grant may be reduced (see
Article 28).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 16 — INTELLECTUAL PROPERTY RIGHTS (IPR) — BACKGROUND AND
RESULTS —ACCESS RIGHTS AND RIGHTS OF USE
16.1 Background and access rights to background
The beneficiaries must give each other and the other participants access to the background identified
as needed for implementing the action, subject to any specific rules in Annex 5.
‘Background’ means any data, know-how or information — whatever its form or nature (tangible or
intangible), including any rights such as intellectual property rights — that is:
(a) held by the beneficiaries before they acceded to the Agreement and
(b) needed to implement the action or exploit the results.
If background is subject to rights of a third party, the beneficiary concerned must ensure that it is able
to comply with its obligations under the Agreement.
16.2 Ownership of results
The granting authority does not obtain ownership of the results produced under the action.
‘Results’ means any tangible or intangible effect of the action, such as data, know-how or information,
whatever its form or nature, whether or not it can be protected, as well as any rights attached to it,
including intellectual property rights.
16.3 Rights of use of the granting authority on materials, documents and information
received for policy, information, communication, dissemination and publicity purposes
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The granting authority has the right to use non-sensitive information relating to the action and
materials and documents received from the beneficiaries (notably summaries for publication,
deliverables, as well as any other material, such as pictures or audio-visual material, in paper or
electronic form) for policy, information, communication, dissemination and publicity purposes —
during the action or afterwards.
The right to use the beneficiaries’ materials, documents and information is granted in the form of a
royalty-free, non-exclusive and irrevocable licence, which includes the following rights:
(a) use for its own purposes (in particular, making them available to persons working for the
granting authority or any other EU service (including institutions, bodies, offices, agencies,
etc.) or EU Member State institution or body; copying or reproducing them in whole or in part,
in unlimited numbers; and communication through press information services)
(b) distribution to the public (in particular, publication as hard copies and in electronic or digital
format, publication on the internet, as a downloadable or non-downloadable file, broadcasting
by any channel, public display or presentation, communicating through press information
services, or inclusion in widely accessible databases or indexes)
(c) editing or redrafting (including shortening, summarising, inserting other elements (e.g.
meta-data, legends, other graphic, visual, audio or text elements), extracting parts (e.g. audio
or video files), dividing into parts, use in a compilation)
(d) translation
(e) storage in paper, electronic or other form
(f) archiving, in line with applicable document-management rules
(g) the right to authorise third parties to act on its behalf or sub-license to third parties the modes
of use set out in Points (b), (c), (d) and (f), if needed for the information, communication and
publicity activity of the granting authority
(h) processing, analysing, aggregating the materials, documents and information received and
producing derivative works.
The rights of use are granted for the whole duration of the industrial or intellectual property rights
concerned.
If materials or documents are subject to moral rights or third party rights (including intellectual
property rights or rights of natural persons on their image and voice), the beneficiaries must ensure
that they comply with their obligations under this Agreement (in particular, by obtaining the necessary
licences and authorisations from the rights holders concerned).
Where applicable, the granting authority will insert the following information:
“© – [year] – [name of the copyright owner]. All rights reserved. Licensed to the [name of granting authority]
under conditions.”
16.4 Specific rules on IPR, results and background
Specific rules regarding intellectual property rights, results and background (if any) are set out in
Annex 5.
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16.5 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the grant may be reduced (see
Article 28).
Such a breach may also lead to other measures described in Chapter 5.
ARTICLE 17 — COMMUNICATION, DISSEMINATION AND VISIBILITY
17.1 Communication — Dissemination — Promoting the action
Unless otherwise agreed with the granting authority, the beneficiaries must promote the action and its
results by providing targeted information to multiple audiences (including the media and the public),
in accordance with Annex 1 and in a strategic, coherent and effective manner.
Before engaging in a communication or dissemination activity expected to have a major media impact,
the beneficiaries must inform the granting authority.
17.2 Visibility — European flag and funding statement
Unless otherwise agreed with the granting authority, communication activities of the beneficiaries
related to the action (including media relations, conferences, seminars, information material, such as
brochures, leaflets, posters, presentations, etc., in electronic form, via traditional or social media, etc.),
dissemination activities and any infrastructure, equipment, vehicles, supplies or major result funded
by the grant must acknowledge EU support and display the European flag (emblem) and funding
statement (translated into local languages, where appropriate):
The emblem must remain distinct and separate and cannot be modified by adding other visual
marks, brands or text.
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Apart from the emblem, no other visual identity or logo may be used to highlight the EU support.
When displayed in association with other logos (e.g. of beneficiaries or sponsors), the emblem must
be displayed at least as prominently and visibly as the other logos.
For the purposes of their obligations under this Article, the beneficiaries may use the emblem without
first obtaining approval from the granting authority. This does not, however, give them the right to
exclusive use. Moreover, they may not appropriate the emblem or any similar trademark or logo, either
by registration or by any other means.
17.3 Quality of information — Disclaimer
Any communication or dissemination activity related to the action must use factually accurate
information.
Moreover, it must indicate the following disclaimer (translated into local languages where
appropriate):
“Funded by the European Union. Views and opinions expressed are however those of the author(s) only
and do not necessarily reflect those of the European Union or [name of the granting authority]. Neither
the European Union nor the granting authority can be held responsible for them.”
17.4 Specific communication, dissemination and visibility rules
Specific communication, dissemination and visibility rules (if any) are set out in Annex 5.
17.5 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the grant may be reduced (see
Article 28).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 18 — SPECIFIC RULES FOR CARRYING OUT THE ACTION
18.1 Specific rules for carrying out the action
Specific rules for implementing the action (if any) are set out in Annex 5.
18.2 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the grant may be reduced (see
Article 28).
Such a breach may also lead to other measures described in Chapter 5.
SECTION 3 GRANT ADMINISTRATION
ARTICLE 19 — GENERAL INFORMATION OBLIGATIONS
19.1 Information requests
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The beneficiaries must provide — during the action or afterwards and in accordance with Article 7 —
any information requested in order to verify eligibility of the costs or contributions declared, proper
implementation of the action and compliance with the other obligations under the Agreement.
The information provided must be accurate, precise and complete and in the format requested,
including electronic format.
19.2 Participant Register data updates
The beneficiaries must keep — at all times, during the action or afterwards — their information stored
in the Portal Participant Register up to date, in particular, their name, address, legal representatives,
legal form and organisation type.
19.3 Information about events and circumstances which impact the action
The beneficiaries must immediately inform the granting authority (and the other beneficiaries) of any
of the following:
(a) events which are likely to affect or delay the implementation of the action or affect the EU’s
financial interests, in particular:
(i) changes in their legal, financial, technical, organisational or ownership situation
(including changes linked to one of the exclusion grounds listed in the declaration of
honour signed before grant signature)
(ii) linked action information: not applicable
(b) circumstances affecting:
(i) the decision to award the grant or
(ii) compliance with requirements under the Agreement.
19.4 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the grant may be reduced (see
Article 28).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 20 — RECORD-KEEPING
20.1 Keeping records and supporting documents
The beneficiaries must — at least until the time-limit set out in the Data Sheet (see Point 6) — keep
records and other supporting documents to prove the proper implementation of the action in line with
the accepted standards in the respective field (if any).
In addition, the beneficiaries must — for the same period — keep the following to justify the amounts
declared:
(a) for actual costs: adequate records and supporting documents to prove the costs declared (such
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as contracts, subcontracts, invoices and accounting records); in addition, the beneficiaries’
usual accounting and internal control procedures must enable direct reconciliation between
the amounts declared, the amounts recorded in their accounts and the amounts stated in the
supporting documents
(b) for flat-rate costs and contributions (if any): adequate records and supporting documents to
prove the eligibility of the costs or contributions to which the flat-rate is applied
(c) for the following simplified costs and contributions: the beneficiaries do not need to keep
specific records on the actual costs incurred, but must keep:
(i) for unit costs and contributions (if any): adequate records and supporting documents to
prove the number of units declared
(ii) for lump sum costs and contributions (if any): adequate records and supporting
documents to prove proper implementation of the work as described in Annex 1
(iii) for financing not linked to costs (if any): adequate records and supporting documents
to prove the achievement of the results or the fulfilment of the conditions as described
in Annex 1
(d) for unit, flat-rate and lump sum costs and contributions according to usual cost accounting
practices (if any): the beneficiaries must keep any adequate records and supporting documents
to prove that their cost accounting practices have been applied in a consistent manner, based on
objective criteria, regardless of the source of funding, and that they comply with the eligibility
conditions set out in Articles 6.1 and 6.2.
Moreover, the following is needed for specific budget categories:
(e) for personnel costs: time worked for the beneficiary under the action must be supported
by declarations signed monthly by the person and their supervisor, unless another reliable
time-record system is in place; the granting authority may accept alternative evidence
supporting the time worked for the action declared, if it considers that it offers an adequate
level of assurance
(f) additional record-keeping rules: not applicable
The records and supporting documents must be made available upon request (see Article 19) or in the
context of checks, reviews, audits or investigations (see Article 25).
If there are on-going checks, reviews, audits, investigations, litigation or other pursuits of claims under
the Agreement (including the extension of findings; see Article 25), the beneficiaries must keep these
records and other supporting documentation until the end of these procedures.
The beneficiaries must keep the original documents. Digital and digitalised documents are considered
originals if they are authorised by the applicable national law. The granting authority may accept
non-original documents if they offer a comparable level of assurance.
20.2 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, costs or contributions insufficiently
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substantiated will be ineligible (see Article 6) and will be rejected (see Article 27), and the grant may
be reduced (see Article 28).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 21 — REPORTING
21.1 Continuous reporting
The beneficiaries must continuously report on the progress of the action (e.g. deliverables,
milestones, outputs/outcomes, critical risks, indicators, etc; if any), in the Portal Continuous
Reporting tool and in accordance with the timing and conditions it sets out (as agreed with the granting
authority).
Standardised deliverables (e.g. progress reports not linked to payments, reports on cumulative
expenditure, special reports, etc; if any) must be submitted using the templates published on the Portal.
21.2 Periodic reporting: Technical reports and financial statements
In addition, the beneficiaries must provide reports to request payments, in accordance with the
schedule and modalities set out in the Data Sheet (see Point 4.2):
- for additional prefinancings (if any): an additional prefinancing report
- for interim payments (if any) and the final payment: a periodic report.
The prefinancing and periodic reports include a technical and financial part.
The technical part includes an overview of the action implementation. It must be prepared using the
template available in the Portal Periodic Reporting tool.
The financial part of the additional prefinancing report includes a statement on the use of the previous
prefinancing payment.
The financial part of the periodic report includes:
- the financial statements (individual and consolidated; for all beneficiaries/affiliated entities)
- the explanation on the use of resources (or detailed cost reporting table, if required)
- the certificates on the financial statements (CFS) (if required; see Article 24.2 and Data Sheet,
Point 4.3).
The financial statements must detail the eligible costs and contributions for each budget category
and, for the final payment, also the revenues for the action (see Articles 6 and 22).
All eligible costs and contributions incurred should be declared, even if they exceed the amounts
indicated in the estimated budget (see Annex 2). Amounts that are not declared in the individual
financial statements will not be taken into account by the granting authority.
By signing the financial statements (directly in the Portal Periodic Reporting tool), the beneficiaries
confirm that:
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- the information provided is complete, reliable and true
- the costs and contributions declared are eligible (see Article 6)
- the costs and contributions can be substantiated by adequate records and supporting documents
(see Article 20) that will be produced upon request (see Article 19) or in the context of checks,
reviews, audits and investigations (see Article 25)
- for the final periodic report: all the revenues have been declared (if required; see Article 22).
Beneficiaries will have to submit also the financial statements of their affiliated entities (if any). In case
of recoveries (see Article 22), beneficiaries will be held responsible also for the financial statements
of their affiliated entities.
21.3 Currency for financial statements and conversion into euros
The financial statements must be drafted in euro.
Beneficiaries with general accounts established in a currency other than the euro must convert the
costs recorded in their accounts into euro, at the average of the daily exchange rates published in the C
series of the Official Journal of the European Union (ECB website), calculated over the corresponding
reporting period.
If no daily euro exchange rate is published in the Official Journal for the currency in question, they
must be converted at the average of the monthly accounting exchange rates published on the European
Commission website (InforEuro), calculated over the corresponding reporting period.
Beneficiaries with general accounts in euro must convert costs incurred in another currency into euro
according to their usual accounting practices.
21.4 Reporting language
The reporting must be in the language of the Agreement, unless otherwise agreed with the granting
authority (see Data Sheet, Point 4.2).
21.5 Consequences of non-compliance
If a report submitted does not comply with this Article, the granting authority may suspend the
payment deadline (see Article 29) and apply other measures described in Chapter 5.
If the coordinator breaches its reporting obligations, the granting authority may terminate the grant or
the coordinator’s participation (see Article 32) or apply other measures described in Chapter 5.
ARTICLE 22 — PAYMENTS AND RECOVERIES — CALCULATION OF AMOUNTS
DUE
22.1 Payments and payment arrangements
Payments will be made in accordance with the schedule and modalities set out in the Data Sheet (see
Point 4.2).
They will be made in euro to the bank account indicated by the coordinator (see Data Sheet, Point 4.2)
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and must be distributed without unjustified delay (restrictions may apply to distribution of the initial
prefinancing payment; see Data Sheet, Point 4.2).
Payments to this bank account will discharge the granting authority from its payment obligation.
The cost of payment transfers will be borne as follows:
- the granting authority bears the cost of transfers charged by its bank
- the beneficiary bears the cost of transfers charged by its bank
- the party causing a repetition of a transfer bears all costs of the repeated transfer.
Payments by the granting authority will be considered to have been carried out on the date when they
are debited to its account.
22.2 Recoveries
Recoveries will be made, if — at beneficiary termination, final payment or afterwards — it turns out
that the granting authority has paid too much and needs to recover the amounts undue.
Each beneficiary’s financial responsibility in case of recovery is in principle limited to their own debt
and undue amounts of their affiliated entities.
In case of enforced recoveries (see Article 22.4), affiliated entities will be held liable for repaying
debts of their beneficiaries, if required by the granting authority (see Data Sheet, Point 4.4).
22.3 Amounts due
22.3.1 Prefinancing payments
The aim of the prefinancing is to provide the beneficiaries with a float.
It remains the property of the EU until the final payment.
For initial prefinancings (if any), the amount due, schedule and modalities are set out in the
Data Sheet (see Point 4.2).
For additional prefinancings (if any), the amount due, schedule and modalities are also set out in
the Data Sheet (see Point 4.2). However, if the statement on the use of the previous prefinancing
payment shows that less than 70% was used, the amount set out in the Data Sheet will be reduced by
the difference between the 70% threshold and the amount used.
The contribution to the Mutual Insurance Mechanism will be retained from the prefinancing payments
(at the rate and in accordance with the modalities set out in the Data Sheet, see Point 4.2) and
transferred to the Mechanism.
Prefinancing payments (or parts of them) may be offset (without the beneficiaries’ consent) against
amounts owed by a beneficiary to the granting authority — up to the amount due to that beneficiary.
For grants where the granting authority is the European Commission or an EU executive agency,
offsetting may also be done against amounts owed to other Commission services or executive
agencies.
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Payments will not be made if the payment deadline or payments are suspended (see Articles 29 and
30).
22.3.2 Amount due at beneficiary termination — Recovery
In case of beneficiary termination, the granting authority will determine the provisional amount due
for the beneficiary concerned. Payments (if any) will be made with the next interim or final payment.
The amount due will be calculated in the following step:
Step 1 — Calculation of the total accepted EU contribution
Step 1 — Calculation of the total accepted EU contribution
The granting authority will first calculate the ‘accepted EU contribution’ for the beneficiary for all
reporting periods, by calculating the ‘maximum EU contribution to costs’ (applying the funding rate
to the accepted costs of the beneficiary), taking into account requests for a lower contribution to costs
and CFS threshold cappings (if any; see Article 24.5) and adding the contributions (accepted unit,
flat-rate or lump sum contributions and financing not linked to costs, if any).
After that, the granting authority will take into account grant reductions (if any). The resulting amount
is the ‘total accepted EU contribution’ for the beneficiary.
The balance is then calculated by deducting the payments received (if any; see report on the
distribution of payments in Article 32), from the total accepted EU contribution:
{total accepted EU contribution for the beneficiary
minus
{prefinancing and interim payments received (if any)}}.
If the balance is positive, the amount will be included in the next interim or final payment to the
consortium.
If the balance is negative, it will be recovered in accordance with the following procedure:
The granting authority will send a pre-information letter to the beneficiary concerned:
- formally notifying the intention to recover, the amount due, the amount to be recovered and
the reasons why and
- requesting observations within 30 days of receiving notification.
If no observations are submitted (or the granting authority decides to pursue recovery despite the
observations it has received), it will confirm the amount to be recovered and ask this amount to be
paid to the coordinator (confirmation letter).
If payment is not made to the coordinator by the date specified in the confirmation letter, the granting
authority may call on the Mutual Insurance Mechanism to intervene, if continuation of the action is
guaranteed and the conditions set out in the rules governing the Mechanism are met.
In this case, it will send a beneficiary recovery letter, together with a debit note with the terms and
date for payment.
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The debit note for the beneficiary will include the amount calculated for the affiliated entities which
also had to end their participation (if any).
If payment is not made by the date specified in the debit note, the granting authority will enforce
recovery in accordance with Article 22.4.
The amounts will later on also be taken into account for the next interim or final payment.
22.3.3 Interim payments
Interim payments reimburse the eligible costs and contributions claimed for the implementation of
the action during the reporting periods (if any).
Interim payments (if any) will be made in accordance with the schedule and modalities set out the
Data Sheet (see Point 4.2).
Payment is subject to the approval of the periodic report. Its approval does not imply recognition of
compliance, authenticity, completeness or correctness of its content.
The interim payment will be calculated by the granting authority in the following steps:
Step 1 — Calculation of the total accepted EU contribution
Step 2 — Limit to the interim payment ceiling
Step 1 — Calculation of the total accepted EU contribution
The granting authority will calculate the ‘accepted EU contribution’ for the action for the reporting
period, by first calculating the ‘maximum EU contribution to costs’ (applying the funding rate to the
accepted costs of each beneficiary), taking into account requests for a lower contribution to costs, and
CFS threshold cappings (if any; see Article 24.5) and adding the contributions (accepted unit, flat-rate
or lump sum contributions and financing not linked to costs, if any).
After that, the granting authority will take into account grant reductions from beneficiary termination
(if any). The resulting amount is the ‘total accepted EU contribution’.
Step 2 — Limit to the interim payment ceiling
The resulting amount is then capped to ensure that the total amount of prefinancing and interim
payments (if any) does not exceed the interim payment ceiling set out in the Data Sheet (see Point 4.2).
Interim payments (or parts of them) may be offset (without the beneficiaries’ consent) against amounts
owed by a beneficiary to the granting authority — up to the amount due to that beneficiary.
For grants where the granting authority is the European Commission or an EU executive agency,
offsetting may also be done against amounts owed to other Commission services or executive
agencies.
Payments will not be made if the payment deadline or payments are suspended (see Articles 29 and
30).
22.3.4 Final payment — Final grant amount — Revenues and Profit — Recovery
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The final payment (payment of the balance) reimburses the remaining part of the eligible costs and
contributions claimed for the implementation of the action (if any).
The final payment will be made in accordance with the schedule and modalities set out in the
Data Sheet (see Point 4.2).
Payment is subject to the approval of the final periodic report. Its approval does not imply recognition
of compliance, authenticity, completeness or correctness of its content.
The final grant amount for the action will be calculated in the following steps:
Step 1 — Calculation of the total accepted EU contribution
Step 2 — Limit to the maximum grant amount
Step 3 — Reduction due to the no-profit rule
Step 1 — Calculation of the total accepted EU contribution
The granting authority will first calculate the ‘accepted EU contribution’ for the action for all reporting
periods, by calculating the ‘maximum EU contribution to costs’ (applying the funding rate to the total
accepted costs of each beneficiary), taking into account requests for a lower contribution to costs, CFS
threshold cappings (if any; see Article 24.5) and adding the contributions (accepted unit, flat-rate or
lump sum contributions and financing not linked to costs, if any).
After that, the granting authority will take into account grant reductions (if any). The resulting amount
is the ‘total accepted EU contribution’.
Step 2 — Limit to the maximum grant amount
If the resulting amount is higher than the maximum grant amount set out in Article 5.2, it will be
limited to the latter.
Step 3 — Reduction due to the no-profit rule
If the no-profit rule is provided for in the Data Sheet (see Point 4.2), the grant must not produce a
profit (i.e. surplus of the amount obtained following Step 2 plus the action’s revenues, over the eligible
costs and contributions approved by the granting authority).
‘Revenue’ is all income generated by the action, during its duration (see Article 4), for beneficiaries
that are profit legal entities (— with the exception of income generated by the exploitation of results,
which are not considered as revenues).
If there is a profit, it will be deducted in proportion to the final rate of reimbursement of the eligible
costs approved by the granting authority (as compared to the amount calculated following Steps 1 and
2 minus the contributions).
The balance (final payment) is then calculated by deducting the total amount of prefinancing and
interim payments already made (if any), from the final grant amount:
{final grant amount
minus
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{prefinancing and interim payments made (if any)}}.
If the balance is positive, it will be paid to the coordinator.
The amount retained for the Mutual Insurance Mechanism (see above) will be released and paid to
the coordinator (in accordance with the rules governing the Mechanism).
The final payment (or part of it) may be offset (without the beneficiaries’ consent) against amounts
owed by a beneficiary to the granting authority — up to the amount due to that beneficiary.
For grants where the granting authority is the European Commission or an EU executive agency,
offsetting may also be done against amounts owed to other Commission services or executive
agencies.
Payments will not be made if the payment deadline or payments are suspended (see Articles 29 and
30).
If — despite the release of the Mutual Insurance Mechanism contribution — the balance is negative,
it will be recovered in accordance with the following procedure:
The granting authority will send a pre-information letter to the coordinator:
- formally notifying the intention to recover, the final grant amount, the amount to be recovered
and the reasons why
- requesting a report on the distribution of payments to the beneficiaries within 30 days of
receiving notification and
- requesting observations within 30 days of receiving notification.
If no observations are submitted (or the granting authority decides to pursue recovery despite the
observations it has received) and the coordinator has submitted the report on the distribution of
payments, it will calculate the share of the debt per beneficiary, by:
(a) identifying the beneficiaries for which the amount calculated as follows is negative:
{{{total accepted EU contribution for the beneficiary
divided by
total accepted EU contribution for the action}
multiplied by
final grant amount for the action},
minus
{prefinancing and interim payments received by the beneficiary (if any)} }
and
(b) dividing the debt:
{{amount calculated according to point (a) for the beneficiary concerned
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divided by
the sum of the amounts calculated according to point (a) for all the beneficiaries identified according to
point (a)}
multiplied by
the amount to be recovered}.
and confirm the amount to be recovered from each beneficiary concerned (confirmation letter),
together with debit notes with the terms and date for payment.
The debit notes for beneficiaries will include the amounts calculated for their affiliated entities (if any).
If the coordinator has not submitted the report on the distribution of payments, the granting authority
will recover the full amount from the coordinator (confirmation letter and debit note with the terms
and date for payment).
If payment is not made by the date specified in the debit note, the granting authority will enforce
recovery in accordance with Article 22.4.
22.3.5 Audit implementation after final payment — Revised final grant amount — Recovery
If — after the final payment (in particular, after checks, reviews, audits or investigations; see
Article 25) — the granting authority rejects costs or contributions (see Article 27) or reduces the grant
(see Article 28), it will calculate the revised final grant amount for the beneficiary concerned.
The beneficiary revised final grant amount will be calculated in the following step:
Step 1 — Calculation of the revised total accepted EU contribution
Step 1 — Calculation of the revised total accepted EU contribution
The granting authority will first calculate the ‘revised accepted EU contribution’ for the beneficiary,
by calculating the ‘revised accepted costs’ and ‘revised accepted contributions’.
After that, it will take into account grant reductions (if any). The resulting ‘revised total accepted EU
contribution’ is the beneficiary revised final grant amount.
If the revised final grant amount is lower than the beneficiary’s final grant amount (i.e. its share in the
final grant amount for the action), it will be recovered in accordance with the following procedure:
The beneficiary final grant amount (i.e. share in the final grant amount for the action) is calculated
as follows:
{{total accepted EU contribution for the beneficiary
divided by
total accepted EU contribution for the action}
multiplied by
final grant amount for the action}.
The granting authority will send a pre-information letter to the beneficiary concerned:
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- formally notifying the intention to recover, the amount to be recovered and the reasons why and
- requesting observations within 30 days of receiving notification.
If no observations are submitted (or the granting authority decides to pursue recovery despite the
observations it has received), it will confirm the amount to be recovered (confirmation letter),
together with a debit note with the terms and the date for payment.
Recoveries against affiliated entities (if any) will be handled through their beneficiaries.
If payment is not made by the date specified in the debit note, the granting authority will enforce
recovery in accordance with Article 22.4.
22.4 Enforced recovery
If payment is not made by the date specified in the debit note, the amount due will be recovered:
(a) by offsetting the amount — without the coordinator or beneficiary’s consent — against any
amounts owed to the coordinator or beneficiary by the granting authority.
In exceptional circumstances, to safeguard the EU financial interests, the amount may be offset
before the payment date specified in the debit note.
For grants where the granting authority is the European Commission or an EU executive
agency, debts may also be offset against amounts owed by other Commission services or
executive agencies.
(b) financial guarantee(s): not applicable
(c) joint and several liability of beneficiaries: not applicable
(d) by holding affiliated entities jointly and severally liable (if any, see Data Sheet, Point 4.4)
(e) by taking legal action (see Article 43) or, provided that the granting authority is the European
Commission or an EU executive agency, by adopting an enforceable decision under Article 299
of the Treaty on the Functioning of the EU (TFEU) and Article 100(2) of EU Financial
Regulation 2018/1046.
If the Mutual Insurance Mechanism was called on by the granting authority to intervene, recovery will
be continued in the name of the Mutual Insurance Mechanism. If two debit notes were sent, the second
one (in the name of the Mutual Insurance Mechanism) will be considered to replace the first one (in
the name of the granting authority). Where the MIM intervened, offsetting, enforceable decisions or
any other of the above-mentioned forms of enforced recovery may be used mutatis mutandis.
The amount to be recovered will be increased by late-payment interest at the rate set out in
Article 22.5, from the day following the payment date in the debit note, up to and including the date
the full payment is received.
Partial payments will be first credited against expenses, charges and late-payment interest and then
against the principal.
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Bank charges incurred in the recovery process will be borne by the beneficiary, unless
Directive 2015/236617 applies.
For grants where the granting authority is an EU executive agency, enforced recovery by offsetting or
enforceable decision will be done by the services of the European Commission (see also Article 43).
22.5 Consequences of non-compliance
22.5.1 If the granting authority does not pay within the payment deadlines (see above), the
beneficiaries are entitled to late-payment interest at the rate applied by the European Central Bank
(ECB) for its main refinancing operations in euros (‘reference rate’), plus the rate specified in the
Data Sheet (Point 4.2). The reference rate is the rate in force on the first day of the month in which the
payment deadline expires, as published in the C series of the Official Journal of the European Union.
If the late-payment interest is lower than or equal to EUR 200, it will be paid to the coordinator only
on request submitted within two months of receiving the late payment.
Late-payment interest is not due if all beneficiaries are EU Member States (including regional and
local government authorities or other public bodies acting on behalf of a Member State for the purpose
of this Agreement).
If payments or the payment deadline are suspended (see Articles 29 and 30), payment will not be
considered as late.
Late-payment interest covers the period running from the day following the due date for payment (see
above), up to and including the date of payment.
Late-payment interest is not considered for the purposes of calculating the final grant amount.
22.5.2 If the coordinator breaches any of its obligations under this Article, the grant may be reduced
(see Article 28) and the grant or the coordinator may be terminated (see Article 32).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 23 — GUARANTEES
Not applicable
ARTICLE 24 — CERTIFICATES
24.1 Operational verification report (OVR)
Not applicable
24.2 Certificate on the financial statements (CFS)
If required by the granting authority (see Data Sheet, Point 4.3), the beneficiaries must provide
17 Directive (EU) 2015/2366 of the European Parliament and of the Council of 25 November 2015 on payment
services in the internal market, amending Directives 2002/65/EC, 2009/110/EC and 2013/36/EU and Regulation (EU)
No 1093/2010, and repealing Directive 2007/64/EC (OJ L 337, 23.12.2015, p. 35).
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certificates on their financial statements (CFS), in accordance with the schedule, threshold and
conditions set out in the Data Sheet.
The coordinator must submit them as part of the periodic report (see Article 21).
The certificates must be drawn up using the template published on the Portal, cover the costs declared
on the basis of actual costs and costs according to usual cost accounting practices (if any), and fulfil
the following conditions:
(a) be provided by a qualified approved external auditor which is independent and complies with
Directive 2006/43/EC18 (or for public bodies: by a competent independent public officer)
(b) the verification must be carried out according to the highest professional standards to ensure
that the financial statements comply with the provisions under the Agreement and that the costs
declared are eligible.
The certificates will not affect the granting authority's right to carry out its own checks, reviews or
audits, nor preclude the European Court of Auditors (ECA), the European Public Prosecutor’s Office
(EPPO) or the European Anti-Fraud Office (OLAF) from using their prerogatives for audits and
investigations under the Agreement (see Article 25).
If the costs (or a part of them) were already audited by the granting authority, these costs do not need
to be covered by the certificate and will not be counted for calculating the threshold (if any).
24.3 Certificate on the compliance of usual cost accounting practices (CoMUC)
Not applicable
24.4 Systems and process audit (SPA)
Beneficiaries which:
- use unit, flat rate or lump sum costs or contributions according to documented (i.e. formally
approved and in writing) usual costs accounting practices (if any) or
- have formalised documentation on the systems and processes for calculating their costs
and contributions (i.e. formally approved and in writing), have participated in at least 150
actions under Horizon 2020 or the Euratom Research and Training Programme (2014-2018 or
2019-2020) and participate in at least 3 ongoing actions under Horizon Europe or the Euratom
Research and Training Programme (2021-2025 or 2026-2027)
may apply to the granting authority for a systems and process audit (SPA).
This audit will be carried out as follows:
Step 1 – Application by the beneficiary.
Step 2 – If the application is accepted, the granting authority will carry out the systems and process
18 Directive 2006/43/EC of the European Parliament and of the Council of 17 May 2006 on statutory audits of annual
accounts and consolidated accounts or similar national regulations (OJ L 157, 9.6.2006, p. 87).
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audit, complemented by an audit of transactions (on a sample of the beneficiary’s Horizon
Europe or the Euratom Research and Training Programme financial statements).
Step 3 – The audit result will take the form of a risk assessment classification for the beneficiary:
low, medium or high.
Low-risk beneficiaries will benefit from less (or less in-depth) ex-post audits (see Article 25) and a
higher threshold for submitting certificates on the financial statements (CFS; see Articles 21 and 24.2
and Data Sheet, Point 4.3).
24.5 Consequences of non-compliance
If a beneficiary does not submit a certificate on the financial statements (CFS) or the certificate is
rejected, the accepted EU contribution to costs will be capped to reflect the CFS threshold.
If a beneficiary breaches any of its other obligations under this Article, the granting authority may
apply the measures described in Chapter 5.
ARTICLE 25 — CHECKS, REVIEWS, AUDITS AND INVESTIGATIONS — EXTENSION
OF FINDINGS
25.1 Granting authority checks, reviews and audits
25.1.1 Internal checks
The granting authority may — during the action or afterwards — check the proper implementation of
the action and compliance with the obligations under the Agreement, including assessing costs and
contributions, deliverables and reports.
25.1.2 Project reviews
The granting authority may carry out reviews on the proper implementation of the action and
compliance with the obligations under the Agreement (general project reviews or specific issues
reviews).
Such project reviews may be started during the implementation of the action and until the time-limit
set out in the Data Sheet (see Point 6). They will be formally notified to the coordinator or beneficiary
concerned and will be considered to start on the date of the notification.
If needed, the granting authority may be assisted by independent, outside experts. If it uses outside
experts, the coordinator or beneficiary concerned will be informed and have the right to object on
grounds of commercial confidentiality or conflict of interest.
The coordinator or beneficiary concerned must cooperate diligently and provide — within the deadline
requested — any information and data in addition to deliverables and reports already submitted
(including information on the use of resources). The granting authority may request beneficiaries
to provide such information to it directly. Sensitive information and documents will be treated in
accordance with Article 13.
The coordinator or beneficiary concerned may be requested to participate in meetings, including with
the outside experts.
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For on-the-spot visits, the beneficiary concerned must allow access to sites and premises (including
to the outside experts) and must ensure that information requested is readily available.
Information provided must be accurate, precise and complete and in the format requested, including
electronic format.
On the basis of the review findings, a project review report will be drawn up.
The granting authority will formally notify the project review report to the coordinator or beneficiary
concerned, which has 30 days from receiving notification to make observations.
Project reviews (including project review reports) will be in the language of the Agreement, unless
otherwise agreed with the granting authority (see Data Sheet, Point 4.2).
25.1.3 Audits
The granting authority may carry out audits on the proper implementation of the action and compliance
with the obligations under the Agreement.
Such audits may be started during the implementation of the action and until the time-limit set out in
the Data Sheet (see Point 6). They will be formally notified to the beneficiary concerned and will be
considered to start on the date of the notification.
The granting authority may use its own audit service, delegate audits to a centralised service or use
external audit firms. If it uses an external firm, the beneficiary concerned will be informed and have
the right to object on grounds of commercial confidentiality or conflict of interest.
The beneficiary concerned must cooperate diligently and provide — within the deadline requested —
any information (including complete accounts, individual salary statements or other personal data)
to verify compliance with the Agreement. Sensitive information and documents will be treated in
accordance with Article 13.
For on-the-spot visits, the beneficiary concerned must allow access to sites and premises (including
for the external audit firm) and must ensure that information requested is readily available.
Information provided must be accurate, precise and complete and in the format requested, including
electronic format.
On the basis of the audit findings, a draft audit report will be drawn up.
The auditors will formally notify the draft audit report to the beneficiary concerned, which has 30 days
from receiving notification to make observations (contradictory audit procedure).
The final audit report will take into account observations by the beneficiary concerned and will be
formally notified to them.
Audits (including audit reports) will be in the language of the Agreement, unless otherwise agreed
with the granting authority (see Data Sheet, Point 4.2).
25.2 European Commission checks, reviews and audits in grants of other granting
authorities
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Where the granting authority is not the European Commission, the latter has the same rights of checks,
reviews and audits as the granting authority.
25.3 Access to records for assessing simplified forms of funding
The beneficiaries must give the European Commission access to their statutory records for the periodic
assessment of simplified forms of funding which are used in EU programmes.
25.4 OLAF, EPPO and ECA audits and investigations
The following bodies may also carry out checks, reviews, audits and investigations — during the
action or afterwards:
- the European Anti-Fraud Office (OLAF) under Regulations No 883/201319 and No 2185/9620
- the European Public Prosecutor’s Office (EPPO) under Regulation 2017/1939
- the European Court of Auditors (ECA) under Article 287 of the Treaty on the Functioning of
the EU (TFEU) and Article 257 of EU Financial Regulation 2018/1046.
If requested by these bodies, the beneficiary concerned must provide full, accurate and complete
information in the format requested (including complete accounts, individual salary statements or
other personal data, including in electronic format) and allow access to sites and premises for
on-the-spot visits or inspections — as provided for under these Regulations.
To this end, the beneficiary concerned must keep all relevant information relating to the action, at
least until the time-limit set out in the Data Sheet (Point 6) and, in any case, until any ongoing checks,
reviews, audits, investigations, litigation or other pursuits of claims have been concluded.
25.5 Consequences of checks, reviews, audits and investigations — Extension of results of
reviews, audits or investigations
25.5.1 Consequences of checks, reviews, audits and investigations in this grant
Findings in checks, reviews, audits or investigations carried out in the context of this grant may lead to
rejections (see Article 27), grant reduction (see Article 28) or other measures described in Chapter 5.
Rejections or grant reductions after the final payment will lead to a revised final grant amount (see
Article 22).
Findings in checks, reviews, audits or investigations during the action implementation may lead to a
request for amendment (see Article 39), to change the description of the action set out in Annex 1.
Checks, reviews, audits or investigations that find systemic or recurrent errors, irregularities, fraud
19 Regulation (EU, Euratom) No 883/2013 of the European Parliament and of the Council of 11 September 2013
concerning investigations conducted by the European Anti-Fraud Office (OLAF) and repealing Regulation (EC)
No 1073/1999 of the European Parliament and of the Council and Council Regulation (Euratom) No 1074/1999 (OJ
L 248, 18/09/2013, p. 1).
20 Council Regulation (Euratom, EC) No 2185/96 of 11 November 1996 concerning on-the-spot checks and inspections
carried out by the Commission in order to protect the European Communities' financial interests against fraud and other
irregularities (OJ L 292, 15/11/1996, p. 2).
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or breach of obligations in any EU grant may also lead to consequences in other EU grants awarded
under similar conditions (‘extension to other grants’).
Moreover, findings arising from an OLAF or EPPO investigation may lead to criminal prosecution
under national law.
25.5.2 Extension from other grants
Results of checks, reviews, audits or investigations in other grants may be extended to this grant, if:
(a) the beneficiary concerned is found, in other EU grants awarded under similar conditions, to
have committed systemic or recurrent errors, irregularities, fraud or breach of obligations that
have a material impact on this grant and
(b) those findings are formally notified to the beneficiary concerned — together with the list of
grants affected by the findings — within the time-limit for audits set out in the Data Sheet (see
Point 6).
The granting authority will formally notify the beneficiary concerned of the intention to extend the
findings and the list of grants affected.
If the extension concerns rejections of costs or contributions: the notification will include:
(a) an invitation to submit observations on the list of grants affected by the findings
(b) the request to submit revised financial statements for all grants affected
(c) the correction rate for extrapolation, established on the basis of the systemic or recurrent errors,
to calculate the amounts to be rejected, if the beneficiary concerned:
(i) considers that the submission of revised financial statements is not possible or practicable
or
(ii) does not submit revised financial statements.
If the extension concerns grant reductions: the notification will include:
(a) an invitation to submit observations on the list of grants affected by the findings and
(b) the correction rate for extrapolation, established on the basis of the systemic or recurrent
errors and the principle of proportionality.
The beneficiary concerned has 60 days from receiving notification to submit observations, revised
financial statements or to propose a duly substantiated alternative correction method/rate.
On the basis of this, the granting authority will analyse the impact and decide on the implementation
(i.e. start rejection or grant reduction procedures, either on the basis of the revised financial statements
or the announced/alternative method/rate or a mix of those; see Articles 27 and 28).
25.6 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, costs or contributions insufficiently
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substantiated will be ineligible (see Article 6) and will be rejected (see Article 27), and the grant may
be reduced (see Article 28).
Such breaches may also lead to other measures described in Chapter 5.
ARTICLE 26 — IMPACT EVALUATIONS
26.1 Impact evaluation
The granting authority may carry out impact evaluations of the action, measured against the objectives
and indicators of the EU programme funding the grant.
Such evaluations may be started during implementation of the action and until the time-limit set out
in the Data Sheet (see Point 6). They will be formally notified to the coordinator or beneficiaries and
will be considered to start on the date of the notification.
If needed, the granting authority may be assisted by independent outside experts.
The coordinator or beneficiaries must provide any information relevant to evaluate the impact of the
action, including information in electronic format.
26.2 Consequences of non-compliance
If a beneficiary breaches any of its obligations under this Article, the granting authority may apply
the measures described in Chapter 5.
CHAPTER 5 CONSEQUENCES OF NON-COMPLIANCE
SECTION 1 REJECTIONS AND GRANT REDUCTION
ARTICLE 27 — REJECTION OF COSTS AND CONTRIBUTIONS
27.1 Conditions
The granting authority will — at beneficiary termination, interim payment, final payment or
afterwards — reject any costs or contributions which are ineligible (see Article 6), in particular
following checks, reviews, audits or investigations (see Article 25).
The rejection may also be based on the extension of findings from other grants to this grant (see
Article 25).
Ineligible costs or contributions will be rejected.
27.2 Procedure
If the rejection does not lead to a recovery, the granting authority will formally notify the coordinator
or beneficiary concerned of the rejection, the amounts and the reasons why. The coordinator or
beneficiary concerned may — within 30 days of receiving notification — submit observations if it
disagrees with the rejection (payment review procedure).
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If the rejection leads to a recovery, the granting authority will follow the contradictory procedure with
pre-information letter set out in Article 22.
27.3 Effects
If the granting authority rejects costs or contributions, it will deduct them from the costs or
contributions declared and then calculate the amount due (and, if needed, make a recovery; see
Article 22).
ARTICLE 28 — GRANT REDUCTION
28.1 Conditions
The granting authority may — at beneficiary termination, final payment or afterwards — reduce the
grant for a beneficiary, if:
(a) the beneficiary (or a person having powers of representation, decision-making or control, or
person essential for the award/implementation of the grant) has committed:
(i) substantial errors, irregularities or fraud or
(ii) serious breach of obligations under this Agreement or during its award (including
improper implementation of the action, non-compliance with the call conditions,
submission of false information, failure to provide required information, breach of ethics
or security rules (if applicable), etc.), or
(b) the beneficiary (or a person having powers of representation, decision-making or control, or
person essential for the award/implementation of the grant) has committed — in other EU grants
awarded to it under similar conditions — systemic or recurrent errors, irregularities, fraud or
serious breach of obligations that have a material impact on this grant (see Article 25).
The amount of the reduction will be calculated for each beneficiary concerned and proportionate to the
seriousness and the duration of the errors, irregularities or fraud or breach of obligations, by applying
an individual reduction rate to their accepted EU contribution.
28.2 Procedure
If the grant reduction does not lead to a recovery, the granting authority will formally notify the
coordinator or beneficiary concerned of the reduction, the amount to be reduced and the reasons why.
The coordinator or beneficiary concerned may — within 30 days of receiving notification — submit
observations if it disagrees with the reduction (payment review procedure).
If the grant reduction leads to a recovery, the granting authority will follow the contradictory procedure
with pre-information letter set out in Article 22.
28.3 Effects
If the granting authority reduces the grant, it will deduct the reduction and then calculate the amount
due (and, if needed, make a recovery; see Article 22).
SECTION 2 SUSPENSION AND TERMINATION
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ARTICLE 29 — PAYMENT DEADLINE SUSPENSION
29.1 Conditions
The granting authority may — at any moment — suspend the payment deadline if a payment cannot
be processed because:
(a) the required report (see Article 21) has not been submitted or is not complete or additional
information is needed
(b) there are doubts about the amount to be paid (e.g. ongoing audit extension procedure, queries
about eligibility, need for a grant reduction, etc.) and additional checks, reviews, audits or
investigations are necessary, or
(c) there are other issues affecting the EU financial interests.
29.2 Procedure
The granting authority will formally notify the coordinator of the suspension and the reasons why.
The suspension will take effect the day the notification is sent.
If the conditions for suspending the payment deadline are no longer met, the suspension will be lifted
— and the remaining time to pay (see Data Sheet, Point 4.2) will resume.
If the suspension exceeds two months, the coordinator may request the granting authority to confirm
if the suspension will continue.
If the payment deadline has been suspended due to the non-compliance of the report and the revised
report is not submitted (or was submitted but is also rejected), the granting authority may also terminate
the grant or the participation of the coordinator (see Article 32).
ARTICLE 30 — PAYMENT SUSPENSION
30.1 Conditions
The granting authority may — at any moment — suspend payments, in whole or in part for one or
more beneficiaries, if:
(a) a beneficiary (or a person having powers of representation, decision-making or control, or
person essential for the award/implementation of the grant) has committed or is suspected of
having committed:
(i) substantial errors, irregularities or fraud or
(ii) serious breach of obligations under this Agreement or during its award (including
improper implementation of the action, non-compliance with the call conditions,
submission of false information, failure to provide required information, breach of ethics
or security rules (if applicable), etc.), or
(b) a beneficiary (or a person having powers of representation, decision-making or control, or
person essential for the award/implementation of the grant) has committed — in other EU grants
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awarded to it under similar conditions — systemic or recurrent errors, irregularities, fraud or
serious breach of obligations that have a material impact on this grant.
If payments are suspended for one or more beneficiaries, the granting authority will make partial
payment(s) for the part(s) not suspended. If suspension concerns the final payment, the payment (or
recovery) of the remaining amount after suspension is lifted will be considered to be the payment that
closes the action.
30.2 Procedure
Before suspending payments, the granting authority will send a pre-information letter to the
beneficiary concerned:
- formally notifying the intention to suspend payments and the reasons why and
- requesting observations within 30 days of receiving notification.
If the granting authority does not receive observations or decides to pursue the procedure despite the
observations it has received, it will confirm the suspension (confirmation letter). Otherwise, it will
formally notify that the procedure is discontinued.
At the end of the suspension procedure, the granting authority will also inform the coordinator.
The suspension will take effect the day after the confirmation notification is sent.
If the conditions for resuming payments are met, the suspension will be lifted. The granting authority
will formally notify the beneficiary concerned (and the coordinator) and set the suspension end date.
During the suspension, no prefinancing will be paid to the beneficiaries concerned. For interim
payments, the periodic reports for all reporting periods except the last one (see Article 21) must
not contain any financial statements from the beneficiary concerned (or its affiliated entities). The
coordinator must include them in the next periodic report after the suspension is lifted or — if
suspension is not lifted before the end of the action — in the last periodic report.
ARTICLE 31 — GRANT AGREEMENT SUSPENSION
31.1 Consortium-requested GA suspension
31.1.1 Conditions and procedure
The beneficiaries may request the suspension of the grant or any part of it, if exceptional circumstances
— in particular force majeure (see Article 35) — make implementation impossible or excessively
difficult.
The coordinator must submit a request for amendment (see Article 39), with:
- the reasons why
- the date the suspension takes effect; this date may be before the date of the submission of the
amendment request and
- the expected date of resumption.
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The suspension will take effect on the day specified in the amendment.
Once circumstances allow for implementation to resume, the coordinator must immediately request
another amendment of the Agreement to set the suspension end date, the resumption date (one day
after suspension end date), extend the duration and make other changes necessary to adapt the action
to the new situation (see Article 39) — unless the grant has been terminated (see Article 32). The
suspension will be lifted with effect from the suspension end date set out in the amendment. This date
may be before the date of the submission of the amendment request.
During the suspension, no prefinancing will be paid. Costs incurred or contributions for activities
implemented during grant suspension are not eligible (see Article 6.3).
31.2 EU-initiated GA suspension
31.2.1 Conditions
The granting authority may suspend the grant or any part of it, if:
(a) a beneficiary (or a person having powers of representation, decision-making or control, or
person essential for the award/implementation of the grant) has committed or is suspected of
having committed:
(i) substantial errors, irregularities or fraud or
(ii) serious breach of obligations under this Agreement or during its award (including
improper implementation of the action, non-compliance with the call conditions,
submission of false information, failure to provide required information, breach of ethics
or security rules (if applicable), etc.), or
(b) a beneficiary (or a person having powers of representation, decision-making or control, or
person essential for the award/implementation of the grant) has committed — in other EU grants
awarded to it under similar conditions — systemic or recurrent errors, irregularities, fraud or
serious breach of obligations that have a material impact on this grant
(c) other:
(i) linked action issues: not applicable
(ii) the action has lost its scientific or technological relevance, for EIC Accelerator actions:
the action has lost its economic relevance, for challenge-based EIC Pathfinder actions
and Horizon Europe Missions: the action has lost its relevance as part of the Portfolio
for which it has been initially selected
31.2.2 Procedure
Before suspending the grant, the granting authority will send a pre-information letter to the
coordinator:
- formally notifying the intention to suspend the grant and the reasons why and
- requesting observations within 30 days of receiving notification.
If the granting authority does not receive observations or decides to pursue the procedure despite the
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observations it has received, it will confirm the suspension (confirmation letter). Otherwise, it will
formally notify that the procedure is discontinued.
The suspension will take effect the day after the confirmation notification is sent (or on a later date
specified in the notification).
Once the conditions for resuming implementation of the action are met, the granting authority will
formally notify the coordinator a lifting of suspension letter, in which it will set the suspension
end date and invite the coordinator to request an amendment of the Agreement to set the resumption
date (one day after suspension end date), extend the duration and make other changes necessary to
adapt the action to the new situation (see Article 39) — unless the grant has been terminated (see
Article 32). The suspension will be lifted with effect from the suspension end date set out in the lifting
of suspension letter. This date may be before the date on which the letter is sent.
During the suspension, no prefinancing will be paid. Costs incurred or contributions for activities
implemented during suspension are not eligible (see Article 6.3).
The beneficiaries may not claim damages due to suspension by the granting authority (see Article 33).
Grant suspension does not affect the granting authority’s right to terminate the grant or a beneficiary
(see Article 32) or reduce the grant (see Article 28).
ARTICLE 32 — GRANT AGREEMENT OR BENEFICIARY TERMINATION
32.1 Consortium-requested GA termination
32.1.1 Conditions and procedure
The beneficiaries may request the termination of the grant.
The coordinator must submit a request for amendment (see Article 39), with:
- the reasons why
- the date the consortium ends work on the action (‘end of work date’) and
- the date the termination takes effect (‘termination date’); this date must be after the date of the
submission of the amendment request.
The termination will take effect on the termination date specified in the amendment.
If no reasons are given or if the granting authority considers the reasons do not justify termination,
it may consider the grant terminated improperly.
32.1.2 Effects
The coordinator must — within 60 days from when termination takes effect — submit a periodic
report (for the open reporting period until termination).
The granting authority will calculate the final grant amount and final payment on the basis of the report
submitted and taking into account the costs incurred and contributions for activities implemented
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before the end of work date (see Article 22). Costs relating to contracts due for execution only after
the end of work are not eligible.
If the granting authority does not receive the report within the deadline, only costs and contributions
which are included in an approved periodic report will be taken into account (no costs/contributions
if no periodic report was ever approved).
Improper termination may lead to a grant reduction (see Article 28).
After termination, the beneficiaries’ obligations (in particular Articles 13 (confidentiality and
security), 16 (IPR), 17 (communication, dissemination and visibility), 21 (reporting), 25 (checks,
reviews, audits and investigations), 26 (impact evaluation), 27 (rejections), 28 (grant reduction) and
42 (assignment of claims)) continue to apply.
32.2 Consortium-requested beneficiary termination
32.2.1 Conditions and procedure
The coordinator may request the termination of the participation of one or more beneficiaries, on
request of the beneficiary concerned or on behalf of the other beneficiaries.
The coordinator must submit a request for amendment (see Article 39), with:
- the reasons why
- the opinion of the beneficiary concerned (or proof that this opinion has been requested in
writing)
- the date the beneficiary ends work on the action (‘end of work date’)
- the date the termination takes effect (‘termination date’); this date must be after the date of the
submission of the amendment request.
If the termination concerns the coordinator and is done without its agreement, the amendment request
must be submitted by another beneficiary (acting on behalf of the consortium).
The termination will take effect on the termination date specified in the amendment.
If no information is given or if the granting authority considers that the reasons do not justify
termination, it may consider the beneficiary to have been terminated improperly.
32.2.2 Effects
The coordinator must — within 60 days from when termination takes effect — submit:
(i) a report on the distribution of payments to the beneficiary concerned
(ii) a termination report from the beneficiary concerned, for the open reporting period until
termination, containing an overview of the progress of the work, the financial statement,
the explanation on the use of resources, and, if applicable, the certificate on the financial
statement (CFS; see Articles 21 and 24.2 and Data Sheet, Point 4.3)
(iii) a second request for amendment (see Article 39) with other amendments needed (e.g.
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reallocation of the tasks and the estimated budget of the terminated beneficiary; addition of
a new beneficiary to replace the terminated beneficiary; change of coordinator, etc.).
The granting authority will calculate the amount due to the beneficiary on the basis of the report
submitted and taking into account the costs incurred and contributions for activities implemented
before the end of work date (see Article 22). Costs relating to contracts due for execution only after
the end of work are not eligible.
The information in the termination report must also be included in the periodic report for the next
reporting period (see Article 21).
If the granting authority does not receive the termination report within the deadline, only costs and
contributions which are included in an approved periodic report will be taken into account (no costs/
contributions if no periodic report was ever approved).
If the granting authority does not receive the report on the distribution of payments within the deadline,
it will consider that:
- the coordinator did not distribute any payment to the beneficiary concerned and that
- the beneficiary concerned must not repay any amount to the coordinator.
If the second request for amendment is accepted by the granting authority, the Agreement is amended
to introduce the necessary changes (see Article 39).
If the second request for amendment is rejected by the granting authority (because it calls into question
the decision awarding the grant or breaches the principle of equal treatment of applicants), the grant
may be terminated (see Article 32).
Improper termination may lead to a reduction of the grant (see Article 31) or grant termination (see
Article 32).
After termination, the concerned beneficiary’s obligations (in particular Articles 13 (confidentiality
and security), 16 (IPR), 17 (communication, dissemination and visibility), 21 (reporting), 25 (checks,
reviews, audits and investigations), 26 (impact evaluation), 27 (rejections), 28 (grant reduction) and
42 (assignment of claims)) continue to apply.
32.3 EU-initiated GA or beneficiary termination
32.3.1 Conditions
The granting authority may terminate the grant or the participation of one or more beneficiaries, if:
(a) one or more beneficiaries do not accede to the Agreement (see Article 40)
(b) a change to the action or the legal, financial, technical, organisational or ownership situation
of a beneficiary is likely to substantially affect the implementation of the action or calls into
question the decision to award the grant (including changes linked to one of the exclusion
grounds listed in the declaration of honour)
(c) following termination of one or more beneficiaries, the necessary changes to the Agreement
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(and their impact on the action) would call into question the decision awarding the grant or
breach the principle of equal treatment of applicants
(d) implementation of the action has become impossible or the changes necessary for its
continuation would call into question the decision awarding the grant or breach the principle
of equal treatment of applicants
(e) a beneficiary (or person with unlimited liability for its debts) is subject to bankruptcy
proceedings or similar (including insolvency, winding-up, administration by a liquidator or
court, arrangement with creditors, suspension of business activities, etc.)
(f) a beneficiary (or person with unlimited liability for its debts) is in breach of social security
or tax obligations
(g) a beneficiary (or person having powers of representation, decision-making or control, or person
essential for the award/implementation of the grant) has been found guilty of grave professional
misconduct
(h) a beneficiary (or person having powers of representation, decision-making or control, or person
essential for the award/implementation of the grant) has committed fraud, corruption, or is
involved in a criminal organisation, money laundering, terrorism-related crimes (including
terrorism financing), child labour or human trafficking
(i) a beneficiary (or person having powers of representation, decision-making or control, or person
essential for the award/implementation of the grant) was created under a different jurisdiction
with the intent to circumvent fiscal, social or other legal obligations in the country of origin
(or created another entity with this purpose)
(j) a beneficiary (or person having powers of representation, decision-making or control, or person
essential for the award/implementation of the grant) has committed:
(i) substantial errors, irregularities or fraud or
(ii) serious breach of obligations under this Agreement or during its award (including
improper implementation of the action, non-compliance with the call conditions,
submission of false information, failure to provide required information, breach of ethics
or security rules (if applicable), etc.)
(k) a beneficiary (or person having powers of representation, decision-making or control, or person
essential for the award/implementation of the grant) has committed — in other EU grants
awarded to it under similar conditions — systemic or recurrent errors, irregularities, fraud or
serious breach of obligations that have a material impact on this grant (extension of findings
from other grants to this grant; see Article 25)
(l) despite a specific request by the granting authority, a beneficiary does not request — through
the coordinator — an amendment to the Agreement to end the participation of one of its
affiliated entities or associated partners that is in one of the situations under points (d), (f), (e),
(g), (h), (i) or (j) and to reallocate its tasks, or
(m) other:
(i) linked action issues: not applicable
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(ii) the action has lost its scientific or technological relevance, for EIC Accelerator actions:
the action has lost its economic relevance, for challenge-based EIC Pathfinder actions
and Horizon Europe Missions: the action has lost its relevance as part of the Portfolio
for which it has been initially selected
32.3.2 Procedure
Before terminating the grant or participation of one or more beneficiaries, the granting authority will
send a pre-information letter to the coordinator or beneficiary concerned:
- formally notifying the intention to terminate and the reasons why and
- requesting observations within 30 days of receiving notification.
If the granting authority does not receive observations or decides to pursue the procedure despite
the observations it has received, it will confirm the termination and the date it will take effect
(confirmation letter). Otherwise, it will formally notify that the procedure is discontinued.
For beneficiary terminations, the granting authority will — at the end of the procedure — also inform
the coordinator.
The termination will take effect the day after the confirmation notification is sent (or on a later date
specified in the notification; ‘termination date’).
32.3.3 Effects
(a) for GA termination:
The coordinator must — within 60 days from when termination takes effect — submit a
periodic report (for the last open reporting period until termination).
The granting authority will calculate the final grant amount and final payment on the basis of
the report submitted and taking into account the costs incurred and contributions for activities
implemented before termination takes effect (see Article 22). Costs relating to contracts due
for execution only after termination are not eligible.
If the grant is terminated for breach of the obligation to submit reports, the coordinator may
not submit any report after termination.
If the granting authority does not receive the report within the deadline, only costs and
contributions which are included in an approved periodic report will be taken into account (no
costs/contributions if no periodic report was ever approved).
Termination does not affect the granting authority’s right to reduce the grant (see Article 28)
or to impose administrative sanctions (see Article 34).
The beneficiaries may not claim damages due to termination by the granting authority (see
Article 33).
After termination, the beneficiaries’ obligations (in particular Articles 13 (confidentiality
and security), 16 (IPR), 17 (communication, dissemination and visibility), 21 (reporting), 25
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(checks, reviews, audits and investigations), 26 (impact evaluation), 27 (rejections), 28 (grant
reduction) and 42 (assignment of claims)) continue to apply.
(b) for beneficiary termination:
The coordinator must — within 60 days from when termination takes effect — submit:
(i) a report on the distribution of payments to the beneficiary concerned
(ii) a termination report from the beneficiary concerned, for the open reporting period
until termination, containing an overview of the progress of the work, the financial
statement, the explanation on the use of resources, and, if applicable, the certificate
on the financial statement (CFS; see Articles 21 and 24.2 and Data Sheet, Point 4.3)
(iii) a request for amendment (see Article 39) with any amendments needed (e.g.
reallocation of the tasks and the estimated budget of the terminated beneficiary;
addition of a new beneficiary to replace the terminated beneficiary; change of
coordinator, etc.).
The granting authority will calculate the amount due to the beneficiary on the basis of the
report submitted and taking into account the costs incurred and contributions for activities
implemented before termination takes effect (see Article 22). Costs relating to contracts due
for execution only after termination are not eligible.
The information in the termination report must also be included in the periodic report for the
next reporting period (see Article 21).
If the granting authority does not receive the termination report within the deadline, only costs
and contributions included in an approved periodic report will be taken into account (no costs/
contributions if no periodic report was ever approved).
If the granting authority does not receive the report on the distribution of payments within the
deadline, it will consider that:
- the coordinator did not distribute any payment to the beneficiary concerned and that
- the beneficiary concerned must not repay any amount to the coordinator.
If the request for amendment is accepted by the granting authority, the Agreement is amended
to introduce the necessary changes (see Article 39).
If the request for amendment is rejected by the granting authority (because it calls into question
the decision awarding the grant or breaches the principle of equal treatment of applicants), the
grant may be terminated (see Article 32).
After termination, the concerned beneficiary’s obligations (in particular Articles 13
(confidentiality and security), 16 (IPR), 17 (communication, dissemination and visibility),
21 (reporting), 25 (checks, reviews, audits and investigations), 26 (impact evaluation), 27
(rejections), 28 (grant reduction) and 42 (assignment of claims)) continue to apply.
SECTION 3 OTHER CONSEQUENCES: DAMAGES AND ADMINISTRATIVE
SANCTIONS
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ARTICLE 33 — DAMAGES
33.1 Liability of the granting authority
The granting authority cannot be held liable for any damage caused to the beneficiaries or to third
parties as a consequence of the implementation of the Agreement, including for gross negligence.
The granting authority cannot be held liable for any damage caused by any of the beneficiaries or
other participants involved in the action, as a consequence of the implementation of the Agreement.
33.2 Liability of the beneficiaries
The beneficiaries must compensate the granting authority for any damage it sustains as a result of the
implementation of the action or because the action was not implemented in full compliance with the
Agreement, provided that it was caused by gross negligence or wilful act.
The liability does not extend to indirect or consequential losses or similar damage (such as loss of
profit, loss of revenue or loss of contracts), provided such damage was not caused by wilful act or
by a breach of confidentiality.
ARTICLE 34 — ADMINISTRATIVE SANCTIONS AND OTHER MEASURES
Nothing in this Agreement may be construed as preventing the adoption of administrative sanctions
(i.e. exclusion from EU award procedures and/or financial penalties) or other public law measures,
in addition or as an alternative to the contractual measures provided under this Agreement (see,
for instance, Articles 135 to 145 EU Financial Regulation 2018/1046 and Articles 4 and 7 of
Regulation 2988/9521).
SECTION 4 FORCE MAJEURE
ARTICLE 35 — FORCE MAJEURE
A party prevented by force majeure from fulfilling its obligations under the Agreement cannot be
considered in breach of them.
‘Force majeure’ means any situation or event that:
- prevents either party from fulfilling their obligations under the Agreement,
- was unforeseeable, exceptional situation and beyond the parties’ control,
- was not due to error or negligence on their part (or on the part of other participants involved
in the action), and
- proves to be inevitable in spite of exercising all due diligence.
Any situation constituting force majeure must be formally notified to the other party without delay,
stating the nature, likely duration and foreseeable effects.
21 Council Regulation (EC, Euratom) No 2988/95 of 18 December 1995 on the protection of the European Communities
financial interests (OJ L 312, 23.12.1995, p. 1).
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The parties must immediately take all the necessary steps to limit any damage due to force majeure
and do their best to resume implementation of the action as soon as possible.
CHAPTER 6 FINAL PROVISIONS
ARTICLE 36 — COMMUNICATION BETWEEN THE PARTIES
36.1 Forms and means of communication — Electronic management
EU grants are managed fully electronically through the EU Funding & Tenders Portal (‘Portal’).
All communications must be made electronically through the Portal, in accordance with the Portal
Terms and Conditions and using the forms and templates provided there (except if explicitly instructed
otherwise by the granting authority).
Communications must be made in writing and clearly identify the grant agreement (project number
and acronym).
Communications must be made by persons authorised according to the Portal Terms and Conditions.
For naming the authorised persons, each beneficiary must have designated — before the signature of
this Agreement — a ‘legal entity appointed representative (LEAR)’. The role and tasks of the LEAR
are stipulated in their appointment letter (see Portal Terms and Conditions).
If the electronic exchange system is temporarily unavailable, instructions will be given on the Portal.
36.2 Date of communication
The sending date for communications made through the Portal will be the date and time of sending,
as indicated by the time logs.
The receiving date for communications made through the Portal will be the date and time the
communication is accessed, as indicated by the time logs. Formal notifications that have not been
accessed within 10 days after sending, will be considered to have been accessed (see Portal Terms
and Conditions).
If a communication is exceptionally made on paper (by e-mail or postal service), general principles
apply (i.e. date of sending/receipt). Formal notifications by registered post with proof of delivery will
be considered to have been received either on the delivery date registered by the postal service or the
deadline for collection at the post office.
If the electronic exchange system is temporarily unavailable, the sending party cannot be considered
in breach of its obligation to send a communication within a specified deadline.
36.3 Addresses for communication
The Portal can be accessed via the Europa website.
The address for paper communications to the granting authority (if exceptionally allowed) is the
official mailing address indicated on its website.
For beneficiaries, it is the legal address specified in the Portal Participant Register.
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ARTICLE 37 — INTERPRETATION OF THE AGREEMENT
The provisions in the Data Sheet take precedence over the rest of the Terms and Conditions of the
Agreement.
Annex 5 takes precedence over the Terms and Conditions; the Terms and Conditions take precedence
over the Annexes other than Annex 5.
Annex 2 takes precedence over Annex 1.
ARTICLE 38 — CALCULATION OF PERIODS AND DEADLINES
In accordance with Regulation No 1182/7122, periods expressed in days, months or years are calculated
from the moment the triggering event occurs.
The day during which that event occurs is not considered as falling within the period.
‘Days’ means calendar days, not working days.
ARTICLE 39 — AMENDMENTS
39.1 Conditions
The Agreement may be amended, unless the amendment entails changes to the Agreement which
would call into question the decision awarding the grant or breach the principle of equal treatment
of applicants.
Amendments may be requested by any of the parties.
39.2 Procedure
The party requesting an amendment must submit a request for amendment signed directly in the Portal
Amendment tool.
The coordinator submits and receives requests for amendment on behalf of the beneficiaries (see
Annex 3). If a change of coordinator is requested without its agreement, the submission must be done
by another beneficiary (acting on behalf of the other beneficiaries).
The request for amendment must include:
- the reasons why
- the appropriate supporting documents and
- for a change of coordinator without its agreement: the opinion of the coordinator (or proof that
this opinion has been requested in writing).
The granting authority may request additional information.
22 Regulation (EEC, Euratom) No 1182/71 of the Council of 3 June 1971 determining the rules applicable to periods, dates
and time-limits (OJ L 124, 8/6/1971, p. 1).
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If the party receiving the request agrees, it must sign the amendment in the tool within 45 days of
receiving notification (or any additional information the granting authority has requested). If it does
not agree, it must formally notify its disagreement within the same deadline. The deadline may be
extended, if necessary for the assessment of the request. If no notification is received within the
deadline, the request is considered to have been rejected.
An amendment enters into force on the day of the signature of the receiving party.
An amendment takes effect on the date of entry into force or other date specified in the amendment.
ARTICLE 40 — ACCESSION AND ADDITION OF NEW BENEFICIARIES
40.1 Accession of the beneficiaries mentioned in the Preamble
The beneficiaries which are not coordinator must accede to the grant by signing the accession form
(see Annex 3) directly in the Portal Grant Preparation tool, within 30 days after the entry into force
of the Agreement (see Article 44).
They will assume the rights and obligations under the Agreement with effect from the date of its entry
into force (see Article 44).
If a beneficiary does not accede to the grant within the above deadline, the coordinator must — within
30 days — request an amendment (see Article 39) to terminate the beneficiary and make any changes
necessary to ensure proper implementation of the action. This does not affect the granting authority’s
right to terminate the grant (see Article 32).
40.2 Addition of new beneficiaries
In justified cases, the beneficiaries may request the addition of a new beneficiary.
For this purpose, the coordinator must submit a request for amendment in accordance with Article 39.
It must include an accession form (see Annex 3) signed by the new beneficiary directly in the Portal
Amendment tool.
New beneficiaries will assume the rights and obligations under the Agreement with effect from the
date of their accession specified in the accession form (see Annex 3).
Additions are also possible in mono-beneficiary grants.
ARTICLE 41 — TRANSFER OF THE AGREEMENT
In justified cases, the beneficiary of a mono-beneficiary grant may request the transfer of the grant to
a new beneficiary, provided that this would not call into question the decision awarding the grant or
breach the principle of equal treatment of applicants.
The beneficiary must submit a request for amendment (see Article 39), with
- the reasons why
- the accession form (see Annex 3) signed by the new beneficiary directly in the Portal
Amendment tool and
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- additional supporting documents (if required by the granting authority).
The new beneficiary will assume the rights and obligations under the Agreement with effect from the
date of accession specified in the accession form (see Annex 3).
ARTICLE 42 — ASSIGNMENTS OF CLAIMS FOR PAYMENT AGAINST THE
GRANTING AUTHORITY
The beneficiaries may not assign any of their claims for payment against the granting authority to
any third party, except if expressly approved in writing by the granting authority on the basis of a
reasoned, written request by the coordinator (on behalf of the beneficiary concerned).
If the granting authority has not accepted the assignment or if the terms of it are not observed, the
assignment will have no effect on it.
In no circumstances will an assignment release the beneficiaries from their obligations towards the
granting authority.
ARTICLE 43 — APPLICABLE LAW AND SETTLEMENT OF DISPUTES
43.1 Applicable law
The Agreement is governed by the applicable EU law, supplemented if necessary by the law of
Belgium.
Special rules may apply for beneficiaries which are international organisations (if any; see Data Sheet,
Point 5).
43.2 Dispute settlement
If a dispute concerns the interpretation, application or validity of the Agreement, the parties must bring
action before the EU General Court — or, on appeal, the EU Court of Justice — under Article 272
of the Treaty on the Functioning of the EU (TFEU).
For non-EU beneficiaries (if any), such disputes must be brought before the courts of Brussels,
Belgium — unless an international agreement provides for the enforceability of EU court judgements.
For beneficiaries with arbitration as special dispute settlement forum (if any; see Data Sheet, Point 5),
the dispute will — in the absence of an amicable settlement — be settled in accordance with the Rules
for Arbitration published on the Portal.
If a dispute concerns administrative sanctions, offsetting or an enforceable decision under Article 299
TFEU (see Articles 22 and 34), the beneficiaries must bring action before the General Court — or, on
appeal, the Court of Justice — under Article 263 TFEU.
For grants where the granting authority is an EU executive agency (see Preamble), actions against
offsetting and enforceable decisions must be brought against the European Commission (not against
the granting authority; see also Article 22).
ARTICLE 44 — ENTRY INTO FORCE
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The Agreement will enter into force on the day of signature by the granting authority or the
coordinator, depending on which is later.
SIGNATURES
For the coordinator For the granting authority
[--TGSMark#signature-999997833_75_210--] [--TGSMark#signature-service_75_210--]
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ANNEX 1
Horizon Europe (HORIZON)
Description of the action (DoA)
Part A
Part B
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
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DESCRIPTION OF THE ACTION (PART A)
COVER PAGE
Part A of the Description of the Action (DoA) must be completed directly on the Portal Grant Preparation screens.
PROJECT
Grant Preparation (General Information screen) — Enter the info.
Project number: 101156595
Project name: EUROPEAN RARE DISEASES RESEARCH ALLIANCE
Project acronym: ERDERA
Call: HORIZON-HLTH-2023-DISEASE-07
Topic: HORIZON-HLTH-2023-DISEASE-07-01
Type of action: HORIZON-COFUND
Service: HADEA/A/03
Project starting date: fixed date: 1 September 2024
Project duration: 84 months
TABLE OF CONTENTS
Project summary ......................................................................................................................................................3
List of participants .................................................................................................................................................. 3
List of work packages ...........................................................................................................................................11
Staff effort ............................................................................................................................................................. 46
List of deliverables ................................................................................................................................................68
List of milestones (outputs/outcomes) ................................................................................................................ 109
List of critical risks ............................................................................................................................................. 118
Project reviews .................................................................................................................................................... 124
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PROJECT SUMMARY
Project summary
Grant Preparation (General Information screen) — Provide an overall description of your project (including context and overall
objectives, planned activities and main achievements, and expected results and impacts (on target groups, change procedures,
capacities, innovation etc)). This summary should give readers a clear idea of what your project is about.
Use the project summary from your proposal.
The European Rare Diseases Research Alliance (ERDERA) aims to improve the health and well-being of the 30 million
people living with a rare disease in Europe, by making Europe a world leader in Rare Disease (RD) research and
innovation, to support concrete health benefits to rare disease patients, through better prevention, diagnosis and treatment.
This Partnership will deliver a RD ecosystem that builds on the successes of previous programmes by supporting robust
patient need-led research, developing new diagnostic methods and pathways, spearheading the digital transformational
change connecting the dots between care, patient data and research, while ensuring strong alignment of strategies in RD
research across countries and regions. Structuring goal-oriented public-private collaborations targeted at interventions all
along the R&D value chain will ensure that the journey from knowledge to patient impact is expedited, thereby optimising
EU innovation potential in RD. To support its ambition and missions ERDERA has been designed as a comprehensive and
integrated ecosystem of which structure can be compared to an institute encompassing three main parts: (i) funding, (ii)
internal (in house) Clinical Research Network that implements research activities targeting clinical trial readiness of RDs
and accelerating diagnosis and translation of research discovery into improved patient care, and (iii) related supporting
services (Data, Expertise, Education and Training) as well as an acceleration hub that serve external and internal RD
community, all supported by all-embracing coordination and strategy and foundational (inter)national alignment.
LIST OF PARTICIPANTS
PARTICIPANTS
Grant Preparation (Beneficiaries screen) — Enter the info.
Number Role Short name Legal name Country PIC
1 COO INSERM INSTITUT NATIONAL DE LA SANTE ET DE LA FR 999997833
RECHERCHE MEDICALE
1.1 AE CAD Collecteur Analyseur de Données FR 880793078
2 BEN TEAMIT TEAMIT RESEARCH SL ES 896104237
3 BEN DLR DEUTSCHES ZENTRUM FUR LUFT - UND DE 999981731
RAUMFAHRT EV
4 BEN ANR AGENCE NATIONALE DE LA RECHERCHE FR 998711613
5 BEN FTELE FONDAZIONE TELETHON ETS IT 999448716
6 BEN LMT Lietuvos mokslo taryba LT 997808446
7 BEN ZonMw ZORGONDERZOEK NEDERLAND ZON NL 999544164
8 BEN UT EBERHARD KARLS UNIVERSITAET DE 999991916
TUEBINGEN
9 BEN UTARTU TARTU ULIKOOL EE 999895013
10 BEN CNAG CONSORCIO PARA LA EXPLOTACION ES 882802433
DEL CENTRO NACIONAL DE ANALISIS
GENOMICO
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PARTICIPANTS
Grant Preparation (Beneficiaries screen) — Enter the info.
Number Role Short name Legal name Country PIC
11 BEN SRUMC STICHTING RADBOUD UNIVERSITAIR NL 892057785
MEDISCH CENTRUM
12 BEN TUM TECHNISCHE UNIVERSITAET MUENCHEN DE 999977463
13 BEN UKHD UNIVERSITATSKLINIKUM HEIDELBERG DE 999841081
14 BEN C-PATH CRITICAL PATH INSTITUTE STICHTING NL 887895418
15 BEN VHIR FUNDACIO HOSPITAL UNIVERSITARI VALL ES 999541642
D'HEBRON - INSTITUT DE RECERCA
16 BEN LUMC ACADEMISCH ZIEKENHUIS LEIDEN NL 999990849
17 BEN UTWENTE UNIVERSITEIT TWENTE NL 999900833
18 BEN UPM UNIVERSIDAD POLITECNICA DE MADRID ES 999974844
19 BEN UMCG ACADEMISCH ZIEKENHUIS GRONINGEN NL 999914801
20 BEN AUMC STICHTING AMSTERDAM UMC NL 919322739
21 BEN UM UNIVERSITEIT MAASTRICHT NL 999975911
22 BEN EATRIS EATRIS ERIC NL 941506445
23 BEN FGB FONDAZIONE PER LA RICERCA IT 962478330
FARMACOLOGICA GIANNI BENZI ONLUS
24 BEN APHP ASSISTANCE PUBLIQUE HOPITAUX DE PARIS FR 999645432
25 BEN UHASSELT UNIVERSITEIT HASSELT BE 999874934
26 BEN EURORDIS EURORDIS - RARE DISEASES EUROPE FR 965288323
27 BEN VULSK VIESOJI ISTAIGA VILNIAUS UNIVERSITETO LT 991636530
LIGONINE SANTAROS KLINIKOS
28 BEN UC UNIVERSIDADE DE COIMBRA PT 997826391
29 BEN FFRD FONDATION MALADIES RARES FR 954438485
30 BEN AFM ASS FRANCAISE CONTRE LES MYOPATHIES FR 959828387
31 BEN CCUH BERNU KLINISKA UNIVERSITATES SLIMNICA LV 904374748
VALSTS SIA
32 BEN AICIB AICIB - AGENCIA DE INVESTIGACAO PT 892687606
CLINICA E INOVACAO BIOMEDICA
33 BEN IMGGE INSTITUT ZA MOLEKULARNU GENETIKU I RS 986427921
GENETICKO INZENJERSTVO
34 BEN RDI RARE DISEASES INTERNATIONAL FR 881348694
35 BEN ACU ACIBADEM MEHMET ALI AYDINLAR TR 959704421
UNIVERSITY
36 BEN AIT AIT AUSTRIAN INSTITUTE OF TECHNOLOGY AT 999584128
GMBH
37 BEN AMU UNIVERSITE D'AIX MARSEILLE FR 955518483
38 BEN AOU Meyer IRCCS AZIENDA OSPEDALIERA UNIVERSITARIA IT 998778543
MEYER IRCCS
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PARTICIPANTS
Grant Preparation (Beneficiaries screen) — Enter the info.
Number Role Short name Legal name Country PIC
39 BEN ASU-FC AZIENDA SANITARIA UNIVERSITARIA FRIULI IT 894464355
CENTRALE
40 BEN BIU BAR ILAN UNIVERSITY IL 999886574
41 BEN BMBF BUNDESMINISTERIUM FUER BILDUNG UND DE 999835455
FORSCHUNG
42 BEN CCRI GmbH ST. ANNA KINDERKREBSFORSCHUNG GMBH AT 891384896
43 BEN CENTOGENE CENTOGENE GMBH DE 878333449
44 BEN CHARITE CHARITE - UNIVERSITAETSMEDIZIN BERLIN DE 999992692
45 BEN CHI CHECKIMMUNE GMBH DE 889852781
46 BEN CHU Dijon CENTRE HOSPITALIER REG UNIVERSITAIRE FR 959994451
DIJON
47 BEN CE COPENHAGEN ECONOMICS AS DK 938801309
48 BEN REGIONH REGION HOVEDSTADEN DK 999654744
49 BEN CSO-MOH MINISTRY OF HEALTH IL 999596156
50 BEN CVBF CONSORZIO PER VALUTAZIONI BIOLOGICHE IT 999717018
E FARMACOLOGICHE
51 BEN DDF STICHTING DUCHENNE DATA FOUNDATION NL 899914882
52 BEN ELS ELSEVIER BV NL 999937014
53 BEN Erasmus MC ERASMUS UNIVERSITAIR MEDISCH NL 999988424
CENTRUM ROTTERDAM
54 BEN F.R.S.-FNRS FONDS DE LA RECHERCHE SCIENTIFIQUE- BE 999540381
FNRS
55 BEN FHG FRAUNHOFER GESELLSCHAFT ZUR DE 999984059
FORDERUNG DER ANGEWANDTEN
FORSCHUNG EV
56 BEN FRRB FONDAZIONE REGIONALE PER LA RICERCA IT 929009450
BIOMEDICA
57 BEN ECRIN ECRIN EUROPEAN CLINICAL RESEARCH FR 948646712
INFRASTRUCTURE NETWORK
58 BEN FWF FONDS ZUR FÖRDERUNG DER AT 998735960
WISSENSCHAFTLICHEN FORSCHUNG
59 BEN IFD INNOVATIONSFONDEN DK 939076692
60 BEN FSJD-CERCA FUNDACIO PRIVADA PER A LA RECERCA I LA ES 999565601
DOCENCIA SANT JOAN DE DEU
61 BEN FCT FUNDACAO PARA A CIENCIA E A PT 999543970
TECNOLOGIA
62 BEN MZd MINISTERSTVO ZDRAVOTNICTVI CESKE CZ 924144512
REPUBLIKY
62.1 AE AZV AGENTURA PRO ZDRAVOTNICKY VYZKUM CZ 878890229
CESKE REPUBLIKY AZV CR
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PARTICIPANTS
Grant Preparation (Beneficiaries screen) — Enter the info.
Number Role Short name Legal name Country PIC
63 BEN GNT ASSOCIATION GENETHON FR 998217883
64 BEN GERAD GEORGIAN FOUNDATION FOR GENETIC AND GE 953089312
RARE DISEASES
65 BEN RS REGION STOCKHOLM SE 999522921
66 BEN GUF JOHANN WOLFGANG GOETHE- DE 999978724
UNIVERSITAET FRANKFURT AM MAIN
67 BEN HRB THE HEALTH RESEARCH BOARD IE 999546686
68 BEN İBG IZMIR BIYOTIP VE GENOM MERKEZI TR 906758620
69 BEN Rannis RANNSOKNAMIDSTOD ISLANDS IS 999547268
70 BEN IMAGINE IMAGINE INSTITUT DES MALADIES FR 955276177
GENETIQUES NECKER ENFANTS MALADES
FONDATION
71 BEN IGC PAN INSTYTUT GENETYKI CZLOWIEKA POLSKIEJ PL 982958425
AKADEMII NAUK
72 BEN ISCIII INSTITUTO DE SALUD CARLOS III ES 999507886
73 BEN INSA INSTITUTO NACIONAL DE SAUDE DR. PT 998308190
RICARDO JORGE
74 BEN IOR ISTITUTO ORTOPEDICO RIZZOLI IT 999445709
75 BEN ISS ISTITUTO SUPERIORE DI SANITA IT 999978821
76 BEN IT-MOH MINISTERO DELLA SALUTE IT 999531942
77 BEN KU Leuven KATHOLIEKE UNIVERSITEIT LEUVEN BE 999991334
78 BEN LZP LATVIJAS ZINATNES PADOME LV 999546589
79 BEN MRT MAPI RESEARCH TRUST FR 925695542
80 BEN MUS MEDICAL UNIVERSITY SOFIA BG 999857571
81 BEN MUH FAKULTNI NEMOCNICE V MOTOLE CZ 964458391
82 BEN MUR Ministero dell'università e della ricerca IT 894763406
83 BEN NCBR NARODOWE CENTRUM BADAN I ROZWOJU PL 999519720
84 BEN NKUA ETHNIKO KAI KAPODISTRIAKO EL 999643007
PANEPISTIMIO ATHINON
85 BEN MoH SR MINISTERSTVO ZDRAVOTNICTVA SK 999825173
SLOVENSKEJ REPUBLIKY
86 BEN RDG ENOSI SPANION ASTHENON ELLADOS EL 883276763
87 BEN REGIONSYD REGION SYDDANMARK DK 999602073
88 BEN OPBG OSPEDALE PEDIATRICO BAMBINO GESU IT 998837810
89 BEN OSR OSPEDALE SAN RAFFAELE SRL IT 953176030
90 BEN JSI INSTITUT JOZEF STEFAN SI 999971837
91 BEN RCN NORGES FORSKNINGSRAD NO 999460453
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PARTICIPANTS
Grant Preparation (Beneficiaries screen) — Enter the info.
Number Role Short name Legal name Country PIC
92 BEN FWO FONDS VOOR WETENSCHAPPELIJK BE 997949484
ONDERZOEK-VLAANDEREN
93 BEN REUH RIGAS AUSTRUMU KLINISKA LV 973366483
UNIVERSITATES SLIMNICA SIA
94 BEN RIF IDRYMA EREVNAS KAI KAINOTOMIAS CY 999946035
95 BEN RCSI ROYAL COLLEGE OF SURGEONS IN IRELAND IE 999867368
96 BEN RSU RIGAS STRADINA UNIVERSITATE LV 999843118
97 BEN Sciensano SCIENSANO BE 906160809
98 BEN SPW SERVICE PUBLIC DE WALLONIE BE 999811884
99 BEN SFU SIGMUND FREUD PRIVATUNIVERSITAT WIEN AT 996709824
GMBH
100 BEN ETAg SIHTASUTUS EESTI TEADUSAGENTUUR EE 998483760
101 BEN SAS SLOVENSKA AKADEMIA VIED SK 999530390
102 BEN Sonio SONIO FR 886915427
103 BEN MOSAE SOTSIAALMINISTEERIUM EE 998429731
104 BEN SRC VETENSKAPSRADET - SWEDISH RESEARCH SE 999586165
COUNCIL
105 BEN TEDDY TEDDY - EUROPEAN NETWORK OF IT 910591963
EXCELLENCE FOR PAEDIATRIC CLINICAL
RESEARCH
106 BEN TEKKARE TEKKARE FR 881967069
107 BEN TIF THALASSAEMIA INTERNATIONAL CY 940669626
FEDERATION
108 BEN TUBITAK TURKIYE BILIMSEL VE TEKNOLOJIK TR 999587135
ARASTIRMA KURUMU
109 BEN RT (TuscReg) REGIONE TOSCANA IT 998823842
110 BEN UAB UNIVERSITAT AUTONOMA DE BARCELONA ES 999986484
111 BEN UCD UNIVERSITY COLLEGE DUBLIN, NATIONAL IE 999974359
UNIVERSITY OF IRELAND, DUBLIN
112 BEN UCSC UNIVERSITA CATTOLICA DEL SACRO CUORE IT 999915771
113 BEN UEF ITA-SUOMEN YLIOPISTO FI 991207984
114 BEN UKA UNIVERSITAETSKLINIKUM AACHEN DE 999897632
115 BEN UKLFR UNIVERSITAETSKLINIKUM FREIBURG DE 999881918
116 BEN UNICAMPANIA UNIVERSITA DEGLI STUDI DELLA CAMPANIA IT 999848356
LUIGI VANVITELLI
117 BEN UoC PANEPISTIMIO KRITIS EL 999588978
118 BEN UGENT UNIVERSITEIT GENT BE 999986096
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PARTICIPANTS
Grant Preparation (Beneficiaries screen) — Enter the info.
Number Role Short name Legal name Country PIC
119 BEN UKCL UNIVERZITETNI KLINICNI CENTER SI 999882306
LJUBLJANA
120 BEN WDO STICHTING WORLD DUCHENNE NL 930321860
ORGANIZATION
121 BEN UU UPPSALA UNIVERSITET SE 999985029
122 BEN c4c-S CONECT4CHILDREN STICHTING NL 881618063
123 BEN CAU UNIVERSITE CADI AYYAD MA 998639930
124 BEN CNRS CENTRE NATIONAL DE LA RECHERCHE FR 999997930
SCIENTIFIQUE CNRS
125 BEN CIBER CONSORCIO CENTRO DE INVESTIGACION ES 997154957
BIOMEDICA EN RED M.P.
126 BEN UEFISCDI UNITATEA EXECUTIVA PENTRU FINANTAREA RO 972130024
INVATAMANTULUI SUPERIOR A CERCETARII
DEZVOLTARII SI INOVARII
127 BEN UNIROMA1 UNIVERSITA DEGLI STUDI DI ROMA LA IT 999987745
SAPIENZA
128 BEN UANTWERPEN UNIVERSITEIT ANTWERPEN BE 999902870
129 BEN BNSF BULGARIAN NATIONAL SCIENCE FUND BG 984222335
130 BEN Aalborg UH REGION NORDJYLLAND (NORTH DENMARK DK 997381064
REGION)
131 BEN RDB REDKI BOLESTI BULGARIA BG 880694720
132 BEN BBMRI-ERIC BIOBANKS AND BIOMOLECULAR AT 946597878
RESOURCES RESEARCH INFRASTRUCTURE
CONSORTIUM (BBMRI-ERIC)
133 BEN AarhusUH AARHUS UNIVERSITETSHOSPITAL DK 999643880
134 BEN IABS-EU ASSOCIATION INTERNATIONALE DE FR 934774936
STANDARDISATION BIOLOGIQUE POUR
L'EUROPE(IABS-EU)
135 BEN HRCI HEALTH RESEARCH CHARITIES IRELAND IE 880683274
COMPANY LIMITED BY GUARANTEE
136 BEN LMU LUDWIG-MAXIMILIANS-UNIVERSITAET DE 999978433
MUENCHEN
136.1 AE KUM KLINIKUM DER UNIVERSITAT MUNCHEN DE 995625946
137 BEN MSW MYSCIENCEWORK FR 898132119
138 BEN FNR FONDS NATIONAL DE LA RECHERCHE LU 998597153
139 BEN NKFIH NEMZETI KUTATASI FEJLESZTESI ES HU 999578696
INNOVACIOS HIVATAL
140 BEN PEI BUNDESINSTITUT FUR IMPFSTOFFE UND DE 998217301
BIOMEDIZINISCHE ARZNEIMITTEL
141 BEN PLUS PARIS-LODRON-UNIVERSITAT SALZBURG AT 999868047
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PARTICIPANTS
Grant Preparation (Beneficiaries screen) — Enter the info.
Number Role Short name Legal name Country PIC
142 BEN SU SORBONNE UNIVERSITE FR 909875521
143 BEN UNISI UNIVERSITA DEGLI STUDI DI SIENA IT 999898020
144 BEN Vinnova VERKET FOR INNOVATIONSSYSTEM SE 999618757
145 BEN CRG-CERCA FUNDACIO CENTRE DE REGULACIO ES 999544455
GENOMICA
146 BEN GMS-RS REGION SKANE SE 998165794
147 BEN VIB VIB VZW BE 999651931
148 BEN IPG INSTITUT DE PATHOLOGIE ET DE GENETIQUE BE 878266034
ASBL
149 BEN UO UNIVERSITY OF OTAGO NZ 998331567
150 BEN HSJD HOSPITAL SANT JOAN DE DEU ES 997929890
151 AP AZ ASTRAZENECA AB SE 999941379
152 AP CHEO-RI CHILDREN'S HOSPITAL OF EASTERN CA 907681187
ONTARIO RESEARCH INSTITUTE INC
153 AP CIHR CANADIAN INSTITUTES OF HEALTH CA 960368386
RESEARCH
154 AP DFG DEUTSCHE FORSCHUNGSGEMEINSCHAFT EV DE 999547462
155 AP FDB FUJIFILM DIOSYNTH BIOTECHNOLOGIES UK UK 962770494
LIMITED
156 AP FRQS FONDS DE RECHERCHE DU QUEBEC - SANTE CA 963122410
157 AP HIPRA HIPRA HUMAN HEALTH SL ES 890821326
158 AP LAB HIPRA LABORATORIOS HIPRA SA ES 991274041
159 AP MICYRN MICYRN CA 880745451
160 AP Miltenyi MILTENYI BIOTEC BV & CO KG DE 897602402
161 AP Pfizer PFIZER INC US 887211374
162 AP RCC DEPARTMENT OF HEALTH GOVERNMENT OF AU 960480421
WESTERN AUSTRALIA
163 AP REI REITHERA SRL IT 998129419
164 AP RJF LABORATORIO REIG JOFRE SA ES 951005073
165 AP ROCHE F. HOFFMANN-LA ROCHE AG CH 999601782
166 AP SNSF SCHWEIZERISCHER NATIONALFONDS ZUR CH 999540575
FORDERUNG DER WISSENSCHAFTLICHEN
FORSCHUNG
167 AP UCB UCB BIOPHARMA BE 937666409
168 AP Fraunhofer UK FRAUNHOFER UK RESEARCH LIMITED UK 952487039
169 AP GA UK GENETIC ALLIANCE UK LTD UK 999790932
170 AP UNEW UNIVERSITY OF NEWCASTLE UPON TYNE UK 999985417
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PARTICIPANTS
Grant Preparation (Beneficiaries screen) — Enter the info.
Number Role Short name Legal name Country PIC
171 AP CUH Cambridge University Hospitals NHS Foundation UK 991793961
Trust
172 AP ULEIC UNIVERSITY OF LEICESTER UK 999985514
173 AP QUB-UK THE QUEEN'S UNIVERSITY OF BELFAST UK 999992013
174 AP UCL UNIVERSITY COLLEGE LONDON UK 999975620
175 AP UCAM THE CHANCELLOR MASTERS AND UK 999977172
SCHOLARS OF THE UNIVERSITY OF
CAMBRIDGE
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LIST OF WORK PACKAGES
Work packages
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Work Work Package name Lead Beneficiary Effort Start End Deliverables
Package No (Person- Month Month
Months)
WP1 Coordination and management 1 - INSERM 607.00 1 84 D1.1 – Data Management Plan
D1.2 – Annual Work Plan Y2
D1.3 – Annual Work Plan Y3
D1.4 – Annual Work Plan Y4
D1.5 – Annual Work Plan Y5
D1.6 – Annual Work Plan Y6
D1.7 – Annual Work Plan Y7
D1.8 – Periodic Progress Report 1
D1.9 – Periodic Progress Report 2
D1.10 – Periodic Progress Report 3
D1.11 – Periodic Progress Report 4
D1.12 – Periodic Progress Report 5
D1.13 – RDP SRIA Update
D1.14 – Report on cumulative expenditure
incurred
WP2 Communication and dissemination 2 - TEAMIT 72.00 1 84 D2.1 – Project website
D2.2 – Communication and dissemination
strategy
WP3 Joint Transnational Calls for collaborative research 3 - DLR 132.00 1 84 D3.1 – Joint Transnational Call documents
projects 1
D3.2 – Joint Transnational Call documents
2
D3.3 – Joint Transnational Call documents
3
D3.4 – Joint Transnational Call documents
4
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Work packages
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Work Work Package name Lead Beneficiary Effort Start End Deliverables
Package No (Person- Month Month
Months)
D3.5 – Joint Transnational Call documents
5
D3.6 – Joint Transnational Call documents
6
D3.7 – Joint Transnational Call documents
7
D3.8 – Evaluation Report of the JTCs 1
D3.9 – Evaluation Report of the JTCs 2
D3.10 – Evaluation Report of the JTCs 3
D3.11 – Evaluation Report of the JTCs 4
D3.12 – Evaluation Report of the JTCs 5
D3.13 – Evaluation Report of the JTCs 6
D3.14 – Evaluation Report of the JTCs 7
WP4 Clinical trial call management 5 - FTELE 28.00 1 84 D4.1 – Clinical Trial Call documents
D4.2 – Evaluation Report of the Clinical
Trial Call
WP5 Networking to share knowledge 6 - LMT 22.00 1 84 D5.1 – NSS Call documents
D5.2 – List of funded networks 1
D5.3 – List of funded networks 2
WP6 Diagnostic data availability 8 - UT 614.00 1 84 D6.1 – Roadmap for genomic federated data
analysis approach
D6.2 – Research dataset on returned
diagnostic results 1
D6.3 – Research dataset on returned
diagnostic results 2
WP7 Genome re-analysis research pipeline 10 - CNAG 490.00 1 84 D7.1 – Coordinated re-analysis diagnostic
pipeline
D7.2 – Best practice guidelines for
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Work packages
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Work Work Package name Lead Beneficiary Effort Start End Deliverables
Package No (Person- Month Month
Months)
diagnostic re-analysis & reinterpretation
strategies
WP8 Innovation to shorten time to RD diagnosis 11 - SRUMC 347.00 1 84 D8.1 – Software for long-read pipelines
optimized for RD diagnoses
D8.2 – Software update for integrated
DNARNA pipeline optimized for RD
discoveries 1
D8.3 – Software update for integrated
DNARNA pipeline optimized for RD
discoveries 2
D8.4 – Software for multi-omics pipeline
optimized for RD discoveries 1
D8.5 – Software for multi-omics pipeline
optimized for RD discoveries 2
WP9 Real World Data 13 - UKHD 633.00 1 84 D9.1 – Regulatory grade cohort Inventory
D9.2 – Individual disease progression
models
D9.3 – Drug Development Tools
WP10 Clinical Outcome Assessment 15 - VHIR 336.00 1 84 D10.1 – Disease burden and cost of illness
framework for RDs
D10.2 – Platform for development of
regulatorygrade patient-relevant COAs in
RD
D10.3 – Toolbox on collection of patient
selfreported data
WP11 ATMPs 1 - INSERM 210.00 1 84 D11.1 – Result of the PoC studies for
ATMP technologies
D11.2 – ATMP technology Platform
validated in clinical context
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Work packages
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Work Work Package name Lead Beneficiary Effort Start End Deliverables
Package No (Person- Month Month
Months)
WP12 N-of-few Approach 16 - LUMC 82.00 1 84 D12.1 – Assessment criteria for patient
eligibility to individualised ASO treatment
D12.2 – Toolkit on outcome measures for
N-of- 1
D12.3 – Standardized platform for timely
development of ASO individualized
treatments
WP13 RD Virtual Platform (RD-VP) finding and 1 - INSERM 230.00 1 84 D13.1 – VP specifications and
accessing the data ecosystem documentation 1
D13.2 – VP specifications and
documentation 2
D13.3 – VP specifications and
documentation 3
WP14 Data readiness services 16 - LUMC 168.00 1 84 D14.1 – Data Stewardship Wizard with
the compilation of data models and data
preparation workflows 1
D14.2 – Data Stewardship Wizard with
the compilation of data models and data
preparation workflows 2
D14.3 – Data Stewardship Wizard with
the compilation of data models and data
preparation workflows 3
WP15 Data sharing and analysis services 19 - UMCG 224.00 1 84 D15.1 – Portfolio of ERDERA large scale
analysis services and pipelines
D15.2 – Portfolio of ERDERA federated
analysis methods and services
D15.3 – Technical guidelines for the
implementation of services used in the use
cases on federated analysis
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Work packages
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Work Work Package name Lead Beneficiary Effort Start End Deliverables
Package No (Person- Month Month
Months)
WP16 Knowledge bases and ontologies for RD research 20 - AUMC 250.00 1 84 D16.1 – First standard application of
multidimensional knowledge networks (RD
maps) addressing an RD case
D16.2 – First version of ontologies
(antenatal phenotypes and functional
impacts) integrated with ORDO
D16.3 – Treatabolome demonstrator
D16.4 – Knowledge bases and ontologies
for PROM/PCOM, disabilities and
Treatabolome
WP17 Mentoring and consultancy 22 - EATRIS 38.00 1 84 D17.1 – Recommendations to funders
on addressing translatability of projects
through funding opportunities
D17.2 – Result of feasibility study for
consultancy-based expertise services
D17.3 – Final report of the mentoring
services activity
WP18 Regulatory support service 23 - FGB 88.00 1 84 D18.1 – Set of regulatory recommendations
for CRNs
D18.2 – Set of Regulatory support tools
for preclinical development to facilitate
regulatory filings and convergence for RD
D18.3 – Roadmap for physical and written
standards for quality control of ATMPs
D18.4 – Summary report of ERDERA
Qualification applications with regulatory
Authorities
WP19 Methodological support 24 - APHP 158.00 1 84 D19.1 – First knowledge transfer of
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Work packages
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Work Work Package name Lead Beneficiary Effort Start End Deliverables
Package No (Person- Month Month
Months)
protocols & tools to CRN and selected JTC
projects
D19.2 – Final knowledge transfer of
protocols & tools to CRN and selected JTC
projects
D19.3 – First protocol & tools for
methodological upscaling of RD research
projects
D19.4 – Final protocol & tools for
methodological upscaling of RD research
projects
WP20 Education and Training on RD Research 26 - EURORDIS 318.00 1 84 D20.1 – Report on the identification and
fulfilment of RD education and training
needs
D20.2 – Impact assessment of ERDERA
education and training programme
WP21 Technology accelerator 28 - UC 563.00 1 60 D21.1 – Base protocols for research grade
rAAVs production
D21.2 – Computational tools for of
LNPs, EVs and biohybrids formulation
development
D21.3 – gRNAs for effective and safe gene
editing
D21.4 – Dataset of Gene therapy
Immunogenicity assessment on humanized
mouse model
D21.5 – Multiomics single cell analysis
and bioinformatic pipeline fit-for-purpose
qualified to characterize immune response
to ATMPs
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Work packages
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Work Work Package name Lead Beneficiary Effort Start End Deliverables
Package No (Person- Month Month
Months)
D21.6 – Report on standard regulatory
quality control parameters of mRNA
formulations
D21.7 – Regulatory compliant
recommendations for rAAV analytics
WP22 Public-Private Collaboration accelerator 29 - FFRD 125.00 1 84 D22.1 – Accelerator Hub inclusion criteria
for research projects
D22.2 – Impact analysis of Accelerator hub
outputs 1
D22.3 – Impact analysis of Accelerator hub
outputs 2
WP23 NMGs promotion and national alignment 1 - INSERM 330.00 1 84 D23.1 – Best practice guidelines for
creation and promotion of NMGs
D23.2 – First report on the impact of NMGs
D23.3 – Second report on the impact of
NMGs
D23.4 – Recommendations on the NMG
sustainability
WP24 Fostering engagement of underrepresented 32 - AICIB 135.00 1 84 D24.1 – Mapping of UCs specific needs and
countries in ERDERA expectations 1
D24.2 – Mapping of UCs specific needs and
expectations 2
D24.3 – Focused guidelines for actions at
the National level 1
D24.4 – Focused guidelines for actions at
the National level 2
D24.5 – Guidelines to increase UCs
integration in ERDERA (including in
funding activities) 1
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Work packages
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Work Work Package name Lead Beneficiary Effort Start End Deliverables
Package No (Person- Month Month
Months)
D24.6 – Guidelines to increase UCs
integration in ERDERA (including in
funding activities) 2
D24.7 – Guidelines to increase UCs
integration in ERDERA (including in
funding activities) 3
WP25 ERDERA Global Collaborations 7 - ZonMw 155.00 1 84 D25.1 – White paper on ERNs Living Lab 1
D25.2 – White paper on ERNs Living Lab 2
D25.3 – Sustainability Plan for established
strategic alliances and partnerships
D25.4 – Publication on the International
CRNs
WP26 Ethics requirements 1 - INSERM 0.00 1 84 D26.1 – OEI - Requirement No. 1
D26.2 – OEI - Requirement No. 2
D26.3 – OEI - Requirement No. 3
D26.4 – OEI - Requirement No. 4
D26.5 – OEI - Requirement No. 5
D26.6 – OEI - Requirement No. 6
D26.7 – OEI - Requirement No. 7
D26.8 – OEI - Requirement No. 8
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Work package WP1 – Coordination and management
Work Package Number WP1 Lead Beneficiary 1 - INSERM
Work Package Name Coordination and management
Start Month 1 End Month 84
Objectives
To provide the necessary support for efficient management and coordination of the ERDERA.
Description
T1.1. Day-to-Day management and coordination (M1-M84) TL: INSERM_IT-GGB; Contributors: TEAMIT.
Day-to-day management and coordination of the project will be ensured by the coordination team based at INSERM,
providing support, and overseeing various aspects, including communication, risk management, and reporting, drawing
from the experience of the well-structured EJP RD management office. T1.1. will focus on the planning and reporting
related to the contractual obligations included in the Grant Agreement, with the development of the Annual Work
Plans and Annual Progress report, including setting up reporting mechanisms, supporting, and training Beneficiaries
on reporting procedures and coordinating the production of reports. Risk management is also a priority, identifying,
assessing, and following up on threats and opportunities likely to affect the project performance. Additionally, ERDERA
will develop a sustainable Data Management Plan ensuring data accountability, reliability, and compliance with IP,
ethical, FAIR, and GDPR regulations. It will cover aspects such as data handling, types of data, methodology, sharing
and access, curation, preservation, ethical and legal compliance. T1.1. aligns with GO1-3; SO5; OO3,5.
T1.2. Governance & strategy (M1-M84) TL: INSERM_IT-GGB; Contributors: TEAMIT, EURORDIS, GA UK*,
HRCI, AFM, WDO, RDI. T1.2. aims to establish a governance and a strategy framework for the partnership. The
Coordination team (INSERM) will assist all governance and advisory bodies by providing the necessary tools (e.g.,
secured space for exchange and document storage, voting system), documents (required analyses, working documents,
relevant drafts) and prepare the agendas. Additionally, public consultations will be organized, and the Strategic Research
and Innovation Agenda (SRIA) will be updated through stakeholder engagement, environmental scanning, including
progress and possible synergies with the EU Cancer Mission and the EU Beating Cancer Plan, and SWOT analysis.
Patient and Public Involvement & Engagement (PPIE) will be embedded throughout ERDERA, with a core PPIE group
guiding engagement practices and ensuring patients' needs are prioritized. T1.2. aligns with GO1-3; SO5; OO3,5.
T1.3. Monitoring of the Partnership activities (M1-M84) TL: TEKKARE, CVBF; Contributors: INSERM_ITGGB,
ELS,,MSW, CSO-MOH, ANR, FFRD, DLR, ISCIII, ZonMw, LMT, TEAMIT. Monitoring of ERDERA's activities
and effectiveness is a key element of T1.3., guaranteed by a multi-level approach, including tracking specific Key
Performance Indicators (KPIs), assessing performance at various levels, and collecting data to support decision-
making and sustainability planning. This task will also consider criteria on ERDERA Results exploitability by non-rare
conditions; application of these criteria to funded research activities will be considered in the funding opportunities, as
well as criteria for under-represented countries involvement (widening). ST1.3.1. aims to leverage existing infrastructure
and APIs to create a cost-effective, efficient software solution for data collection and monitoring that will constitute
a comprehensive monitoring system for the Partnership's needs. ST1.3.2. is about the monitoring of the Partnership's
activities across multiple levels: Level 1 - ERDERA as a whole; Level 2 - WPs performance; Level 3 - monitoring of
funded projects; Level 4 - governance and strategy. T1.3. aligns with GO1-3; SO5; OO3,5.
T1.4. Sustainability strategy (M1-M84) TL: CE; Contributors: INSERM_IT-GGB, TEAMIT. T1.4. is focused on
ensuring both the short-term and the long-term vision and viability of the ERDERA through a continuous monitoring
and support for IPR and results requiring legal assistance to ensure long-term sustainability; and the development of
a plan and procedures for transitioning from a partnership to establishing a self-sustaining institute with its own legal
status. It involves managing IP, identifying exploitable results, and preserving consortium interests through a Consortium
Agreement. Additionally, it encompasses long-term sustainability planning, emphasizing the value of collective services
and data-driven decision-making. The strategy includes defining the vision, mapping business models, and proposing
a suitable legal framework while considering costs, financing, and income generation potential, ensuring the Institute's
sustained growth within the RD ecosystem. In building the sustainability strategy, the first grant instalment for three
years and the output of this period will allow for an in-depth exploration of other sustainability strategies, beyond the
institute (for ERDERA as a whole), including sustainability options of the different outputs, fostering ownership of the
results by the contributing organisations and the Member States. ERDERA accelerator Hub will also facilitate contacts
with potential investors. T1.4. aligns with GO1-3; SO5; OO3,5.
T1.5. Ethics compliance (M1-M84) TL: FGB; Contributors: INSERM_IT-GGB. To guarantee and support ethics
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compliance of all project activities, an internal Ethics Advisory Group (EAG) will be set up and composed of ethics
experts delegated by beneficiaries. Support will be provided on ethics issues/concerns raised during the implementation
of the project and its research activities. This activity will also include the ethics assessment and/or follow-up of funded
projects. Different ethics aspects will be addressed according to the Horizon Europe ethics guidance including but not
limited to animal welfare, research with humans, data processing activities, involvement of children, AI methods, etc.
An Independent Ethics Advisor (IEA) will be appointed to monitor adherence to European ethical and legal frameworks,
offering guidance on various aspects, including Data Management Plan. This comprehensive task ensures that ethical
standards and compliance are upheld throughout the partnership's lifecycle. T1.5. aligns with GO1-3; SO5; OO3,5.
Work package WP2 – Communication and dissemination
Work Package Number WP2 Lead Beneficiary 2 - TEAMIT
Work Package Name Communication and dissemination
Start Month 1 End Month 84
Objectives
To pave the way for future sustainability of results and outcomes by ensuring broad visibility and understanding that
lead to acceptance and uptake, thus, maximising the impact of ERDERA.
Specific objectives:
(1) Raise awareness about ERDERA vision and mission and continue the process initiated by EJPRD of positioning this
ambitious programme as a pivotal actor to advance RD research and build the RD ecosystem in Europe and beyond;
(2) Communicate progress, promote resources and services, and disseminate results to build ERDERA’s reputation as
an enabler of innovative, standardised, streamlined, and collaborative transnational RD research;
(3) In collaboration with all work streams and partners’ comms representatives, maximise outreach and contribute to
foster engagement, knowledge exchange, community building, use of services and uptake of results; and
(4) Support all WPs in their communication needs, facilitating consistency and alignment with the overall
communication strategy, plans, and materials.
Description
T2.1. Communication and dissemination strategy (M1-M84). TL: TEAMIT, INSERM_IT-GGB. T2.1. will design a
communication (C) and dissemination (D) strategy for ERDERA by M6, tailored to specific audience groups’ needs and
preferences. This strategy will observe Open Science principles and support and enhance ERDERA overall objectives. A
comprehensive audience analysis, initially informed by representatives of all work streams and partners’ communication
experts, which will constitute the backbone of the C&D strategy. This will be led by the senior communications manager
and will include: (1) SWOT analysis that incorporates learnings, achievements, and resources from EJPRD; (2) clear
C&D objectives and a set of key messages (generic and specific for each audience group); (3) mapping of audiences,
matched with appropriate communication channels and tools (comms. matrix); (4) KPIs to feed into T1.3 for regular
evaluation of C&D strategy performance; and (5) explicit roles and responsibilities. T2.1. aligns with GO:3; SO:3,5;
OO:3,5.
T2.2. C&D operational plans (M6-M84). TL: TEAMIT, INSERM_IT-GGB. The C&D strategy will be implemented
through annual work plans designed by T6.2 with the concurrence of WPLs and based on the analysis of the performance
evaluation conducted in WP1. These will include SMART objectives, operational pillars, or a pre-emptive calendar of
activities, which are audience specific. An editorial plan, led by a scientific writer, will be developed that constructs
and supports a coherent ERDERA narrative to drive forward cutting edge ERDERA research, using case studies,
personal testimonies, etc. T2.2. will be responsible for the implementation, coordination with partnering organisations
and monitoring of annual plans and will collect quarterly KPIs for subsequent evaluation. Finally, specific tactical plans
for singled-out tasks will be developed (i.e., coordinated promotion of joint calls) as described in T2.3. A communications
officer, with expertise on digital channels, will support the successful delivery of planned activities. T2.2. aligns with
GO:3; SO:3; OO:3,5.
T2.3. Synergies with work streams and communication tools (M1-M84) TL: TEAMIT. Contributors: INSERM_IT-
GGB, EURORDIS, WDO, FFRD, TEDDY. T2.3. will leverage channels, tools, and resources generated by EJP
RD to develop ERDERA branding, including communication platforms and materials (website, newsletter, videos,
infographics, factsheets, social media assets, etc) to support ERDERA in all communication and dissemination needs.
This transversal WP will synergise with all work streams, and will specifically play an active role in: (1) coordinated
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promotion of all funding calls (joint translational, Clinical Trials (CTs) and knowledge sharing), including featuring
the progress being made in each funded project and disseminating key results; (2) increase awareness of ERDERA
assets and services (data services hub/virtual platform, acceleration hub, knowledge hub, CRNs, training, mentoring);
(3) contribute to promote related activities, present case studies and disseminate results; and (4) support outreach and
inter(national) capacity alignment activities that includes IRDiRC
communications strategy. T2.3. aligns with GO:3; SO:2,3,5; OO:3-5.
Work package WP3 – Joint Transnational Calls for collaborative research projects
Work Package Number WP3 Lead Beneficiary 3 - DLR
Work Package Name Joint Transnational Calls for collaborative research projects
Start Month 1 End Month 84
Objectives
Implementation of seven joint transnational EC co-funded calls through the following tasks: (1) Topics selection and
definition of eligibility criteria; (2) JTCs call implementation; and (3) Patient engagement.
Description
T3.1. Call topic selection for JTCs and Clinical Trial (CT) Calls (M1-M84) TL: ANR, DLR, ISCIII, FFRD, FTELE;
Contributors: ZonMw, WDO, EURORDIS, all participating funding agencies (BMBF, BNSF, CIHR, CSO-MOH,
DFG*, ETAg, F.R.S.-FNRS, FCT, FNR, FRQS, FRRB, FWF, FWO, HRB, IFD, IT-MOH, LMT, LZP, MOSAE, MUR,
MZd, NCBR, NKFIH, Rannis, RCN, RIF, RT (TuscReg), SAS, SNSF, SPW, SRC, TUBITAK, UEFISCDI, Vinnova).
Identification of topics for the JTCs and CTs calls will be centralised under T3.1. and will include multi-stakeholder input
from the RD community inside and outside ERDERA, as well as IRDiRC, and lessons learned from previous E-Rare
and EJP RD calls. It is envisioned to formulate a multi-annual call topic strategy with broader themes in consultation
with the ERDERA MAB. To maximize synergies, it is expected that the topics for the first three calls will be in line
with the CRN themes diagnosis, therapy development, and improved understanding of clinical outcomes. Themes in
years 4-7 will take advantage of ATMP technology advancement knowledge derived from WP11 and WP21 as well as
facilitate early career researchers and human and social sciences research among other possible themes which will be
closely linked to the developments in the CRNs and accelerator hub. To avoid
conflicts of interest, a strict firewall between the parties deciding on call topics and partnership beneficiaries will be
established. T3.1. aligns with GO:1-3; SO:1-5; OO:1-5.
T3.2. JTC implementation (M1-M84) TL: DLR, ANR, FFRD, ISCIII; Contributors: all participating funding agencies
(BMBF, BNSF, CIHR, CSO-MOH, DFG*, ETAg, F.R.S.-FNRS, FCT, FNR, FRQS, FRRB, FTELE, FWF, FWO, HRB,
IFD, IT-MOH, LMT, LZP, MOSAE, MUR, MZd, NCBR, NKFIH, Rannis, RCN, RIF, RT (TuscReg), SAS, SNSF, SPW,
SRC, TUBITAK, UEFISCDI, Vinnova, ZonMW). T3.2. aligns with GO:1-3; SO:1-5; OO:1-5.
ST3.2.1. Preparation of the joint transnational calls and establishment of the joint call secretariat: The TL will be
responsible for facilitating the definition of eligibility criteria as well as drafting and finalizing all necessary documents
including Memorandum of Understanding, Call text, Governance, and evaluation procedures, Guidelines for applicants,
Proposal templates. In addition, ST3.2.1. will set up the JCS which will act as central support to the applicants regarding
all aspects of proposal drafting and submission. The call for proposals will be published on all relevant channels. The
call will be opened for the submission of proposals for at least 60 days. Shortly after publication, a webinar will be held
to inform applicants of the call specifics.
ST3.2.2. Scientific evaluation of the joint transnational calls: The evaluation will be implemented in a two-step procedure
according to the Horizon Europe rules. In the first step, applicants are invited to submit pre-proposals. The eligible
applications will first undergo national eligibility check and then be submitted to the transnational peer review Scientific
Evaluation Committee (SEC) composed of independent expert scientists chosen for their scientific, technical, patient
and disease-specific expertise. The evaluation of proposals will be aligned on the scoring system and criteria of Horizon
Europe. The SEC will select the most promising applications for submission of a full proposal. The full proposal step will
be used to facilitate inclusion of additional partners from underrepresented countries through a voluntary widening step.
Applicants will be able to receive advice on ethical, regulatory, innovation, translational, and data management aspects
from ERDERA services and can modify their proposals accordingly. The submitted full proposals will be reviewed by
three members of the previously established SEC. These will be complemented by patient experts and methodological
experts. The SEC will agree on a final ranking list of excellent proposals recommended for funding. In addition, an
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independent expert will be invited as official observer to the second SEC meeting. The assessment of the observer will
be provided in a report to the European Commission.
ST3.2.3. Ethics evaluation of projects recommended for funding: An ethics evaluation of the projects selected for funding
will be done by independent ethics evaluators following Horizon Europe standards. Only projects that pass the ethics
evaluation will be funded. ST3.2.4. Funding decision and kick-off: The Call Steering Committee of participating funders
(CSC) will take its final funding decision based strictly on the scientific recommendation of the SEC (ranking list).
Each eligible applicant will be funded by the organization of the country/region from which the applicants have applied
and according to the national/regional administrative regulations (virtual common pot model). The applicants will be
informed about the final funding decision and the national negotiations will commence. An online kick-off meeting will
be held for the selected projects.
ST3.2.5. Quality management of call procedures: The practicability of administrative and operational mechanisms used
for implementation of calls, peer review, funding of projects, and scientific follow-up will be monitored by the JCS with
feedback from all participating stakeholders. The lessons learned will feed the call design and implementation of the
next joint calls.
T3.3. Engagement of patients in research project funding (M1-M84) TL: EURORDIS, FFRD, DLR; Contributors: ANR,
ISCIII, ZonMw, RT (TuscReg), WDO, AFM. The working group will focus on improving patient involvement and
engagement on all levels of the call process (e.g. call topic definition/eligibility issues for PAOs participation and/or
funding/dissemination/evaluation/PPIE-oriented monitoring indicators), but also engagement in research project design.
It will facilitate call dissemination and promotion to PAOs. T3.3. aligns with GO:1-3; SO:1,3-5; OO:1,4,5.
Work package WP4 – Clinical trial call management
Work Package Number WP4 Lead Beneficiary 5 - FTELE
Work Package Name Clinical trial call management
Start Month 1 End Month 84
Objectives
(1) Develop the call framework; (2) Open the call and select CTs for funding; (3) Secure proper project implementation,
milestones monitoring and financial management; and (4) Leverage the work of the CRN both for the design and the
implementation of the studies that will therefore become “demonstrators” of the potential of the CRN itself.
Description
T4.1. Develop the call framework (M1-M18) TL: FTELE, DLR, WDO, QUB-UK*; Contributors: HRB. The partners
will define and finalize the text of the call by M18, including timing for proposal submission. The call topic selection
and design will be in line with the processes described and in close collaboration with WP3, T3.1. Specifically, this will
be an open competitive call, open to researchers, clinical centres, and patient organizations from all Horizon Europe
eligible countries. The call text will clarify the eligibility criteria. A minimum of recruiting centres and/or countries will
be specified, and the number and role of each centre and partner will need to be defined in the application. The potential
roles for companies will be specified and guidelines about their nvolvement (at each stage of the call and of the project)
will be provided. The design of the call will consider the model under development by ERA4Health to demonstrate the
feasibility of the funding model. The MAB or specific Thematic Groups that could stem from it will be involved in the
discussion. The goal is to develop a funding model that overcome bottlenecks encountered under JTC2016 E-Rare-3
and fund multinational RD CTs.
In addition, ERDERA will contribute to the Accelerating Clinical Trials in the EU (ACT EU) initiative via ECRIN
to integrate their recommendations for multinational CTs in the call text of the ERDERA CTs’ calls. The final call
documents will be presented to the Board of Funders for their approval. T4.1. aligns with GO:2; SO:3; OO:1,5.
T4.2. Open the call and select trials for funding (M19-M43) TL: FTELE; Contributor: WDO. FTELE will open the first
call by M19. The second call will be open by M31. The evaluation process for the applications will include POs patient
experts or CABs when available, clinical experts, and experts in trial design and methodology who will provide reports
to the group responsible for making the decision. Applicants will be given an opportunity to respond to the peer review
after the full proposal evaluation. This will ensure the selection of clinical trial proposals which would adhere to the call
requirements, fulfil the eligibility criteria, highest scientific merit, and has potentially a meaningful impact for patients.
As a National Research Funding Organisations (RFOs), Fondazione Telethon will establish a call secretariat, and it will
manage all the activities related to this task, as well as liaise with other partners if required. Special attention will be
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given to patient-centricity and patient involvement in the proposal and during the project's implementation. Conflict of
interest (COI) will be managed for all evaluators. T4.2. aligns with GO:2; SO:3,4; OO:1,4,5.
T4.3. Project implementation, project monitoring, and financial management (M38-M84) TL: FTELE; Contributors: IT-
MOH, CSO-MOH, WDO. T4.3. will ensure a smooth implementation of the funded trials and follow the achievement
of project specific milestones for each funded clinical trial, while it will promote meaningful and impactful research.
For each project, funding will be paid in instalments, which will be triggered by the achievement of specific milestones.
This is therefore a crucial task to ensure an efficient use of resources. T4.3. aligns with GO:2; SO:1; OO:1,5. This WP
comprises two Subtasks: ST 4.3.1. Project implementation and reporting on milestone achievements. ST 4.3.2. Financial
management with UPPMD as contributor.
Work package WP5 – Networking to share knowledge
Work Package Number WP5 Lead Beneficiary 6 - LMT
Work Package Name Networking to share knowledge
Start Month 1 End Month 84
Objectives
To share knowledge on research among relevant transnational European and transcontinental RD stakeholders including
clinicians, basic researchers, patients’ organisations/RD support groups, as well as PhD students, post-docs and early
career researchers, and industry. To implement the networking support scheme for building new European and global
research networks or expanding existing research networks on RDs and rare cancers to support patient-centred research,
and to include stakeholders of widening countries and young
researchers. Realisation of this scheme will address OO5 and will contribute to OO1, OO4, SO3, SO4, SO5, GO1,
GO2 and GO3, ensuring knowledge flow and bringing together teams for patient-oriented R&I. Therefore, WP5 will
synergize with R&I funding work stream of ERDERA (WP3 and WP4) and could facilitate collaborations (including
cross-sectoral) at national, European, and global levels (WP23, WP24 and WP25).
Description
T5.1. Preparation and launching of the funding scheme (M1-M9) TL: LMT, ZonMw; Contributors: FFRD, ANR,
EURORDIS, WDO, GA UK*, CSO-MOH, FGB. A call secretariat will be set up and a working group will be formed
to prepare call documents (e.g. call text, application template, documents for evaluation procedures and documents for
funding of selected networks). The task includes the call launch, building a pool of scientific evaluators (clinicians,
researchers, PAO representatives/patients), and preparation of webinar(s) for
potential applicants. When the scheme is launched, the funding opportunity will be continuously open with 2 collection
dates per year. T5.1. aligns with GO:1-3; SO:3-5; OO:1,4,5.
T5.2. Evaluation of the selected proposals after each collection date (M9-M84) TL: LMT, ZonMw; Contributor: FGB.
T5.2. will be executed by the call secretariat and comprises of subsequently the following activities: (1) Eligibility check
of received applications; (2) Scientific evaluation by the pool of evaluators including patient experts, using the EC
Horizon Europe scientific evaluation criteria; (3) Ethics assessment process: This will be performed in the framework
of Task 1.6 for the applications that are positively evaluated for
funding by the scientific evaluators. The process will consist of evaluating the ethics dimension of the projects and
releasing specific ethics requirements to be fulfilled and ethics recommendations to be implemented for each proposal.
Attention will be paid to the GDPR compliance for Third Countries (non-EU Member States or EEA countries) on
sensitive personal health data. The ethics assessment process will be performed for each round of the call; and (4)
Funding decision by the s based on the results of the scientific evaluation and the ethics assessments. T5.2. aligns with
GO:1-3; SO:3-5; OO:1,4,5.
T5.3 Quality management (M9-M84) TL: LMT, ZonMw; Contributors: FFRD, ANR, EURORDIS, WDO, GA UK*,
CSO-MOH, FGB. T5.3 aims to spotlight the practicability of administrative and operational mechanisms used for
implementation of the scheme trying to balance the benefit-to-work ratio and with support of WP coordination/
monitoring perform the networks follow-up and monitoring. T5.3 will be performed by the call secretariat with support
and feedback from the working group (T5.1. leaders, contributors including the partners responsible for overall ERDERA
ethics compliance and scientific monitoring (WP1). The quality of the implementation of the funding scheme will be
periodically assessed. Results of this quality management process will be incorporated in the lessons learned reports.
The outcomes from each evaluation round will feed the implementation of next collection dates to facilitate the evolution
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of robust and functional administrative and operational practices and ensure a continuous process improvement. T5.3.
aligns with GO:1-3; SO:3-5; OO:1,4,5.
Work package WP6 – Diagnostic data availability
Work Package Number WP6 Lead Beneficiary 8 - UT
Work Package Name Diagnostic data availability
Start Month 1 End Month 84
Objectives
(1) Coordinate and consolidate the diagnostic data availability and collation effort in the CRN diagnostic workstream that
is based on the existing ERN-led ecosystem, and also comprises national UDPs, national diagnostic centres, programs
and national mirror groups; (2) Implement data standardisation, sharing, federation and quality control so that data
research re-analysis methodologies can be applied for solving unsolved RD patients and to shorten time to diagnosis;
and (3) Ensure access to the data during the project to enable re-analysis of large datasets. This allows a quick return of
research results to the clinics, and to RD patients and their families.
Description
T6.1. Coordinate and consolidate the diagnostic research data availability and collation effort in the diagnostic research
workstream (M1-M84) TL: UT, CNAG, UTARTU. Contributors: CRG-CERCA, UMCG, CIBER, ISCIII, Aalborg UH,
Aarhus UH, AOU Meyer IRCCS, APHP, CCRI GmbH, CHU Dijon, Erasmus MC, IBG, IGC PAN, INSERM_IT-GGB,
INSERM_U1112, INSERM_U974, MUS, RCSI, REGIONSYD, UCAM, UNEW, UKCL, UNICAMPANIA, UNISI,
UoC, VIB, VULSK, UO, ERN HCPs, diagnostic centres and RD NMGs throughout Europe linked to ERNs and UDPs.
T6.1. will focus on coordinating and consolidating the CRN diagnostic research workstream. The following activities will
be pursued: (1) Establish and operate a Data Availability Committee to coordinate data availability activities (distributed/
federated approaches); (2) Consolidate research and data policies and agreements in line with 1+MG and GDI; (3)
Consolidate standards, minimum quality criteria and processes for omics, phenotypic and meta-data availability and
collation in line with GDI and 1+MG; (4) Set up a working group that comprises the different stakeholders (1+MG RD
use case, GDI, ERNs and diagnostic centres, ERDERA data service hub) to prepare, pilot, and scale-up the federated data
collation approach; (5) Qualify participating ERNs, UDPs, and diagnostic centres in line with 1+MG/GDI, cooperating
closely with capacity building in WP20; (6) Establish a network of diagnostic research centres in underrepresented
countries based on NMGs, ERNs, Joint Action JARDIN, and 1+MG; and (7) Implement the CRN diagnostic research
data management system developed in WP15. T6.1. aligns with GO:1; SO:2,5; OO:3,5.
T6.2. Data standardisation, sharing, and federation (M1-M84) TL: CNAG, UTARTU, CAD. Contributors: UT, CRG-
CERCA, UMCG, RS, GMS-RS, NKUA, UANTWERPEN, IPG,UO, Aalborg UH, Aarhus UH, AOU Meyer IRCCS,
APHP, CCRI GmbH, CHU Dijon, Erasmus MC, IBG, IGC PAN, INSERM_IT-GGB, INSERM_U1112, INSERM_U974,
MUS, RCSI, REGIONSYD, UCAM, UNEW, UKCL, UNICAMPANIA, UNISI, UoC, VIB, VULSK, UO ERN HCPs,
diagnostic centres throughout Europe linked to ERNs, RD NMGs and UDPs.
T6.2. will serve the CRN Diagnostic Research ecosystem by collating REAL (RE-Analysis Logistics) datasets from
undiagnosed patients enabling both distributed and federated re-analysis approach. The following activities will be
pursued: (1) Establishment of a CRN diagnostic research data availability helpdesk; (2) Making available and federate
standardised pheno-clinical information, genomic data (including exomes (Y1-3), short-read (Y1-Y7) and long-read
genomes (Y4-Y7) and other omics datasets to serve WP7 and WP8 following standards and quality criteria consolidated
in task 6.1.; (3) Ensure all clinical information and metadata is linked to the CRN data management system and files are
made available to task 6.3 for distribution across data hubs of the CRN diagnostic research workstream and for returning
of research results; (4) Implementation of an automated data quality control system to ensure minimum data quality
standards establish in 6.1 are met for delivering reliable results in WP7 and WP8. T6.2. aligns with GO:1; SO:2,5; OO:2.
T6.3. Data access and returning research results (M1-M84) TL: UT. Contributors: CNAG, CRG-CERCA, UMCG, CAD,
RS, GMS-RS, NKUA, UANTWERPEN, CENTOGENE, IPG, UO, Aalborg UH, Aarhus UH, AOU Meyer IRCCS,
APHP, CCRI GmbH, CHU Dijon, Erasmus MC, IBG, IGC PAN, INSERM_IT-GGB, INSERM_U1112, INSERM_U974,
MUS, RCSI, REGIONSYD, UCAM, UNEW, UKCL, UNICAMPANIA, UNISI, UoC, VIB, VULSK, UO, ERN HCPs,
diagnostic centres throughout Europe linked to ERNs and UDPs, RD NMGs.
T6.3. will establish a secure and collaborative data framework that encompasses data access, transfer and distribution as
well as returning diagnostic research results for federated and distributed approaches. The following activities will be
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pursued: (1) Alignment with WP14 and WP15 task 15.1 to integrate metadata information and data transfer procedures in
the CRN Diagnostic Research management system; (2) Planning data access for research re-analysis, including analysis
results (Y1-3); (3) Data transfer from the CRN diagnostic workstream entry points (task 6.2) to points of data analysis
according to the needs of WP7 and WP8; (4) Utilising the CRN diagnostic research data management system to return
research results following GA4GH policy recommendations in a timely manner including monitoring time-todiagnosis;
(5) Periodic submission of relevant variant results information to international public databases like ClinVar. With WP14,
we will promote a federated data sustainability model relying on GDI national nodes (e.g. Federated EGA), although
central EGA in Barcelona will provide central sustainability until federated model is available (and for partners that
cannot submit to a national node). T6.3. aligns with GO:1; SO:2,5; OO:2.
Work package WP7 – Genome re-analysis research pipeline
Work Package Number WP7 Lead Beneficiary 10 - CNAG
Work Package Name Genome re-analysis research pipeline
Start Month 1 End Month 84
Objectives
(1) Coordinate a pan-European genomics diagnostic research pipeline beyond the state-of-the-art diagnostic pipeline;
(2) Re-analyse existing data moving from a distributed to a federated one to discover new molecular diagnoses from
known, and novel, disease-gene associations; (3) Leverage knowledge and develop best practices to improve variant
interpretation across disease groups and ERNs and discover new gene-disease associations; and (4) Facilitate the
adoption of knowledge, prepare and share best practice guidelines across disease groups and ERNs.
Description
T7.1. Exome and genome re-analysis pipeline coordination and monitoring (M1-M84) TL: UT, CNAG, SRUMC;
Contributors: CHU DIJON, UNEW*, UGENT, ISCIII-IIER, CAD, UU, CENTOGENE, CHEO-RI*, UMCG,
EURORDIS, CIBER.
T7.1. will establish one Data Analysis Task Force (DATF) and three super-Data Interpretation Task Forces (DITFs)
to bring together the expertise from data analysis and clinical researchers. The committee will jointly coordinate and
monitor the continuously revised CRN standard diagnostic research pipeline for REAL data sets (e.g. phenotype,
pedigree and genetic data), which should be applicable in both a distributed and federated manner (based on Solve-RD,
using GRCh38). The committee will also coordinate and monitor the
strategy (e.g., data freezes, prioritization and monitoring of re-analysis projects, interpretation strategy, participating
groups, and timelines, summarizing and reporting of results and findings), engage with other WPs (e.g., WP6, WP8,
Data Services Hub) for data transfer, and align with B1+MG/GDI initiatives. T7.1. aligns with GO:1; SO:5; OO:2,3,5.
T7.2. Standardised exome and genome re-analysis beyond state-of-the-art diagnosis (M1-M84) TL: CNAG,CAD;
Contributors: UT, SRUMC, UU, CENTOGENE, CHEO-RI*, UMCG, Inserm_Orphanet, CIBER. In Y1-3, standardized
re-analysis of REAL data sets will be organized through distributed analysis, the RD-Connect GPAP and other platforms
(coordinated via T7.1). In parallel, a federated model will be prepared, in collaboration with WP15, to ensure pipeline
portability and implementation, and with those partners having capacity (INSERMCAD, UU). Federated analysis will
be favoured as soon as operational and deployment aspects are resolved. The first 18M will focus on exome re-analysis,
moving to srWGS, and LRS later (informed by WP8). Analyses will include all variant types, for which consensus
algorithms are determined via ‘Data Challenges’. Initially, focus will be on coding regions, shifting to non-coding regions
on par with analysing genome REAL data. Variants will be transferred to DITFs (T7.3) for interpretation. T7.2. aligns
with GO:1; SO:1,4,5; OO:1,3.
T7.3. Innovative exome and genome re-analysis (M7-M84) TL: SRUMC, ISCIII; Contributors: CHU Dijon, UGENT,
UNEW*, CENTOGENE, RS(GMS-GMCK), GMS-RS, IMAGINE, CHEO-RI*. Interpretation of variants (from T7.2)
will be coordinated by 3 super-DITFs for efficiency and uniformity across all disease groups/ERNs. Super-DITFs
are responsible for multiple disease groups/ERNs, combined based on overlapping clinical spectra, or joined through
national undiagnosed disease networks. Involvement of local HCPs is achieved via data submission (WP6) and yearly
‘Solvathons’ (years 2-6). First, we will focus on interpretation of existing genomic datasets, and the coding sequence,
moving towards non-coding sequence with the availability of genome data and other -omics datasets (informed by WP8).
In addition to analysis of known RD disease-genes, focus will include novel disease-gene/mechanism discovery. New
diagnoses will be communicated to the patients via the local HCPs/submitters. T7.3. aligns with GO:1; SO:1,4,5; OO:4,5.
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T7.4. Propagation of knowledge and best practice guidelines (M1-M84) TL: KU Leuven, INSERM_U974; Contributors:
CAD, IBG, SRUMC, EURORDIS, CNAG. To shorten the pathway to diagnosis and to treatment, two translation tools
will be targeted. First, a molecular diagnosis may provide (in)direct leads for therapeutic strategies in n=1 or n=few trials
(link to WP12), requiring links with repositories to Treatabolome (link to WP16) and/or other actionable variants for
immediate identification. We will provide implementation
guidelines to promote implementation in local health care services. Second, the usefulness of knowledge base and
ontologies (WP16) will be promoted and evaluated for their performance in clinical context based on their yield. T7.4.
aligns with GO:1; SO:1,2; OO:1.
Work package WP8 – Innovation to shorten time to RD diagnosis
Work Package Number WP8 Lead Beneficiary 11 - SRUMC
Work Package Name Innovation to shorten time to RD diagnosis
Start Month 1 End Month 84
Objectives
To establish the most innovative diagnostic approaches for RD to enable a significantly shorter time to diagnosis by
full genome analysis, omics integration, and interpretation. These innovations will be crucial to make more RD families
amenable to actionability, therapy, and improved care. Several WP8 objectives can be later utilized by joint transnational
calls. Specific objectives: (1) Enable complete long-read genome analysis for RD diagnoses as a truly generic and
fully complete test; and (2) Develop new genomics and integrated multi-omics approaches to interpret genetic variation
enabling improved RD diagnoses and that can be implemented across Europe.
Description
T8.1. Enable inclusion of underrepresented countries into innovative RD diagnostic research (M1-M48) TL: MUH,
VULSK, Contributors: SRUMC, TUM, CNAG, UT. T8 will connect RD experts across Europe and let RD clinicians,
scientists, and patients from underrepresented countries participate in the diagnostic innovations and train a RD-expert
network in selecting RD patients for the T8.2-3 use cases. This capacity building (with WP20.3) leads to optimized RD
case selection, increased and faster diagnoses. T8.1. aligns with GO:1; SO:1,2,4; OO:1-4.
T8.2. Enable complete long-read genome sequencing and analysis for RD to shorten time to diagnosis (M1- M84) TL:
SRUMC, UT; Contributors: UMCG, CHEO-RI*, TUM, CNAG. We will provide RD-optimized longread sequencing
(LRS) pipelines. These shall be tested on selected use cases (Task 8.1) to assess diagnostic rate and time to diagnosis.
Our LRS experts will analyse and interpret data jointly with disease experts. Innovations will lead to a truly complete
and generic diagnostic test, with best practices translated across Europe. T8.2. aligns
with GO:1; SO:1,2,4; OO:1-4.
T8.3. Enable complete genome mapping for RD to shorten time to diagnosis (M13-M48) TL: SRUMC, UCL*;
Contributors: TUM, CNAG, UT. As in T8.2, we will provide RD-optimized ultralong-read optical genome mapping
(OGM) pipelines to the RD community, however, with a focus on other use cases, leading to more complete RD
diagnostic tests, best practices, and translation across Europe. T8.3. aligns with GO:1; SO:1,2,4; OO:1-4.
T8.4. New genomics (transcriptomics) analysis capabilities to understand genetic variation in RD (M1-M84) TL: TUM,
CCRI GmbH; Contributors: CUH*, IBG, CNAG, SRUMC, UT. RNA-seq reveals aberrations in expression and splicing
missed by genome analyses, leading to increased diagnostic rates and mechanistic insights. Together with national efforts,
we will develop algorithms, interpretation guidelines, and interfaces to jointly analyse DNA and bulk and single-cell
RNA data. It will include variant effect predictors with (sc)RNAseq-based tools and variant phasing from long-read
sequencing. We will record diagnostic rates by aberration type and time each step from the first visit to diagnostic. T8.4.
aligns with GO:1; SO:1,2,4; OO:1-4.
T8.5. Multi-omics data integration to shorten time to diagnosis in RD (M13-M84) TL: TUM, AMU; Contributors:
CCRI GmbH, OPBG, REGIONH, SRUMC, CNAG, UT. T8.1-4 focus on pinpointing the effects of variants on the gene
they are located in. However, disease-causing variants can also affect in cascade the function of further genes. These
consequences can be used to identify the culprit and understand disease mechanisms. T8.5 will do so by implementing
new AI techniques integrating multiscale omics data layers and phenotypic data, with a focus on epigenomics. Every step,
data modality, and analysis strategy will be monitored for time and diagnostic rate. T8.5. aligns with GO:1; SO:1,2,4;
OO:1-4.
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Work package WP9 – Real World Data
Work Package Number WP9 Lead Beneficiary 13 - UKHD
Work Package Name Real World Data
Start Month 1 End Month 84
Objectives
To augment the trial readiness of real-world data available to the CRN partners. Specific objectives: (1) To develop
an efficient system to retrieve primary healthcare data for RD outcome research; (2) To demonstrate the utilization of
population-based data in RD outcome research; (3) To generate powerful reference patient cohorts by integration of
heterogeneous data sources; (4) To collect and make available regulatory-grade natural history reference data; (5) To
develop innovative models to predict disease progression in rare and ultrarare diseases; (6) To develop a platform for
clinical trial simulation of RD populations. (7) To demonstrate the usefulness of the ERDERA Data and Expertise Hubs
for enhancing the clinical trial readiness and scientific value of RD RWD.
Description
T9.1. Use of primary healthcare data for RD outcome research (M1-M60) TL: SRUMC; Contributors: VHIR,
APHP, Erasmus MC, UPM, LMU, KUM. Structured and unstructured EHR data will be extracted and prepared for
re-use in registries and outcome research projects. The following disease groups will be studied: Urogenital and
craniofacial anomalies, neuromuscular disorders, epileptic encephalopathies, mitochondrial diseases, and rare anemias.
Each subproject will involve EHRs at several HCPs, with different platforms (commercial and in-house) and different
languages. Different solutions will be benchmarked on a common set of manually annotated EHRs in different languages.
In parallel, we will demonstrate for each site how automated extraction from EHRs can be realized. This involves the
following steps: (1) Obtain institutional approvals and data use conditions for EHR data extraction from HCPs; (2) Data
pseudonymization and determining level of anonymity; (3) Compile structured and/or unstructured data items to be
extracted; (4) Implement mappings to existing ontologies and semantic models, starting with common data elements
(CDE), semantic model for CDEs and mappings to OMOP; and (5) Create structured output forms from unstructured
text using NLP methods and evaluate their utility by clinical domain experts. T9.1. aligns with GO:2,3; SO:2,5; OO:1,2.
T9.2. Use of population-based data for RD outcome research (M1-48) TL: APHP; Contributor: Sciensano, UKHD.
Innovative approaches to empower population-based outcome research will be developed in T9.2., including the
development of a generic minimal interoperable dataset for population-based studies based on linked ERN and social
security data. Three case studies will cover different care pathways, including one mostly surgical, one mostly based
on successive drug regimens, and one based on neonatal screening: In ST1, exploring Dravet syndrome, the French
National RD Registry (BNDMR), and National Health Data System (SNDS) will be combined with the Italian national
Dravet registry to study the impact of drug therapies on life expectancy and healthcare costs. Both cohorts will be shared
with the EpiCare registry. In ST2, national health insurance data of Hirschsprung disease patients will be linked with
outcome data collected nationwide in Belgium, combined with equivalent national healthcare data from BNDMR and
SNDS in France, analysed for the impact of phenotype and care pathways on health outcomes, and shared with the
ERNICA registry. ST3 will develop a pathway for evaluation of the long-term impact of population-based newborn
screening (NBS). A generic NBS module with controlled vocabularies and ontologies will be developed, enabling AI/
ML data readiness. The module will be adapted for metabolic diseases and implemented in MetabERN’s U-IMD registry,
which contains longitudinal RWD from patients diagnosed either pre-symptomatically by NBS or after manifestation
of symptoms. This will enable evaluation of NBS programmes across various screened diseases and EU countries and
involve interactions with the Screen4Rare/ERN multistakeholder platform and ongoing EU initiatives towards genomic
NBS (Screen4Care, NGS4NBS). T9.2. aligns with GO:3; SO:2; OO:2.
T9.3. Integration of patient cohorts for natural history/standard-of-care reference studies (M1-M60) TL: UKHD;
Contributors: APHP, UT, LUMC, SRUMC. T9.3. aims to demonstrate the usefulness of the ERDERA Data Hub
services to integrate existing RD registry data into large high-quality reference cohorts for future clinical trials. Four
case studies will be performed: (1) Three regional registries from Italy, Germany and France will be joined with the
ILIAD registry, and a national French cohort to create a single natural-history cohort of “RASopathies”, a disease
group for which molecular therapeutics are becoming available; (2) The international PodoNet Registry of >2,000
children with congenital and steroid resistant nephrotic syndrome will be integrated with the respective sub-cohort
in the ERKReg Registry and local databases to form reference populations for emerging first-in-human gene therapy
studies in monogenic podocytopathies; (3) Rare endocrine and bone disease cohorts followed in the EuRRECa/EURR-
Bone registries will be pooled with institutional and national databases to generate reference outcome data for surgical
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interventions, e.g., in pituitary adenoma or osteogenesis imperfecta; (4) The TreatHSP (hereditary spastic paraplegia),
PROSPAX (spastic ataxias) and ARCA (autosomal recessive cerebellar ataxia) registries will be integrated to >5,000
data sets including clinical information, digital mobility measures, molecular biomarkers, and genetic markers to develop
advanced disease progression models (task 9.5) and patient-relevant outcome concepts (task 10.1). All integrated cohorts
will be FAIRified, onboarded to the ERDERA Virtual Platform and made available in clinical-trial ready formats (tasks
9.4, 13.3, 14.2). The metadata of all cohorts will be deposited in ERDRI. A concept for future integration in the EHDS
will be developed. T9.3. aligns with GO:1,3; SO:2; OO:2,3.
T9.4. Development of a blueprint and inventory of regulatory-grade natural history cohort data (M1-M84) TL: LMU,
KUM; Contributors: UKHD, INSERM_U1112, C-Path. T9.4. aims to establish the procedures for academiadriven
registries and cohort studies to achieve EMA qualification to serve as external comparator arms in CTs, post-authorisation
safety surveillance and efficacy studies. For such EMA qualification, RWD must fulfil numerous requirements and must
undergo extensive and iterative regulatory discussions. We plan to develop a procedural blueprint based on the exemplary
processing of three European RD registries and cohort studies (on mitochondrial disorders, hereditary spastic paraparesis
and C3 glomerulopathy). From these pilot projects, an inventory and point-by-point guidance will be developed, and
comprehensive support provided for registries/cohort studies aiming to achieve regulatory-grade status. The project will
be performed in collaboration with EMA’s Data Analysis and Real-World Interrogation Network and coordinated with
the IHI consortium for innovative RD therapies. T9.4. aligns with GO:2; SO:2; OO:2.
T9.5. Disease progression modelling and prognostic biomarker research (M13-M60) TL: UT; Contributors: VHIR, UPM,
UKLFR, UKHD. T9.5. aligns with GO:2,3; SO:1,2; OO:1. T9.5. will develop and apply innovative RD progression
modelling methodology in three paradigmatic disease groups: ST9.5.1. Focuses on spastic ataxia diseases (SPAX), a
group of >300 ultrarare diseases which share progressive damage to the spinocerebellar and pyramidal tracts. Multimodal
longitudinal outcome datasets established in task 9.3 will be utilized for disease progression modelling. An innovative
statistical toolbox for individual and n-offew diseases course prediction based on clinical and biomarker profiles (digital-
motor datasets, molecular and imaging biomarkers, genetic stratifiers) will be developed and validated.
ST9.5.2. Address sickle cell disease, aiming to develop individual risk models to improve disease characterization
and health status monitoring, personalize therapeutic approaches and ultimately optimize health outcomes. Further to
the longitudinal dataset of the rare anemia ERN registry with >600 variables covering clinical manifestations, organ
damage, treatments, and laboratory data mapped in OMOP, multimodal information including metabolomic, genomic
(SNP microarrays) and radiomic data (>500 cerebral MRIs) is available for analysis.
ST9.5.3. Explore spinal muscular atrophy, using the SMArtCARE registry with longitudinal data from >2000 patients
treated with one of the three drugs approved for this disorder. This high-quality longitudinal dataset, which is part of
the EURO-NMD registry hub and currently used for regulatory and HTA purposes, will be used to model SMA disease
trajectories and to test the reproducibility of clinical trial results in a real-world setting. The projects will receive extensive
support from ERDERA modelling experts (WP19). Prior EJP-RD work on individual disease prediction, quantification
of uncertainty and simulation of treatment-induced deviations will be developed further towards multimodal outcome
progression modelling and use for trial-readiness. The simulation of treatment-induced deviations from predicted
individual progression trajectories for ultra-rare neurological diseases will set the stage for the innovative n-of-1 and n-
of-few treatment trials envisaged in WP12.
T9.6. Development of a model-based clinical trial simulation platform for RDs (M7-M54) TL: C-Path; Contributors:
DDF, UKHD. T9.6. will use existing and create new model-building technology to demonstrate the creation of Drug
Development Tools (DDTs) that will improve the understanding of RD progression patterns and help predicting the
effectiveness and safety of new drugs faster, with more certainty, and at lower costs. Natural history and previous clinical
trial data will be used to develop prediction models that allow to simulate therapeutic intervention effects on clinical
endpoints and trial sample size requirements, using both conventional and smallpopulation trial designs. Data modelling
will be performed on the C-Path RDCA-DAP platform. A strategy for the formal review and potential regulatory
endorsement of the quantitative and/or AI based disease progression models as DDTs will be developed. Two therapeutic
areas have been selected for DDT development based on their advanced stage of regulatory milestone achievement
and initial modelling experience: Duchenne Muscular Dystrophy (DMD) and Autosomal Dominant Polycystic Kidney
Disease (ADPKD). The experience of DDF in novel machine learning (ML) methods and C-Path's expertise in
developing quantitative solutions will be joined to generate an enhanced CTS tool for DMD. For ADPKD, ERKNet with
its registry cohort of >3,000 patients, CPath and the US PKD Outcomes Consortium will undertake a transcontinental
collaboration to develop a globally applicable PKD progression model towards regulatory maturity as a DDT. Based on
the modelling expertise generated in the ADPKD project, modelling of the eGFR loss endpoint will be considered also
for other progressive rare kidney diseases with a therapeutic perspective (e.g. SRNS, IGA nephropathy, complement
mediated diseases) for which high-quality RWD is available. T9.6. aligns with GO:2; SO:2; OO:1,2.
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Work package WP10 – Clinical Outcome Assessment
Work Package Number WP10 Lead Beneficiary 15 - VHIR
Work Package Name Clinical Outcome Assessment
Start Month 1 End Month 84
Objectives
WP10 aims to promote the development and integration of PCOMs (PROMs and other COA types) together with PREMs
and socioeconomic information for monitoring clinical research (CTs, clinical studies, patient registries) and assess its
efficacy and safety for patients together with the evaluation of disease progression: (1) To develop a platform for the
development and validation of regulatory-grade PCOMs for RDs which are suitable for establishing truly patient-centred
clinical trial endpoints, based on core disease/group of diseases impact sets on the patient as well as societal level; (2)
To develop and implement digital tools allowing efficient and broad collection of PCOMs patient self-reported data
(PROMs/PREMs, socio-economic information etc) in RD patient cohorts and integration with patient databases and
research data; and (3) To systematically explore the societal impact and personal burden of RDs across Europe.
Description
T10.1. Platform for regulatory-grade patient-centred COA development and validation (M1-M84) TL: UKHD;
Contributors: VHIR, LMU, KUM, UT, APHP, Erasmus MC, MRT, EURORDIS. In a multistakeholder patient-centred
process, we will develop patient-reported outcome assessments and assess patient-relevance of top-ranked COA
candidates for five demonstrator RDs (HSP/ataxia [ERN-RND], RASopathies [ERN-Ithaca], mitochondrial disease [5
ERNs], rare anemia disorders [ERN-EuroBloodNet], and craniofacial anomalies [ERN CRANIO]. We will: (1) establish
ICF-coded core impact sets for each of the RDs, (2) match ICF-coded functional impacts with suitable existing PROMs
(Coll ERICA), and (3) validate PROMs in at least 3 European languages, establishing sensitivity to change, meaningful
within-patient change and crosslanguage equivalence. Additionally, anchoring studies for top-ranked COA candidates in
the four demonstrator diseases will be performed to establish their patient-relevance. T10.1. aligns with GO:2,3; SO:1-4;
OO:1,4,5.
T10.2. Development and Implementation of Clinical Outcome Assessment Tools (M1-M84) TL: VHIR; Contributors:
UT, APHP, UKHD, UPM, EURORDIS. In T10.2., methodologies to collect and implement PCOMs data linked to
patient registries will be developed, considering legal, technological, and regulatory requirements, and validated in 4
case studies using mobile health solutions and devices on rare neurological, neuromuscular, kidney, and haematological
disorders. (1) Development of study protocols including the collection of end-user clinical and technical requirement
and data standardization (Coll WP13); (2) Identification of available mobile Apps and devices and their readiness (Coll
WP14); (3) Clarification of regulatory aspects: mHealth privacy and security protections (Coll WP18); (4) Development/
adaptation of mHealth solutions linked to patient registries; (5) Clinical studies execution; (6) Validation of patient
generated data for data quality; and (7) Development of a data visualization framework. T10.2. aligns with GO:2,3;
SO:1-4; OO:1,2,5.
T10.3. Unveiling the Hidden Burden: Estimating the Socioeconomic Impact of RDs for Informed Decision Making
and Resource Allocation (M13-M72) TL: Sciensano; Contributors: Erasmus MC, RDI, EURORDIS, APHP, WDO,
CVBF, QUB-UK*. T10.3. will establish and implement a framework for estimating the socioeconomic impact of RDs
in Europe based on real-world data through data mapping, Disability Adjusted Life Years (DALY) calculation, and
cost estimation in ten RDs and related available registries. 1) Protocol based on harmonized and improved methods for
calculating RD DALYs. It will include consensus disease models, outlining the key health states and Disability Weights.
2) Protocol based on harmonized and improved methods for calculating Cost of Illness (COI) associated with RDs,
including caregivers. It includes assessing direct medical costs and assessing indirect costs by monetizing Years of Life
Lost (YLL). Protocols will include methods to visualize the impact of different scenarios, e.g. impact of new treatment
on the DALY and COI estimates. A dedicated stakeholder strategy targeting patient registries owners will foster uptake
at national level, aiming for routine quantification of the socioeconomic impact of RDs. T10.3. aligns with GO:2,3;
SO:3,4; OO:1,4,5.
Work package WP11 – ATMPs
Work Package Number WP11 Lead Beneficiary 1 - INSERM
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Work Package Name ATMPs
Start Month 1 End Month 84
Objectives
To demonstrate the applications of established innovative, scalable technology platforms of ATMPs developed in the
Acceleration hub for prioritized RDs. This WP will collaborate with the two WPs that focus on diagnosis and natural
history studies, which are essential for therapy development. In the first year of the project, the objective will be to
identify the most urgent and suitable disease groups for ATMP therapies. For following years, objectives will be: (1) To
match technology platforms to diseases with greatest need for and benefit from ATMPs; (2) To design proof of concept
studies to pressure test selected technology platforms; (3) To assess readiness to enter a clinical development based on
available data and technology platform; and (4) To promote ATMP clinical development by establishing a network of
qualified clinical trial sites.
Description
T11.1. Identify and rank disease indications requiring ATMPs (M1-M12) TL: UKHD; Contributors: EURORDIS,
CVBF. A multistakeholder survey will be performed across the ERDERA. First, general criteria for ATMP treatment
suitability will be pre-defined by experts. The main parameters and relative weight in the algorithm will include disease
demographics, morbidity/disability, potential for therapeutic efficacy based on mechanistic considerations, availability
of established intervention endpoints, natural history studies, efficacy and
safety of current therapies, availability of European study cohorts. Priority lists of suitable candidate conditions will be
generated, and the most promising candidates will be chosen for demonstrator projects. From the collected information,
priority lists of suitable candidate conditions with the greatest anticipated potential benefit from ATMP therapies will
be derived for each ATMP class and the most promising candidates will be chosen for demonstrator projects. T11.1.
aligns with GO:2; SO:1,2,4,5.
T.11.2. Select and adapt the technical platforms with prioritised need (M12-M36) TL: GNT; Contributors: Inserm_ART-
ARNm, Pfizer*. Technical platforms with high performance identified among those developed in WP21 will be
selected to meet the requirements for the disease list developed in T11.1. The ATMPs experts committee including
multiple stakeholders created during T11.2 will prioritize the disease list, minimize the risks associated to the project
implementation and identify three diseases for proof of concept. The criteria used for disease selection and the different
views brought from the members of the selection committee will be used for the development of a specific algorithm
based on AI (fitting gene sequence, gene size, organ/cell type and type of genetic modification and delivery system) that
will help the future generations in such prioritisation strategies. T11.2. aligns with GO:2; SO:1,4; OO:2.
T11.3. Design the proof-of-concept studies to evaluate the selected pipelines (M36-M72) TL: INSERM_ART-ARNm,
INSERM_IT-GGB; Contributors: FHG, GNT. Proof of concept studies will be designed to test the available technology
platforms identified in T.11.2 on disease prioritized in T11.1. Human-based disease models of high clinical biomimicry
including patient-specific disease models will be privileged whenever available. In case of metabolic diseases, the
objective is to evaluate the efficacy of liver targeting in the presence of an underlying diseases, e.g., fatty or fibrotic liver
so to better resemble the conditions encountered in western countries. Neurological disorders requiring central nervous
system, muscle or dual CNS/muscle targeting represents the current frontier of gene transfer will be a second target.
Technologies targeting HSCs after systemic delivery will allow for gene replacement and gene editing thus addressing a
large part of rare genetic diseases. The task will be performed with a close interaction between the Accelerator hub and
clinical development partners to better implement the clinical translation. T11.3. aligns with GO:2; SO:1,4; OO:2.
T11.4. Evaluate the selected platforms for CTs requirement and joint transnational call (M48-M84) Contributors: CVBF,
UC, GNT, INSERM_ART-ARNm. The most effective combinations of innovative ATMP and RD in terms of therapeutic
efficacy as well as manufacturing capacity and cost-effectiveness will be selected for CTs by a dedicated Committee
of ATMP expert (M36-72) and incorporate inputs from experts in WP21 Innovative Therapies Technology Accelerator.
Criteria and assets for the selection of platforms/disease combination will be:
(1) The possibility to scale-out to GMP manufacturing of the Innovative ATMP; (2) Existence of sufficient data for the
authorization of a Clinical Trial Application including a proof-of-concept in an accepted disease model; (3) A positive
risk/benefit assessment for the patients; and (4) The existence of a clinical network able to perform the clinical trial
with access to the required patients. To this end, we will be launching internal call for partnership to build a regulatory
and clinical network supporting pre-IND studies (M24-48). ATMP based CTs will be funded through the JTCs within
the WP11 based on the priorities identified in Task 11.1 and the technology readiness assessed by the ATMPs experts’
committee. In addition, based on the advancement status of the preclinical phase, support to identify alternative fundings
for the clinical translation will be provided by the WP11 and the Acceleration Hub. T11.4. aligns with GO:2; SO:1,4;
OO:2,3.
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Work package WP12 – N-of-few Approach
Work Package Number WP12 Lead Beneficiary 16 - LUMC
Work Package Name N-of-few Approach
Start Month 1 End Month 84
Objectives
(1) Develop an academic platform to develop and test tailored antisense oligonucleotide treatments; and (2) Four use
cases to pressure test the platform.
Description
T12.1. Academic platform development (M1-84) TL: LUMC; Contributors: UKHD, UT, SRUMC, UKLFR, WDO,
RCC*. T12.1. aims to establish an innovative, scalable platform for academic development and implementation of
mutation-specific antisense oligonucleotide (ASO) treatments for individuals with nanorare RD mutations. Along this
pipeline will create a combined preclinical/clinical/regulatory framework for tailored n-of-1/n-of-few treatments; and
implement, standardize, and optimize each of its modules, processes, and levels. The platform will cover the following
aspects: (1) Patient identification (link to diagnostic registries in ERNs and treatment board); (2) ASO design and
synthesis (consensus on processes); (3) Efficacy assessment (consensus on processes); (4) Toxicity and safety assessment
(consensus on process and reducing the need of animals); (5) Identification of patient relevant outcomes in an n-of-few
setting and run-in natural history studies (task 12.2); (6) Treatment/study design and analysis (task 12.3); (7) A registry
to capture individualized patient relevant efficacy and safety outcomes before and after treatment; (8) Implementation
of first in human treatment infrastructure in n-of-few setting (task 12.4); (9) Regulatory; and (10) Ethical framework
(built from pieces generated for each of the aspects. In M1-36, we will build the components of the platform and roll
out to one underrepresented country. In M37-84, we will roll out the platform across other centres that will treat patients
with individualized therapies and iteratively optimize components based on feedback from the case studies (T12.5) and
participating centres. T12.1. aligns with GO:1; SO:1; OO:3,5.
T12.2. Identification of patient relevant-outcomes (n-of-1/few) and run in natural history study (M1-84) TL: UT;
Contributors: UKHD, LUMC, FSJD-CERCA. T12.2. aims to (1) Develop adapted processes for patient-relevant outcome
selection (CRN – Outcome Research) to fit the n-of-1/n-of-few setting; (2) Identify a toolbox of diseasespecific and
generic outcomes coordinated by the WP manager during consensus multistakeholder meetings including participants
from across Europe (at least 35% underrepresented countries); (3) Implement run-in natural history studies to determine
individual sensitivity to change of candidate outcomes selected by patient and clinician and pre-treatment progression
trajectories. T12.2. aligns with GO:2; SO:1; OO:3,5.
T12.3. Treatment/study design and analysis (M1-84) TL: UT; Contributors: UKHD, UKLFR, LUMC. T12.3. aims to
(1) Achieve consensus on strategies to evaluate treatment efficacy on an n-of-1 level (e.g., implementation of staged
evaluation milestones: safety – target engagement – efficacy on surrogate parameters – clinical efficacy); and (2) Develop
platform trial design that allow to assess efficacy of the platform approach across diseases and treatments, coordinated
by the WP manager. T12.3. aligns with GO:2; SO:1; OO:3,5.
T12.4. Implementation of first in human treatment infrastructure (M1-84) TL: UKHD; Contributors: UT, LUMC. T12.4.
aims to (1) Develop criteria and a process for site qualification; and (2) establish a network of qualified of clinical sites
in European countries that can carry out n-of-1 treatments. Criteria will be set, and pressure tested by first use cases by
centres with lead experience in implementing this human treatment infrastructure (see Task 12.5) and during consensus
meetings, coordinated by the WP manager. The infrastructure
will be rolled out to the first underrepresented country in M1-36. T12.4. aligns with GO:2; SO:1; OO:3,5.
T12.5. Case studies (M13-M84) TL: UT, UKHD; Contributor: LUMC. The power of the platform generated in Task 12.1
will be shown by 4 use cases, selected to represent different challenging scenarios (e.g. n-of-1; n-of-few; childhood/adult
onset; target tissue e.g. brain/eye/liver) to pressure test the platform. We will start with 2 use cases using ASOs for ataxia
telangiectasia and POL3RA-related neurodegeneration in M13-36. In M50-84, 2 other use cases will be selected from
within the network. These use cases can be either ASOs (using the whole platform) or ATMPs (using aspect 5-9 of the
platform). Selection will be facilitated by the selection criteria set in the treatment board (task 12.1) and in collaboration
with WP21. Note that for each use case a contribution towards development costs will be provided. T12.5. aligns with
GO:2; SO:5; OO:1,3.
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Work package WP13 – RD Virtual Platform (RD-VP) finding and accessing the data
ecosystem
Work Package Number WP13 Lead Beneficiary 1 - INSERM
Work Package Name RD Virtual Platform (RD-VP) finding and accessing the data ecosystem
Start Month 1 End Month 84
Objectives
(1) To scale up the federated infrastructure built in EJP RD (RD-VP) by evolving a service-oriented architecture (SOA)
in which data, knowledge, and analysis methods from CRN/JTC/CT projects can contribute to the ERDERA data hub as
value proposition, at annually increasing rates: To expand the adoption of semantic and technical standards to new sources
of data, in order to increase the interoperability and usefulness of the ecosystem for RD research (VP compliance); to
steer the expansion (make new resources, including CRN/JTC/CT results, automatically findable within the SOA-based
ecosystem) and reusability (allow for querying and reusing data within the connected resources) of the ecosystem in
relation to ERDERA workstreams needs, and to support their development; (2) To 40organize and technically lead the
teams of Data Hub + CRN/JTC/CT researchers and developers to effectively complete projects that result in increasing
numbers of stakeholders contributing to the Data Hub as value proposition (effectuate the CTO role); (3) To support
WP14-16 in their collaborations with projects contributing data, analysis, and knowledge to the ERDERA data hub as
value proposition; and (4) To ensure the interactions with other ecosystems in Europe and at the international level as
far as they respond to ERDERA needs. This WP impacts all GO:1-3; SO:1-5; OO2.
Description
T13.1. VP/data service hub steering (M1-M84) TL: INSERM_Orphanet; Contributors: LUMC;AUMC, UTWENTE,
Pfizer*, ROCHE*. Data Service Hub Task leaders, CRNs WS leaders, Funding research WS leaders, National and
international alignment WS leaders. The extension and evolution of the RD VP will follow a steering and prioritization
process, at the strategic and operational level. The VP is expected to evolve into an intelligent learning system in which
newly added resources contribute to statistical, AI, and ML applications. The strategic prioritization of the DSH activities
will be done in cooperation with the global ERDERA strategy (task 1.2), to ensure that developments and services in
the DSH remain aligned with the SRIA specific objectives, and with the ERDERA overarching prioritization. Special
attention will be given to the cooperation with other European and international initiatives. Crosstalk with the ERDERA
ELSI, IPR and regulatory services in relation to aspects relevant for the VP will be ensured. The operational decision-
making process will be designed according to Agile methods in monthly development cycles. T13.1. aligns with GO:1-3;
SO:1-5; OO:2.
T13.2. RD-VP evolution and scaling up (M1-M84) TL: UTWENTE, AIT; Contributors: INSERM_Orphanet, BBMRI-
ERIC, UPM, GUF, UMCG, LUMC, ULEIC*, CNAG, UKLFR, QUB-UK*. This task has two main responsibilities:
(1) Maintain and evolve the RD-VP’s architecture and specifications, and (2) Overlook the developments to guarantee
that they conform with the VP’s architecture. T13.2. main activities include: (1) Curation and evolution of the Virtual
Platform’s architecture and specifications in collaboration with all involved partners and Tasks 13.1 and 13.3; and (2)
Overarching technical developments management of the Virtual Platform to guarantee compliance of the developments
with the VP’s architecture and specifications in collaboration with the stakeholders responsible for the developments.
Service-oriented evolution of components, including VP Index evolutive maintenance, metadata and data models
updates, AAI and consent, PPRL interoperability, core Orphanet services, content discovery services based on Beacon
framework, distributed analysis services and VP Portal. T13.2. aligns with GO:1-3; SO:1-5; OO:2.
T13.3. VP onboarding services (M1-M84) TL: UMCG, UPM; Participants: SRUMC, LUMC, AUMC. T13.3. is
responsible for the maintenance and evolution of the onboarding documentation, services, operations, and support. Based
on the steering and prioritization of new resources to be connected to the RD-VP conducted by Task 13.1, Task 13.3
engages with these resources to offer support for the onboarding process, including automation approaches. Onboarding
of these resources will track closely with the requirements of WP14 and WP15, to aid in the rapid establishment of
analytical pipelines through improved resource discovery. T13.3 will implement practical tools, scripts, and templates
to expediate the onboarding process, using ERDERA prioritized software platforms and standards, including assistance
with hosting of connected services where needed, providing documentation/SOPs, a support channel and sessions into
ERDERA training WPs. Attention will be given to the appropriate capture of legal and IP expectations and constraints,
in relation with Task 1.6 – ELSI support service and WP18 Regulatory Support Service, to ensure proper usage, and
credit, of the onboarded resources. The onboarding task will closely interact with the mentoring and consultancy service
that integrates all ERDERA components and is designed to scale with the number of projects funded through JTC/CT
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and CRN projects. In a direct feedback loop the consultancy will apply onboarding services for new resource types
and provide feedback for their evolution. Conversely, the added value of onboarding will be directly demonstrable by
analyses that run on onboarded resources. T13.3. aligns with GO:1-3; SO:1-5; OO:2.
Work package WP14 – Data readiness services
Work Package Number WP14 Lead Beneficiary 16 - LUMC
Work Package Name Data readiness services
Start Month 1 End Month 84
Objectives
To expand the use of services by which RD partners contribute to ERDERA’s robust infrastructure of data, resources,
and expertise (SRIA OO2) to accelerate the automated ethical and legal exploitation of the healthcare and research
data from their projects (based on guidance from WP1 and WP17-19), boosting scientific and regulatory evaluation
and healthcare delivery (SRIA SO2). Specific objectives are: (1) To provide a workflow for RD partners to efficiently
organise interdisciplinary data readiness teams executing FAIR data creation and
FAIR data processing customised to their project, accelerating the expansion of the ERDERA-Data Hub and supporting
in-project analysis, federated learning and AI across projects; (2) To provide tools, semantic data models, and
specifications that enable RD partners to make data records that they manage ready for automated use if and when
accessed, and where needed initiate and monitor the development of missing tools, models and specifications. The
enrichment resulting from WP14 pertains to machine actionability and interoperability of data records. The container
of the records (e.g. a database or catalogue) must also be FAIR for the records to be findable, accessible, and reusable
within the VP (see WP13); (3) To provide tools and services for RD partners to prepare data for the regulatory pathway
in drug development, in collaboration with WP9 and WP18; and (4) To contribute to the design and privacy-preserving
use of personal data that guarantees that individuals can access data records derived from them, be informed of derivate
use of their data, data use conditions can be set at record or subset level, and partitioned data from the same individual
can be linked.
Description
T14.1. Services for making data findable, accessible, interoperable, reusable for automated applications (M1-M84) TL:
SRUMC, AUMC; Contributors: LUMC, UTWENTE, UPM, WDO, ISS, CNAG, FGB. T14.1. focuses on providing a
working model by which RD partners can increase the exploitability of the data that they manage for their project, and
for ERDERA, focusing on accelerating the adoption of instructions and tools (T14.2, T14.3) by the ERDERA projects,
complying the strategic objectives of the ERDERA (e.g. SRIA SO2 and the GOs it
serves) and in collaboration with NMGs. Following a landscape analysis, it helps organise co-creation teams and
workshops, via which a data readiness plan is made and executed. The results are tested by the ERDERA projects, and
stakeholders proving that the ERDERA-DH serves multiple stakeholders. The role of PLWRD in viewing and managing
their own data is monitored. T14.1. aligns with GO:1-3; SO:2,4,5; OO:1-5.
T14.2. Data ingestion tools (M1-M84) TL: UMCG, UPM; Contributors: AUMC, LUMC, SRUMC, AIT, CNAG, CRG-
CERCA. T14.2. focuses on providing generic tools that the data readiness teams use to accelerate the usability of data.
Data are made usable for responsible federated analysis on connected computing and analysis facilities. It builds on
tools and standards previously developed, such as by Solve-RD and the EJP RD. They in turn have built on international
collaborations and European projects that investigated implementation of FAIR data principles. Tools for making data
ready are identified and developed by co-creation teams, populating the ERDERA-DH. It achieves two goals: (i) make
data from CRN/funded projects more exploitable, (ii) evolve data ingestion tools for the ERDERA-DH, particularly
focusing on scalability. T14.2. aligns with GO:3; SO:1-3,5; OO:1-3,5.
T14.3. Services for advancing the regulatory pathway in drug development (M1-M84) TL: C-PATH, DDF; Contributors:
WDO, LUMC. Projects at all stages of the development need to contribute to regulatory approvals to address the unmet
medical needs of the RD community in a timely manner and in a way that is meaningful to patients. The development
of existing and new predictive tools and methods that qualify as Drug Development Tools (DDTs) require regulatory
and data science strategies at design and planning stage to accelerate innovation and the use of Real-World Evidence
(RWE) in study design and medicines developments. This task maximises the use of data by tools, accessible to the
community, for optimising and accelerating drug development for RDs. The C-Path Rare Disease Cures Accelerator-
Data and Analytics Platform (RDCA-DAP®) serves as an accelerator and target platform. It contributes best practices to
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scale up the usability of RD data in the regulatory process (WP9, WP17, WP18). It connects to the patient and regulatory
community through the patient advocacy groups of UPPMD and DDF. T14.3. aligns with GO:2; SO:2,4,5; OO:1-5.
Work package WP15 – Data sharing and analysis services
Work Package Number WP15 Lead Beneficiary 19 - UMCG
Work Package Name Data sharing and analysis services
Start Month 1 End Month 84
Objectives
(1) Provide analysis ready reference deployments of the ERDERA analysis infrastructure, including support and
interoperability with WP13-14 with ability to scale to cloud; (2) Provide protocols, software and pipelines for large
data sets and high-performance computing (HPC) analyses to the infrastructure; and (3) Provide protocols, software and
systems that enable federated data analysis use cases and pilots.
Description
T15.1. Data analysis platform deployment (M1-M84) TL: UMCG, ULEIC*; Contributor: CNAG, AIT. T15.1. aims
to deliver ready to use analysis infrastructure, integrating output of T15.2-3 and key resources, i.e., high performance
compute ‘cloud’ from EJP-RD, Solve-RD, CINECA, EOSC-life; federated analysis by Genomed4All, EUCAN-connect/
DataSHIELD; and user facing analysis services such as the RD-Connect GPAP and MOLGENIS. The infrastructure
consists of portable and interoperable packages that can be installed and scaled-up by ERDERA partners on-site or on
external (cloud) providers, including a system to track data, metadata, analyses, and the genomic variants interpretation
workflow. T15.1. aligns with GO:1-3; SO:1,2,4,5; OO:1-5.
T15.2. High performance compute pipeline and ‘cloud’ services (M1-M84) TL: UMCG, CAD; Contributor: CNAG.
T15.2. aims to integrate and maintain best practice analysis pipelines that require ‘high performance’ such as genomics,
AI and radiomics, building on key resources from RD-Connect GPAP/CNAG, MOLGENIS/UMCG VIP, PFMG2025,
Clinical Genomics Sweden, and analysis services such as C-PATH and Orphascape-phenotypic (see task 15.3), and
aligned with EOSC, EHDS and ESFRI developments (e.g. LS AAI via GDI project). Main work is to integrate methods
prioritized by CRN and funded projects into portable and interoperable HPC analysis pipelines, bundled in a ‘HPC’ in
a box template (‘starter kit’) to be installed by research partners to enable first distributed and later federated analysis
between the ERDERA partners. T15.2. aligns with GO:1-3; SO:1,2,4,5; OO:1-5.
T15.3. Federated analysis (M1-M84) TL: UPM, UU, CNAG; Contributor: UMCG, CAD, AIT, IMAGINE, CHEO-RI*.
T15.3. aims to upscale the analysis infrastructure in a federated fashion, leveraging infrastructure from 1+MG/GDI and
enabling distributed deployment of T15.1 and T15.2 assets to enable use cases and pilots in Subtask 15.3.1 (Federated
analysis and federated learning infrastructure) and Subtask 15.3.2 (Technical support for international federated genome-
phenome analysis for research) to realize intra-European and cross-continental analysis capability, starting with large
datasets relevant to CRN and JTC projects, aiming to a sustainable approach. T15.3. aligns with GO:1-3; SO:1,2,4,5;
OO:1-5.
Work package WP16 – Knowledge bases and ontologies for RD research
Work Package Number WP16 Lead Beneficiary 20 - AUMC
Work Package Name Knowledge bases and ontologies for RD research
Start Month 1 End Month 84
Objectives
(1) Ensure the evolution, harmonisation, extend and adaptation of pre-existing knowledge repositories and ontologies;
(2) Address the developing needs of RD researchers and clinicians regarding the use of knowledge resources; (3) Fill
identified gaps in knowledge bases; and (4) Demonstrate the utilisation of these resources in supporting diagnosis and
treatment research. This WP encompasses the following components: (1) PCOMs repository deployment; (2) Knowledge
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base of prenatal phenotypic features of RDs for early diagnosis; (3) System linking molecular diagnosis to treatment
(Treatabolome and RD maps); (4) RD maps – multidimensional knowledge networks – spanning from genetic causes to
observed phenotypes and treatment pathways; (5) Ontology of functional impacts of RDs; and (6) HOOM (HPO-ORDO
Ontological Module). Orphanet Functional Consequences Ontology (OFCO) covers various aspects related to RDs: (1)
Incorporates ontologies like ORDO and HPO used in the RD domain; (2) Includes semantic models such as the EJP-RD
semantic model; and (3) Integrates enriched versions of models like OMOP-CDM and CDISC. All resources are linked
to the VP and to WS and WPs throughout the ERDERA: (1) Integrated use cases are demonstrated; (2) Tutorials and
training offered; and (3) Made accessible for CRNs and funded projects in the form of services and collaborations.
Description
T16.1. Evolving a repository of FAIR Patient-Cantered Outcome Measures (PCOMs)/ Patient-Reported Outcome
Measures (PROMs) (M1-M84) TL: INSERM_Orphanet, MRT; Contributor: AUMC. T16.1. aims to expand the PCOMs
repository for RD developed in ERICA following the expansion of the annotations of functional impacts of RD performed
by Orphanet in collaboration with patient organisations and RD experts, by statistically clustering RD around their
functional impacts, to allow for repurposing of existing PCOMs. WP10 will use this repository for PCOMs validation
and will feed this repository with newly validated PCOMs. Clustering will be facilitated by the creation of an ontology
of functional impacts of RD in T16.5. T16.1. aligns with GO:3; SO:1-3; OO:1.
T16.2. Antenatal echographic and pathologic RD phenotypes knowledge base and ontology (M1-M84) TL:
INSERM_Orphanet, Sonio. T16.2. aims to leverage on the knowledge being generated by the software and AI for
prenatal diagnosis of RDs developed by Sonio, based on academic foetal medicine research, and to create a reference
ontology of phenotypic annotations corresponding to detectable RD antenatal abnormalities, by proposing an extension
of the HPO and Orphanet content (HOOM), in collaboration with foetal medicine and RD experts. This innovative,
openly reusable content will allow for its integration into diagnostic pipelines for early detection and action-taking on
RD, including guiding early genetic diagnosis, in the frame of CRN Diagnostics. T16.2. aligns with GO:1; SO:2; OO:1.
T.16.3. Treatabolome (M1-M84) TL: CNAG, INSERM_U974. The Treatabolome (http://treatabolome.org/) is a unique,
FAIR, resource initially developed in Solve-RD that provides evidence-based links from genes and variants to published
treatments with the objective that clinicians diagnosing patients can more easily find the published evidence they need to
make appropriate treatment decisions for their newly diagnosed patients. The Treatabolome is encoded using ontologies
and standards and the information is available through a user-friendly interface and an API to provide interoperability
with other tools such as clinical decision support software. This task will engage with the ERNs to seek expertise on new
disease groups and will develop a system to facilitate the entry of new data through literature mining and the curation
and update of knowledge through a crowd-sourcing approach. T16.3. aligns with GO:2; SO:1-3; OO:2.
T16.4. RD maps (M1-M84) TL: UM, LUMC; Contributor: AMU. T16.4. is dedicated to building tools and services
around RD maps connecting essential knowledgebases with each other, to provide models for identification and
prioritization of biomarkers for diagnosis and treatment. These RD maps are multi-dimensional models of RDs, starting
from molecular interactions – molecular machine-readable pathways developed in previously EJP RD – and connect
with established and newly developed knowledgebases from Task 1, 2 and 3 for
phenotype and genotype connections and will be annotated with RD ontologies from T5. Additionally, the RD maps will
support concrete research questions within the CRNs and funded projects. Within the project we will identify several
concrete questions to solve using the RD maps and provide workflows and demonstrators how to create and analyse
them, e.g. for ATMP or drug prioritization. The goal for the first 3 years is to establish workflows and interoperability
between the resources in how to create the maps, the next 4 years are used for identifying and solving concrete research
questions together with the CRNs and “ready” data from WP14 and WP9. T16.4. aligns with GO:1-2; SO:1,2; OO:2.
T16.5. Improving, creating, and expanding RD Ontologies and semantic models (M1-M84) TL: AUMC,
INSERM_Orphanet; Contributor: LUMC, UM. T16.5. aims to contribute semantically enriched information models
and ontologies to the graph-based repository emerging from this WP. On the one hand, existing RD ontologies will be
enhanced to allow for better integration with other data into knowledge models, and novel ontologies will be created
(antenatal phenotypes of D, T16.2., and functional impact of RD) and integrated with the Orphanet RD ontology
(ORDO). On the other hand, semantic models for disease-specific data elements, including PCOMs elements, will be
extended or developed, and semantic version of standard information models, including CDISC, OMOP-CDM, and
Phenopackets, will be produced. These standardised reference data will be reusable in the frame of CRNs and JTCs
research, as well as by Data readiness (WP14) and Data analysis (WP16) activities. T16.5. aligns with GO:1; SO:1,2,5;
OO:2.
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Work package WP17 – Mentoring and consultancy
Work Package Number WP17 Lead Beneficiary 22 - EATRIS
Work Package Name Mentoring and consultancy
Start Month 1 End Month 84
Objectives
(1) Continue and further expand the successful EJP RD mentoring programme; (2) Mentoring will be implemented as
an ERDERA strategy for projects funded by the alliance (WP3 and WP4) starting at the design phase and throughout the
entire life of the project. By adopting the successful light-touch mentoring support scheme from EJP RD, research teams
of the funded projects will benefit from a low threshold assessment of the critical milestones that are key for a successful
translational development with the objective of reaching the clinic as soon as possible; (3) Perform a feasibility study of
a potential workflow of additional expert support based on a consultancy services-based model. This study will analyse
the long-term sustainability for this potential service provision. The assessment of this study will be determinant for
including this additional service workflow in ERDERA; and (4) Provide feedback to ERDERA partners on the critical
barriers for project progression based on the interaction with the research teams and recommendations for profiling the
scope of the funding calls.
Description
T17.1. Execution of the Mentoring Program (M1-M84) TL: EATRIS; Contributors: FGB, VHIR. Coordinated and
managed by EATRIS, mentoring support will be provided to eligible applicants of the funded projects (WP3 and WP4),
who will be informed of the opportunity in the call text of the project calls, as well as through dissemination activities,
such as webinars and presentations at suitable meetings and conferences. Selected projects will be offered the support of a
dedicated Mentor (or mentors) who will utilize the Innovation Management Toolbox created in EJP RD and the EATRIS
database of mentoring experts (also including experts from the partners involved in ERDERA and other institutions
(including but not limited to ECRIN, CBVF, c4c, AFM Telethon and ISCIII. Experts will be trained in the mentoring
workflow and a comprehensive database will be updated and maintained to cover all the expertise of the RD research
value chain. Periodic reports of the mentoring activity will be generated that will be the base for the self-assessment
of the process and establish the rationale for eventual adaptations of both at the strategic and operational levels. The
mentoring process will also identify potential knowledge and methodology gaps that may require consultancy and/or
methodological support. The outcome of the process will be periodic reports of the mentoring activity that will be the
base for the self-assessment of the process and establish the rationale for eventual adaptations on both strategic and
operational levels. T17.1. aligns with GO:1,2; SO:2,4; OO:2.
T17.2. Consultancy service (M1-M84) TL: FGB; Contributor: EATRIS, VHIR. With the aim of providing the best
support to the development of projects funded by ERDERA, and in general to the RD community, FGB will lead,
during the first funding cycle, a task with the aim of exploring the need and the interest of providing additional expert
support in the framework of a consultancy-based support service. Direct feedback from the mentoring service, as well
as surveys and interviews with RD research teams will be the basis for a feasibility study that will assess the interest
of creating a consultancy-based service as an additional workflow in ERDERA activities. This study will analyse the
priorities, workflows, and financial sustainability of these potential service provision approach. A pilot test for assessing
the efficiency and implementation of consultancy services will be conducted by FGB during the
second funding and identify the feasibility of its implementation (including operational and financial considerations) as
an additional service of ERDERA. This task will be developed in 2 subtasks. T17.2. aligns with GO:1,2; SO:4; OO:2.
Work package WP18 – Regulatory support service
Work Package Number WP18 Lead Beneficiary 23 - FGB
Work Package Name Regulatory support service
Start Month 1 End Month 84
Objectives
To provide beneficiaries with a multi-specialistic regulatory support service, ensuring that consortiumderived tools,
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methods, data, and sources are in line with up-to-dated requirements for regulatory filings including qualification.
Specific objectives are: (1) To create a dedicated project Regulatory Support Group; (2) To develop new regulatory
support tools outlined in tasks 18.1 and 18.2 to facilitate more effective translation of new therapies to the clinic; (3)
To provide advice on opportunities, strategy, and timings to engage with regulatory agencies at the appropriate time
during the project; (4) To facilitate the applications for regulatory procedures to regulatory procedures to the European
Medicines Agency (EMA) or other regulatory bodies; and (5) To support efficient, regulatory-compliant first in man
CTs. Regulatory support will be also delivered to researchers from funded projects
through consultancy services (Task 17.2).
Description
T18.1. Regulatory support to preclinical research (M1-M84) TL: EATRIS, IABS-EU, Miltenyi*; Contributors: Pfizer*,
RJF*, AZ*, UCB*, HIPRA*, LAB HIPRA*, ROCHE*, FDB*. A one stop point to support preclinical research to
develop therapeutics, including ATMPs, for RD, in addition to the support outlined in task 18.2 will be created, to
facilitate a more accessible regulatory process by helping to implement new standards and tools that help developers
meet regulatory requirements early on. To this aim, this ERDERA regulatory support group will: (1) Facilitate successful
delivery and qualification of new tools and methodologies, appropriate resources, and databases that support efficient
ATMP development for RD; (2) Assess current Pharmacopeia chapters/monographs related to ATMPs for RD for
relevance and recommend necessary additions and modifications to be implemented based on the technology platforms
and new data generated within ERDERA and beyond, through close interaction with the European Directorate for the
Quality of Medicines & Health Care (EDQM); (3) Liaise with regulatory agencies including EMA and FDA; and (4)
Develop new SOPs for nonclinical and clinical development in close collaboration with ATMP developers. T18.1. aligns
with GO:2; SO:1,2,4,5; OO:2-5.
T18.2. Regulatory support to clinical research (M1-M84) TL: FGB, AZ*; Contributors: TEDDY. Task 18.2. will provide
advice on regulatory requirements with clinical research and regulatory procedures. This support will encompass
different types of clinical studies and regulatory procedures. The research specificities will be addressed: paediatric
provisions across all paediatric age groups in case of paediatric studies, provisions for genetic, clinical studies with
ATMPs according to Reg. 1394/2007/EC. The Regulatory support group will provide beneficiaries with sources,
guidance, recommendations, and webinars on the use of data and samples collected during both routine care and clinical
studies for regulatory purposes, e.g. dossiers for marketing authorisation applications of medicines and medical devices,
clinical studies. Other aspects will be addressed based on the
beneficiaries needs. The Regulatory support group will work with the EAB, the Data hub, the Consultancy service, the
CRNs, and the Accelerator Hub. It will facilitate engagement with regulatory agencies, including the EMA, to receive
the proper support/advice. The group will also help to identify the most suitable regulatory procedures where the research
activities need to be included. Whenever relevant, other regulatory agencies/authorities will be addressed as well. T18.2.
aligns with GO:2; SO:1,2,4,5; OO:2-5.
Work package WP19 – Methodological support
Work Package Number WP19 Lead Beneficiary 24 - APHP
Work Package Name Methodological support
Start Month 1 End Month 84
Objectives
To contribute to the knowledge transfer of (bio)statistical, data scientific, epidemiological, AI, and ML expertise with the
CRNs and other partners. The emphasis is on CTs, epidemiological studies, registries, RWD, and combinations thereof.
This rests on state-of-the art methodology and its implementation. When the clinical trial topics have been consolidated,
methodology will be further refined and updated. We will contribute to the WP17 Mentoring and Consultancy within
the broad competence of the participating partners. A strong interaction will be foreseen with the WP Data Readiness,
the WP Real World Data, the WP Finding and Accessing the Data Ecosystem, the WP Data Readiness Services, and
the WP Data Sharing and Analysis Services.
Description
T19.1. Methodological knowledge transfer towards local clinical trial teams (M1-M84) TL: APHP, INSERM_U1138,
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SFU; Contributors: UHASSELT, UKA. Innovative CT designs tailored to small sample sizes are needed for RDs. Often,
CT units in the field do not dispose of adequate knowledge or experts to plan CTs using designs for RDs (tailored
to patient’s heterogeneity, small sample setting, non-standard endpoints, etc.). We will transfer knowledge in terms
of (1) proposing suitable designs for RD clinical questions, (2) providing help in the protocol writing, (3) discussing
computational code or statistical package, (4) providing support during the conduct of the trial and in the trial analysis,
and (5) participating to the scientific manuscript writing. The idea is not to replace the work of the local teams but to
transfer the expert’s knowledge, tools, and confidence as a learning process. Local team should be able to use the first
trial as an opportunity to develop new skills to be used in future studies. T19.1. aligns with GO:2; SO:1,2,4,5; OO:2,3.
T19.2. Novel methodology for the use of all available knowledge, including RWD (M1-M84) TL: INSERM_1138,
UHASSELT, APHP; Contributors: PLUS. T19.2. aims to better characterise and understand patient’s disease trajectories
and treatments, in RD, one uses multiple data source coming from patients (i.e., real-world data, registries, clinical trial
data, patient reported outcomes, etc.) and preclinical trials findings on the disease pathway and mechanism. Incorporating
this knowledge into the design of a clinical trial or RWE is not straightforward and it requires specific methodological
considerations. We will propose statistical and ML approaches to maximize the use of existing knowledge. We
will propose multi-modal approaches, allowing modelling and analysing multisource (preclinical and clinical) and
multidimensional (omics, etc.) data. This will benefit clinical trialists and,
evidently patients, as the methodology will enrich information available from trials and therefore enable reducing their
length and size. T19.2. aligns with GO:2; SO:1,2,4,5; OO:2-5.
T19.3. Data analysis methodology when data are multivariate, hierarchical, incomplete, and of differing data types (M1-
M84) TL: UHASSELT, PLUS, APHP; Contributors: UU. In CTs, real-world studies, and other supporting data, data
structures are complex (e.g., data of different outcome types, longitudinally collected), yet using the full complexity
increases the chances of successful, shorter, and cheaper trials. Adequate models are needed. Their computational
feasibility needs to be ascertained, in view of small sample sizes. The use of surrogate marker methodology will further
enhance the methodology. Whereas in common diseases it allows to reduce sample size, in the RD context, it can ensure
that the maximally available sample size provides enough information to test a clinically meaningful hypothesis. When
data are incomplete, the primary analysis strategy should be chosen so that the assumption of Missingness at Random
applies. Then, sensitivity analyses should be done to investigate the stability of the results. This has set in motion an
entirely new strand of currently ongoing research, ranging from new modelling strategies for incomplete data (e.g., based
on multiple imputation), over sensitivity analysis, to computational strategies. This will improve the design and conduct
of CTs in RD. T19.3. aligns with GO:1,2; SO:1,4,5; OO:2-5.
T19.4. Non-parametric, pharmacometrics and randomization-based methodology (M1-M84) TL: UKA, UU, APHP;
Contributors: PLUS, UHASSELT. Methods such as generalized pairwise comparisons have been developed for multiple
outcomes, either when a hierarchy in the outcomes is present, or when this is not the case. Their place in the context of
RDs should be carefully considered. On the one hand, they are computationally convenient, on the other, their power
properties need to be examined for a given trial, such as considered within a CRN. Simulation based evaluation, tailored
to the needs of a specific research question, in the context of a specific RD, should be undertaken. Pharmacometrics
models based on nonlinear mixed effects analysis of longitudinal data are particularly suitable for RD, given their ability
of making use of all relevant data in a structure that allows the use of prior
information. T19.4. aligns with GO:2; SO:1,2,4,5; OO:2,3.
Work package WP20 – Education and Training on RD Research
Work Package Number WP20 Lead Beneficiary 26 - EURORDIS
Work Package Name Education and Training on RD Research
Start Month 1 End Month 84
Objectives
To develop a comprehensive programme of education and training on RD research serving the needs across career
stages, the R&I pipeline and multistakeholder communities. Specific objectives: (1) Empower patient representatives to
enable their full-scale involvement into RD research (T20.1); (2) Support the RD-focused career development of young
researchers (T20.1 and T20.4); (3) Empower the RD community for participation in ERDERA and beyond (T20.2 and
T20.3); (4) Enable wide dissemination of education and training into national
systems (T20.2 and T20.3); and (5) Enable continuous identification and fulfilment of novel, arising cutting-edge
education and training needs in tight interaction with all ERDERA workstreams (T20.2.).
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Description
T20.1. Patients and young researchers’ trainings (M1-M84) TL: EURORDIS; Contributors: WDO, DDF, GA UK*,
c4c-S, TEDDY, IMAGINE, LUMC. T20.1. aims to train patients and young researchers about the fundamentals of RD
research. Training topics will be aligned with ERDERA needs and work streams, specifically the CRNs as they constitute
a new component of the RD ecosystem. The core part will rely on the existing EURORDIS Open Academy and will
be a scalable approach of training patients and young researchers through a 3-step programme: i) beginner level, ii)
intermediate level, iii) advanced level. A strong emphasis will be put on mutual learning from patients and researchers.
The training will be delivered through a blended, dynamic, and interactive approach, considering the learning specificities
of each target audience. 2-3000 people a year (30% outside of EU) will be
trained through the beginner level; up to 100 through the intermediate level (specialised pathways, face-to-face) and at
least 30 through the advanced level (online, “Master Classes”). Patient experts participating in ERDERA calls’ evaluation
(WP3-4-5) would have completed at least the first two levels. An annual workshop will also be organized for up to 20
young patients (12-18 years old) building upon EJP RD paediatric trainings. T20.1. aligns with GO:3; SO:3,4; OO:1,3,4.
T20.2. Identification and fulfilment of training needs (M1-M84) TL: VULSK, ASU FC; Contributors: EURORDIS,
FFRD, UCSC. T20.2. aims to ensure a continuous process for identification of education and training needs and to create
a strong basis for the introduction of new trainings. T20.2. aligns with GO:3; SO:4; OO:2,3,4. ST20.2.1 Continuous
identification of training needs (M1-M84) will be performed using different sources: ERDERA workstreams; NMGs
(with WP23); interaction with the global RD ecosystem (with WP25). ST20.2.2 Implementation of novel horizon-
scanning trainings (M13-M84). For novel arising needs, expert-level horizon-scanning trainings will be organized with
the engagement of the most prominent experts in the field. ST20.2.3. Implementation of the train-the-trainer principle
(M1-M84). National training needs will be identified and implemented in collaboration with WP23 applying the train-
the-trainer principle to achieve a “snowball effect”: inclusion and dedicated support for national representatives in
WP20 and implementation of adapted national trainings in WP23. Providers of education and training will define
standardization rules for national training programmes and will support and supervise national trainers. At year 3,
evaluation of the state-of-the-art of the ERDERA research and education programme will be accomplished to inform
further developments.
T20.3. RD research trainings for multistakeholder communities (M1-M84) TL: CNAG, VULSK; Contributors: UT,
SRUMC, UTARTU, TUM, EATRIS, GA UK*, Fraunhofer UK*, ECRIN, SFU, UHASSELT, ISS, LUMC, UMCG,
AUMC, WDO, DDF, UTWENTE. T20.3. aims to equip the RD-research-related multistakeholder community with the
knowledge and skills needed for effective participation in ERDERA activities and beyond. Five subtasks are arranged to
reflect targeted training blocks benefiting the main ERDERA Work streams to empower: (1) RD diagnostic research; (2)
RD clinical research; (3) knowledge on research methodologies; (4) RD clinical trial methodologies and management;
and (5) data research. A graded scalable approach will be implemented: beginner-level (mostly online trainings),
followed by advanced-level, and/or nationally adapted online or face-to-face trainings for selected highly motivated
learners who accomplished the beginner-level trainings and reached a certain level of expertise. Up to several hundreds
of trainees per year will benefit from each beginner-level training and 20-30 selected trainees will be trained on an
advanced course (for each of the 5 training tracks). The most effective training methodologies will be applied and
measures for broad dissemination and inclusion will be invoked (incl. rotation of courses and fellowships for participants
from underrepresented countries). T20.3. aligns with GO:1,2,3; SO:2,3,4,5; OO:2,3,4.
T20.4. European Diploma on RD research (M1-M84) TL: UCSC, IBG; Contributors: c4c-S, ISS, SU, UNIROMA1,
ISCIII, ACU, UCD, RSU, VULSK, SFU. T20.4. aims to establish a higher education program culminating in an academic
diploma with credits, through an inter-university consortium of academic and non-academic partners with track record
in RD training activities. T20.4. aligns with GO:1; SO:4,5; OO:3,4.
ST20.4.1. Establish a cross ERDERA expert consortium and setup of training modules (M1-M12). Multilateral
agreements will be made among academic and non-academic partners and connections with European university
alliances, to ensure policy alignment and improve geographical representation as well as to ensure the smooth integration
of young RD researchers into the EU R&I ecosystem.
ST20.4.2. Pilot program launch (M13-24). This will run as a short-time pilot program (min 10 ECTS).
ST20.4.3. Optimization and scale-up of the program (M25-36). The study plan will be refined and potentially upgraded
to longer-term education programs to address emerging needs and provide recognized diplomas.
ST20.4.4. Running the first systematic EU diploma curriculum (M30-60). Enrolling the first cohort of students, the
curriculum will include a transnational mobility schedule and teaching modules from different partners.
ST20.4.5. Optimization and updating of study plan (M52-M84). Continuing adaptation of the course.
ST20.4.6. Pursue future sustainability of the established curricula (M6-84). Collaboration with stakeholders will be
established to secure the program’s sustainability (incl. opportunities offered through Erasmus Mundus programme).
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Work package WP21 – Technology accelerator
Work Package Number WP21 Lead Beneficiary 28 - UC
Work Package Name Technology accelerator
Start Month 1 End Month 60
Objectives
To increase the success of in vivo ATMP therapies by improving state of the art technologies, processes, standards, and
tools that are critical for efficacious and safe in vivo ATMPs. An open access portfolio of solutions and a network of
expertise will be created in Europe which will decrease the number of therapies that fail in development and contribute
to SO5, delivering new effective therapies for rare diseases approved in the EU and beyond (GO2). This will be achieved
through cost-effective and harmonized AAV gene therapy; advancing RNAs for therapeutics; novel types of RNA
nanoparticles (NP); comparative evaluation of gene editing technologies and delivery in relevant model systems for
RDs; and development of platforms to characterize therapy response.
Description
T21.1. Streamlining chemistry manufacturing and controls in AAV vector production (M1-M60) TL: KU Leuven, UCB*,
GNT. Contributors: VHIR, UC, UAB, INSERM_Target(Nantes), FHG, PEI, UKHD, REI*, Miltenyi*, FDB*, ROCHE*.
Cost-effective and harmonized rAAV gene therapy vector development will be enabled through the development of a
publicly available base manufacturing process to support next generation rAAV development and validation of new
methodologies to ensure high quality and safety of newly
standardized vectors. Fit-for-purpose analytical assays for determining CQA-related rAAV characteristics will be defined
and validated. New technologies to develop more accurate analytical methods will be developed. T21.1. aligns with
GO:2; SO:1,4,5; OO:1,2,5.
T21.2. Advancing RNAs for therapeutics (M1-M60) TL: UC, Pfizer*, FHG. Contributors: INSERM_ART-ARNm,
CHARITE, UEF, PEI, FSJD-CERCA, GNT, RJF*, AZ*, Miltenyi*, HIPRA*, LAB HIPRA*, FDB*. Approaches for
RNA manufacturing will be optimized to advance the state of the art for mRNA therapeutics and ensure higher stability,
translatability, cell-specificity, and lower immunogenicity. This will involve improving RNA design, production and
purification, analytical characterization, and screening of optimal RNA molecules. A head-to-head comparison of RNA
sequences will be conducted in in reporter cell lines to assess and compare the efficacy of selected RNA sequences (e.g.,
delivery of gene editing tools for stable gene therapy and gene replacement). Selected RNAs will be used in subtasks
T21.3 and T21.4. T21.2. aligns with GO:2; SO:1,4,5; OO:1,2,5.
T21.3. Advancing of novel types of mRNA nanoparticles (NP) including LNP, extracellular vesicles (EVs) and
biohybrids (M1-M60) TL: INSERM_ART-ARNm, Pfizer*, CNRS. Contributors: FHG, PEI, UC, CHARITE, CIBER,
VHIR, PLUS, UEF, Miltenyi*, AZ*, RJF*, HIPRA*, LAB HIPRA*, FDB*, ROCHE*. A better mechanistic
understanding of extra and intracellular barriers to mRNA delivery via NP/EVs will allow a more rational design of
novel mRNA formulations, including targeting tissue types along with improved and sustained
release. In accordance, tools to implement formulation design, efficiency, production of standardized protocols will be
developed. Different mRNA formulations will be generated with optimal mRNA structures produced in T21.2 and will
be scaled-up for use for RNA-based gene editing, and evaluation of therapy response. T21.3. aligns with GO:2; SO:1,4;
OO:1,2.
T21.4. Gene editing approaches towards therapy of RDs (M1-M60) TL: OSR, Miltenyi*, IMAGINE. Contributors: UC,
CIBER, GNT, UKLFR, BIU, UAB, FSJD-CERCA, FTELE, AZ*, Pfizer*, FDB*, ROCHE*. Comparison of state-of-
the-art gene editing technologies and capitalize on viral and non-viral gene delivery modalities optimized in T21.1-3 to
develop novel, more effective and safer therapeutic approaches for paradigmatic RDs affecting the blood, the central
nervous system, the striated muscle, the retina, and the liver. We will complement these in vitro and in vivo gene
therapy studies with an in-dept characterization of editing specificity and treatment-related toxicities, including immune
responses and strategies to avoid them (T21.5), thus providing robust pre-clinical packages exploitable for the nomination
of diseases suitable for clinical development. T21.4. aligns with GO:2; SO:1; OO:1.
T21.5. Assessment of therapy response and immunogenicity (M1-M60) TL: CHARITE, Pfizer*; Contributors: CHI,
Miltenyi*, ROCHE*, FSJD-CERCA, UAB, UC, OSR, INSERM_Target(Nantes), AZ*, UCB*. T21.5. aims to develop,
qualify, and validate complex platforms used to characterize and monitor immune reactions directed to the developed
ATMP. In vivo and in vitro tissue model systems will be used to verify the feasibility of test platforms developed.
Mitigation strategies to prevent/overcome unwanted immune response will be developed. T21.5. aligns with GO:2;
SO:1,4; OO:1,2.
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Work package WP22 – Public-Private Collaboration accelerator
Work Package Number WP22 Lead Beneficiary 29 - FFRD
Work Package Name Public-Private Collaboration accelerator
Start Month 1 End Month 84
Objectives
To create and operate an innovation marketplace, supporting and connecting promising RD projects with R&D experts,
patient groups, and public and private investors, to enable further development. WP22 is dedicated to GO2, SO1.
Specifically: (1) Engage third party investors, pharma industry and other funders of innovation; (2) Create workflows
and legal documentation necessary to structurally identify, evaluate and select projects; (3) Support selected projects
to become investment ready through business planning, coaching, nonclinical development, also in collaboration with
other relevant synergistic initiatives; and (5) Actively match projects to external investment opportunities.
Description
T22.1. Setting up the marketplace (M1-M12) TL: ISCIII; Contributors: AFM, EATRIS, FFRD, SRUMC, EURORDIS.
ISCIII will define the process workflows and create the legal documentation (working with RUMC and EATRIS) to
facilitate sharing of information in the accelerator. Of particular importance are confidentiality and conflict of interest
declarations, also with external collaborators. Experts from Expertise Service Hub, as well as external experts, e.g. from
REMEDi4ALL, C-Path and C4C will be utilized as needed. FFRD will liaise with prospective investors and onboard
them (using letters of intent to express interest) into the marketplace. AFM (with input from FFRD and EURORDIS)
will define the project selection process, connecting with WP17 mentoring and consultancy creating workflows to be
able to utilize their expertise, WP4 CRN and WP3 JTC to set up the outreach and project identification process within
JTCs and the CRNs. T22.1. aligns with GO:2; SO:4,5; OO:3,5.
T22.2. Acceleration readiness (M1-M72) TL: AFM; Contributors: EATRIS, FFRD, EURORDIS. During JTC calls,
information sessions will be integrated in the call publication strategy, as well as monitoring process of JTC projects to
ensure all applicants and Principal investigators are fully aware of the requirements for further therapeutic development
and the opportunities provided by the Acceleration Hub, Expertise Hub, and infrastructures. Annual meetings will be
organized in liaison with JTC and monitoring WPs to identify JTC projects with potential for development into new
intervention. Identified projects will then be proposed to enter profiling and development process in the Acceleration
Hub (T22.3). Close collaboration with all WP22 partners will be sought for the selection of projects, with structural
involvement of patient representatives in the selection process. During JTC calls: integrate information sessions in the
monitoring process of JTC projects (and projects from ERA4HEALTH) to ensure investigators are fully aware of the
requirements for further development and the opportunities provided by the Acceleration Hub, Expertise Hub, and
infrastructures. T22.2. aligns with GO:2; SO:1,4; OO:1,3,5.
T22.3. Asset profiling and development (M12-M80) TL: EATRIS; Contributors: AFM, FFRD, EURORDIS, ISCIII.
Selected projects will receive support defining an IPR, exploitation and patient access strategy, designing a critical path
to proof of concept including stage gates and milestones, seeking funding for technical development. Expertise from
CRNs, Consulting and Mentoring WPs will be accessed, as well as other initiatives such as C-Path, C4C, REMEDi4ALL,
EU Lead Factory. It is expected that 5-10 projects per year can be supported,
with first projects receiving support from M18. T22.3. aligns with GO:2; SO:1,4; OO:1,3, 5.
T22.4. Matchmaking and marketing (M18-M84) TL: FFRD; Contributors: AFM, EATRIS. Regular interactions with
pharma and other potential funders will be scheduled to pitch projects and facilitate discussions and negotiations. A
range of different formats will be used including webinars of pitches (presentations + Q/A sessions), networking events,
speed dating events between researchers and funders, and set-up of F2F meetings to discuss potential collaboration.
Coaching of researchers, creation of pitch decks and support in pitching to third party funders, based on the creation of a
grid including key elements such as identified and validated target, PI, mechanism of action and competitive landscape
analysis. Marketing of the accelerator program and the projects in the portfolio will be conducted on an ongoing basis,
with direct outreach to investors. T22.4. aligns with GO:2; SO:1, 4,5; OO:1,3,5.
Work package WP23 – NMGs promotion and national alignment
Work Package Number WP23 Lead Beneficiary 1 - INSERM
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Work Package Name NMGs promotion and national alignment
Start Month 1 End Month 84
Objectives
The main objective of this WP is to ensure the alignment of European and national RD research policies and activities
by supporting the deployment, the operations, and the synergies of and between the National Mirror Groups (NMGs) in
all participating countries. An NMG is a group created – or designated - in each country, benefiting from the ERDERA
to bring together the expertise and knowledge of the RD community of a specific country. The objectives of a NMG are
to identify national needs that should be discussed and addressed, if possible, within the framework of the ERDERA
activities; to coordinate national stakeholders and promote national alignment with the European RD research strategy,
to revitalize the national RD plans/strategies and to collect and share lessons learned and good practices. NMGs will
also be solicited to help with liaising with the national stakeholders, including but not limited to funders, to manage
the lessons learned from the cancer field and organise, when relevant, joint activities (like common or complementary
funding opportunities).
Description
T23.1. Fostering creation of NMGs (M1-M84) TL: INSERM_IT-GGB; Contributors: ISCIII, UNEW*, CCRI GmbH,
UTARTU, IBG, CCUH, INSERM_U974, MUH, TIF, MICYRN*, VULSK, ZonMw, INSA, HRB, MoH SR, RDG, JSI,
UO. T23.1. aligns with GO:1-3, SO:5, OO:3 and will consist of two subtasks.
ST23.1.1. Development of NMG models and guidelines. In the first 4 months of the project, several models of NMGs
will be developed based on the study of the national groups created during EJP RD. These different models, which will
differ in several aspects, will be used on the NMGs development process on the Task 23.1.2.
ST23.1.2. Developing & maintaining NMGs through a national multi-stakeholder engagement. The NMGs will be set
up and supported to organize coordinated interaction between the ERDERA and national and regional stakeholders. To
provide successful action of NMG, financial support will be provided to each NMG.
T23.2. Deployment and operation of NMGs (M1-M84) TL: UNEW*; Contributor: INSERM_IT-GGB, ISCIII, CCRI
GmbH, UTARTU, IBG, CCUH, INSERM_U974, MUH, TIF, MICYRN*, VULSK, ZonMw, INSA, HRB, MoH SR,
RDG, JSI, UO. T23.2. aligns with GO:1-3; SO:4,5; OO:3,4 and will consist of four subtasks.
ST23.2.1. NMG responsibilities. Each NMG should fulfil their responsibilities to ensure optimal collaboration with
ERDERA. Fulfilling responsibilities will help advocate national interests and provide bidirectional information flow
from and to partnership. During the first 3 years of the project, WP leads will support the deployment and operation
of new and existing NMGs. This will include supporting NMGs to develop a three-year plan for their NMG. In the
following four years of the project, NMG leads will continue to maintain and
develop their NMG with support from WP leads.
ST23.2.2. Country-Specific multidirectional Engagement. The WP leads will ensure regular communication with NMG
teams to support them in aligning their national activities with those delivered under the ERDERA. During the first three
years of the project, communication channels will be established WP leads and NMGs, as well between NMGs to support
multi-directional engagement. WP leads will work with other WPs to communicate the sharing of tools, resources and
knowledge developed by other WP to the NMGS.
ST23.2.3. Country Data Collection. A number (minimum one per year) of questionnaires will be designed to collect RD
data on national activities and international collaborations. Outputs will be dedicated to annual reports and guideline
development. This will continue throughout the project.
ST23.2.4. Trainings activities through the ‘Train the trainer model’. A series of training activities for national
stakeholders is planned. This subtask will collaborate with ERDERA Workstream ‘Education & training activities. Each
NMG will identify a national training provider and will be trained on the topic preselected by NMGs. Once trained, they
will then be able to share what they have learned at national level to national stakeholders.
T23.3. Animation of NMGs synergies (M6-M84) TL: UNEW*, CCUH; Contributors: INSERM_IT-GGB, UTARTU,
CCRI GmbH, ISCIII, VULSK, ZonMw, INSA, MICYRN*, INSERM_U974, MUH, TIF, IBG, HRB, MoH SR, RDG,
JSI, UO. T23.3. aligns with GO:1-3; SO:5; OO:3,5 and will consist of three subtasks.
ST23.3.1. Organization of annual meeting of the National Alignment Board (NAB), foreseen back-to-back with the
annual General Assembly. NAB will be composed of Representatives from each NMG and Representatives of the EC
Directorates. During these meetings, NMG leads will share progress on the creation and operations of NMGs, and
steps taken to align national and ERDERA level activity. These meetings will also serve as a basis for writing of best
practice guidelines on NMG creation and promotion in first three years of partnership. During the next four years, the
recommendations for sustainability of NMGs will be developed.
ST23.3.2. Fostering interaction between NMGs, to enhance cross-country collaboration. Three workshops will be
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organized during first three years, followed by four in the last four years, topics of which will be identified during
International NAB meeting, but foreseeably include subjects such as creation/adaptation/federation of national registries
for RD, linking national diagnostics structures with ERDERA resources, optimising clinical trial planning and delivery,
national drug reimbursement programs, NBS etc. During this subtask intensive collaboration and communication in
between various sets of NMGs on monthly or even weekly basis will be coordinated and facilitated using some platform
for example SharePoint.
ST23.3.3. Sharing achievements of NMGs. During the first three years of partnership using the outputs of T23.2.3,
an overview report will be developed every year, arranged by topic (e.g. showcasing the situation and trends around
live national plans for RD, national registries for RD, etc). During the following four years four more reports will be
developed and two peer-reviewed publications in open access journals will be published during project with a purpose
to reach out more health care specialists, for example GPs, clinical specialists, and scientists from other fields.
Work package WP24 – Fostering engagement of underrepresented countries in ERDERA
Work Package Number WP24 Lead Beneficiary 32 - AICIB
Work Package Name Fostering engagement of underrepresented countries in ERDERA
Start Month 1 End Month 84
Objectives
(1) Address specific needs and expectations of underrepresented countries (UCs) in RD; (2) Foster collaboration between
UCs and Research & Innovation (R&I) high performing countries at European and Global level; (3) Boost inclusion of
UCs in ERDERA funded programmes; (4) Promote transversal, coordinated efforts in mapping capabilities and assets,
capacity development, advocacy, awareness-raising, and leveraging the knowledge and experiences of UCs with R&I
high performing countries; (5) Create a more inclusive and impactful R&I ecosystem in RD; and (6) De-emphasize the
inequalities between R&I high and low performing countries and unlock the potential present within UCs and its added
value to the ERDERA.
Description
T24.1. Promoting capacity development actions (M1-M84) TL: VULSK, REUH; Contributors: EURORDIS, IBG,
CVBF, GERAD, UCD. T24.1. aims to (1) Develop a mapping exercise to identify specific needs and expectations,
perceived by UCs as limiting their full integration in RD R&I, aligned with ERDERA workstreams; (2) Assess the
conditions for their full integration across all ERDERA activities (JTCs, CRNs, Acceleration Hub, Data Services Hub,
Support Services), including potential barriers to participation in CTs; (3) Implement knowledge exchange and mutual
learning exercises between UCs (research actors, patient organisations) for comparative assessment and promotion of
activities, at National level, to foster participation in ERDERA. Complementation of efforts for the coordination of the
National Mirror Group representatives; (4) Benchmark high performing countries in R&I to integrate learnings and
expertise; and (5) Develop focused guidelines for potential actions at the National level (e.g., national calls to support
specific lines of research aligned with CRNs objectives). T24.1. aligns with GO:3, SO:4-5.
T24.2. Undertaking advocacy and awareness efforts to UCs added value (M1-M84) TL: FFRD, IBG, CAU; Contributors:
EURORDIS, RSU, RDB. T24.2. aims to (1) Detect latent and unknown RDrelated assets in UCs countries, and additional
patient populations, to convert it into added value for the ERDERA; (2) Implement measures to identify RDs with
particular (geographic) incidence, distinctive critical mass, and infrastructural resources; (3) Establish synergies with
JARDIN, EURORDIS, HNN3.0 (Health NCPs), NFP4EU (Health NFPs), and NCP_WIDERA.NET, to get further
support for the identification of UCs added value; (4) Collaborate with national entities, National Mirror Groups and
scientific societies for the assessment of distinctive features of UCs; (5) Pursuance of advocacy and awareness actions
(to be undertaken with the coordination of ERDERA and of the workstreams) to promote their inclusion in the ERDERA
activities; and (6) Alignment of academic, clinical, and patient organisations, at the national level, and promotion of the
geographical regions (North Africa, Eastern Europe, and Southern Europe countries). T24.2. aligns with GO:3; SO:3,5;
OO:3.
T24.3. Support actions to improve UC participation in all ERDERA activities (M1-M84) TL: AICIB, IMGGE;
Contributors: TUBITAK, RIF, ZonMw, VULSK, EURORDIS, CVBF, HRB. T24.3. aims to (1) Identify actions to
increase the participation of UCs RD community in ERDERA, and of the funds available for both UCs and ERDERA
partners; (2) Develop guidelines for promoting the inclusion of UCs in ERDERA funded actions (e.g., JTCs, Networking
Calls, and others) in coordination with the WS Leads; (3) Propose new measures to increase UCs participation using
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the outputs of the mapping of needs, lessons learnt from EJPRD, EURORDIS surveys, and other relevant initiatives;
(4) Establish baseline figures, and proposal of targets for levels of participation in these activities; (5) Analysis and
adaptation of measures and guidelines used in the Widening programmes (e.g., Twinning, Excellence Hubs, Hop-on), and
their application to ERDERA activities (when appropriate); and (5) Exploitation of access to additional financial support
(e.g. EU Widening programmes, structural funds) to increase UCs participation in ERDERA and leverage available
funds, and propose measures to be implemented (also to be highlighted to the National Mirror Groups). T24.3. aligns
with GO:3; SO:5.
Work package WP25 – ERDERA Global Collaborations
Work Package Number WP25 Lead Beneficiary 7 - ZonMw
Work Package Name ERDERA Global Collaborations
Start Month 1 End Month 84
Objectives
To establish international partnerships that will benefit ERDERA and promote sharing of resources, expertise, and
research findings which will address issues of resource fragmentation, harness collective knowledge and expertise, and
facilitate exchange of information and data, ultimately leading to improved diagnosis and the development of new and
innovative treatments for RDs.
Description
T25.1. Strategic Alliances (M1-M84) TL: INSERM_IT-GGB, SU, ZonMw; Contributors: RCC*, CIHR*, RDI,
EURORDIS, FFRD, ISCIII, AICIB, CAU, AUMC, ASU-FC, HSJD. In collaboration with WP1 and other ERDERA
WPs, T25.1. aims to foster effective international collaboration and maximize outreach of the results of ERDERA
through strategic alliances. T25.1. will be subdivided in four subtasks. INSERM_IT-GGB and Sorbonne University will
start in parallel the mapping of potential international strategic alliances encompassing universities, programs, projects
(including EJP RD and ERDERA funded projects), and initiatives that have not yet been identified in the SRIA/EJP RD/
concept Partnership. Recommendations from IRDiRC members will be sought to augment this process. Following this
initial mapping, a dedicated Working Group composed of contributors, and ERDERA partners will further develop the
collated list of identified international strategic partners and will facilitate partner matchmaking by identifying the
specific topics and opportunities for collaboration across different ERDERA WPs. Throughout the duration of ERDERA,
regular virtual meetings will be organised to discuss progress, share updates and outcomes, and address any challenges
or opportunities that may arise during the existence of ERDERA. The identification of additional strategic partners and
opportunities will be continuously performed and in collaboration with WP1, a sustainability plan of the established
partnerships will be developed. T25.1. aligns with GO:1-3; SO:4,5; OO:2,3,5.
T25.2 Support to IRDiRC Scientific Secretariat (M1-M84) TL: FFRD; Contributors: TEAMIT. FFRD will secure the
IRDiRC Scientific Secretariat (SciSec), which plays a vital role in the day-to-day operations and management of the
IRDiRC Consortium. As key administrative and scientific support unit, SciSec ensures the fulfilment of IRDiRC's needs
and requests, assisting various bodies such as the Consortium Assembly, Constituent Committees, Scientific Committees,
Operating Committee, Task Forces, and Working Groups, optimizing their complementary activities. SciSec will
continue to organize and coordinate Consortium Assembly in-person and online meetings, including joint meetings
with Scientific Committees, Task Force workshops, and IRDiRC Congress. SciSec will coordinate the Consortium’s
communication activities and delivers comprehensive meeting reports that capture the outcomes and discussions of
these events and activities, including participation in the writing of white paper/recommendations of IRDiRC Task
Forces. To ensure liaison between ERDERA and IRDiRC stakeholders, SciSec members will present IRDiRC updates to
ERDERA Executive Committee and organize dedicated IRDiRC sessions during ERDERA General Assembly meetings.
In addition, ERDERA beneficiaries' involvement in IRDiRC activities will be promoted, and the IRDiRC Chair and
Vice-Chair will be invited to join the ERDERA MAB. T25.2. aligns with GO:1-3; SO:4-5; OO:3,5.
T25.3. Promote the International Dimension of the CRN of ERDERA by building global networks among CRNs and
patient organizations (M1-M84) TL: RDI, INSERM_IT-GGB; Contributors: AICIB, AUMC, c4c-S, UKHD, UT, CHEO-
RI*, RCC*. T25.3. aims to perform networking, matchmaking, and identifying similar initiatives as the CRNs, that exist
in other geographies. In collaboration with the Workstream on CRN, international CRN conferences will be organised
to facilitate networking between various international CRNs, jointly organized with IRDiRC, RDI, and ERDERA. The
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conferences will be organised on biannual basis and may be organised in conjunction with the IRDiRC-ERDERA
Congress. T25.3. aligns with GO:2,3; SO:3-5; OO:2,3,5.
T25.4 Alignment with the Research strategies of the European Reference Networks (M1-M84) TL: ASU-FC, HSJD;
Contributor: IOR. T25.4 aims to align research strategies within the ERNs and with ERDERA. A platform "ERNs
Living Lab" will be created to foster new cross-fertilising communication and avenues across ERNs and stakeholders
to accelerate patient-relevant advancements and discuss the alignment of research strategies and implementation of the
acquired knowledge in activities of ERDERA and beyond. T25.4. aligns with GO:3;
SO:1,4,5; OO:3-5.
Work package WP26 – Ethics requirements
Work Package Number WP26 Lead Beneficiary 1 - INSERM
Work Package Name Ethics requirements
Start Month 1 End Month 84
Objectives
The objective is to ensure compliance with the 'ethics requirements' set out in this work package.
Description
This work package sets out the 'ethics requirements' that the project must comply with.
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STAFF EFFORT
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP1 WP2 WP3 WP4 WP5 WP6 WP7 WP8 WP9 WP10 Total Person-Months
1 - INSERM 288.00 125.00 12.00 6.00 828.00
1.1 - CAD 6.00 22.00 72.00
2 - TEAMIT 36.00 72.00 126.00
3 - DLR 3.00 20.00 8.00 31.00
4 - ANR 3.00 19.00 1.00 23.00
5 - FTELE 2.00 17.00 66.00
6 - LMT 2.00 4.00 6.00
7 - ZonMw 3.00 6.00 10.00 44.00
8 - UT 78.00 66.00 33.00 57.00 30.00 300.00
9 - UTARTU 42.00 56.00
10 - CNAG 72.00 105.00 6.00 278.00
11 - SRUMC 6.00 153.00 121.00 34.00 356.00
12 - TUM 6.00 76.00 84.00
13 - UKHD 152.00 76.00 279.00
14 - C-PATH 80.00 107.00
15 - VHIR 27.00 76.00 134.00
16 - LUMC 6.00 27.00 118.00
17 - UTWENTE 38.00
18 - UPM 27.00 28.00 149.00
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Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP1 WP2 WP3 WP4 WP5 WP6 WP7 WP8 WP9 WP10 Total Person-Months
19 - UMCG 29.00 15.00 166.00
20 - AUMC 3.00 67.00
21 - UM 36.00
22 - EATRIS 86.00
23 - FGB 36.00 2.00 93.00
24 - APHP 6.00 89.00 42.00 169.00
25 - UHASSELT 35.00
26 - EURORDIS 12.00 3.00 1.00 8.00 124.00
27 - VULSK 3.00 6.00 18.00 100.00
28 - UC 57.00
29 - FFRD 5.00 2.00 146.00
30 - AFM 8.00 44.00
31 - CCUH 30.00
32 - AICIB 3.00 23.00
33 - IMGGE 15.00
34 - RDI 5.00 2.00 19.00
35 - ACU 2.00
36 - AIT 23.00
37 - AMU 12.00 26.00
38 - AOU Meyer IRCCS 9.00 9.00
39 - ASU-FC 35.00
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Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP1 WP2 WP3 WP4 WP5 WP6 WP7 WP8 WP9 WP10 Total Person-Months
40 - BIU 3.00
42 - CCRI GmbH 6.00 18.00 36.00
43 - CENTOGENE 7.00 11.00 18.00
44 - CHARITE 61.00
45 - CHI 20.00
46 - CHU Dijon 9.00 18.00 27.00
47 - CE 54.00 54.00
48 - REGIONH 6.00 12.00 18.00
49 - CSO-MOH 18.00 2.00 1.00 21.00
50 - CVBF 18.00 2.00 31.00
51 - DDF 26.00 44.00
53 - Erasmus MC 9.00 15.00 44.00 68.00
54 - F.R.S.-FNRS 2.00 2.00
55 - FHG 62.00
56 - FRRB 2.00 2.00
57 - ECRIN 5.00
58 - FWF 2.00 2.00
59 - IFD 2.00 2.00
60 - FSJD-CERCA 23.00
61 - FCT 2.00 2.00
62.1 - AZV 2.00 2.00
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Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP1 WP2 WP3 WP4 WP5 WP6 WP7 WP8 WP9 WP10 Total Person-Months
63 - GNT 102.00
64 - GERAD 5.00
65 - RS 3.00 1.00 4.00
66 - GUF 11.00
67 - HRB 2.00 18.00
68 - İBG 6.00 7.00 6.00 56.00
69 - Rannis 2.00 2.00
70 - IMAGINE 12.00 49.00
71 - IGC PAN 6.00 6.00
72 - ISCIII 17.00 36.00 76.00
73 - INSA 12.00
74 - IOR 3.00
75 - ISS 11.00
76 - IT-MOH 2.00 2.00
77 - KU Leuven 6.00 10.00 53.00
78 - LZP 2.00 2.00
79 - MRT 27.00
80 - MUS 6.00 6.00
81 - MUH 6.00 18.00 36.00
82 - MUR 2.00 2.00
83 - NCBR 2.00 2.00
49
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP1 WP2 WP3 WP4 WP5 WP6 WP7 WP8 WP9 WP10 Total Person-Months
84 - NKUA 6.00 6.00
85 - MoH SR 12.00
86 - RDG 8.00
87 - REGIONSYD 18.00 18.00
88 - OPBG 9.00 12.00 21.00
89 - OSR 43.00
90 - JSI 8.00
91 - RCN 2.00 2.00
92 - FWO 2.00 2.00
93 - REUH 9.00 21.00
94 - RIF 2.00 6.00
95 - RCSI 9.00 9.00
96 - RSU 5.00
97 - Sciensano 30.00 18.00 48.00
98 - SPW 2.00 2.00
99 - SFU 26.00
100 - ETAg 2.00 2.00
101 - SAS 2.00 2.00
102 - Sonio 27.00
103 - MOSAE 2.00 2.00
104 - SRC 2.00 2.00
50
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP1 WP2 WP3 WP4 WP5 WP6 WP7 WP8 WP9 WP10 Total Person-Months
105 - TEDDY 6.00
106 - TEKKARE 66.00 66.00
107 - TIF 12.00
108 - TUBITAK 2.00 6.00
109 - RT (TuscReg) 3.00 3.00
110 - UAB 20.00
111 - UCD 7.00
112 - UCSC 16.00
113 - UEF 27.00
114 - UKA 22.00
115 - UKLFR 30.00 38.00
116 - UNICAMPANIA 9.00 9.00
117 - UoC 6.00 6.00
118 - UGENT 6.00 18.00 24.00
119 - UKCL 9.00 9.00
120 - WDO 5.00 1.00 3.00 1.00 2.00 21.00
121 - UU 18.00 62.00
122 - c4c-S 10.00
123 - CAU 8.00
124 - CNRS 20.00
125 - CIBER 9.00 27.00
51
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP1 WP2 WP3 WP4 WP5 WP6 WP7 WP8 WP9 WP10 Total Person-Months
126 - UEFISCDI 2.00 2.00
127 - UNIROMA1 9.00
128 - UANTWERPEN 6.00 6.00
129 - BNSF 2.00 2.00
130 - Aalborg UH 6.00 6.00
131 - RDB 3.00
132 - BBMRI-ERIC 8.00
133 - AarhusUH 9.00 9.00
134 - IABS-EU 12.00
135 - HRCI 5.00 5.00
136.1 - KUM 33.00 8.00 41.00
137 - MSW 38.00 38.00
138 - FNR 2.00 2.00
139 - NKFIH 2.00 2.00
140 - PEI 36.00
141 - PLUS 37.00
142 - SU 3.00
143 - UNISI 9.00 9.00
144 - Vinnova 2.00 2.00
145 - CRG-CERCA 15.00 18.00
146 - GMS-RS 3.00 1.00 4.00
52
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP1 WP2 WP3 WP4 WP5 WP6 WP7 WP8 WP9 WP10 Total Person-Months
147 - VIB 3.00 3.00
148 - IPG 6.00 6.00
149 - UO 6.00 6.00
150 - HSJD 7.00
Total Person-Months 607.00 72.00 132.00 28.00 22.00 614.00 490.00 347.00 633.00 336.00 6355.00
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP11 WP12 WP13 WP14 WP15 WP16 WP17 WP18 WP19 WP20 Total Person-Months
1 - INSERM 84.00 40.00 86.00 23.00 828.00
1.1 - CAD 44.00 72.00
2 - TEAMIT 126.00
3 - DLR 31.00
4 - ANR 23.00
5 - FTELE 36.00 66.00
6 - LMT 6.00
7 - ZonMw 44.00
8 - UT 30.00 6.00 300.00
9 - UTARTU 2.00 56.00
10 - CNAG 5.00 41.00 27.00 22.00 278.00
11 - SRUMC 16.00 15.00 8.00 356.00
53
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP11 WP12 WP13 WP14 WP15 WP16 WP17 WP18 WP19 WP20 Total Person-Months
12 - TUM 2.00 84.00
13 - UKHD 18.00 30.00 279.00
14 - C-PATH 27.00 107.00
15 - VHIR 18.00 134.00
16 - LUMC 22.00 31.00 25.00 5.00 2.00 118.00
17 - UTWENTE 26.00 10.00 2.00 38.00
18 - UPM 32.00 37.00 25.00 149.00
19 - UMCG 32.00 10.00 78.00 2.00 166.00
20 - AUMC 18.00 15.00 28.00 2.00 67.00
21 - UM 36.00 36.00
22 - EATRIS 15.00 26.00 9.00 86.00
23 - FGB 5.00 50.00 93.00
24 - APHP 32.00 169.00
25 - UHASSELT 32.00 3.00 35.00
26 - EURORDIS 18.00 64.00 124.00
27 - VULSK 46.00 100.00
28 - UC 57.00
29 - FFRD 6.00 146.00
30 - AFM 44.00
31 - CCUH 30.00
32 - AICIB 23.00
54
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP11 WP12 WP13 WP14 WP15 WP16 WP17 WP18 WP19 WP20 Total Person-Months
33 - IMGGE 15.00
34 - RDI 19.00
35 - ACU 2.00 2.00
36 - AIT 16.00 7.00 23.00
37 - AMU 14.00 26.00
38 - AOU Meyer IRCCS 9.00
39 - ASU-FC 25.00 35.00
40 - BIU 3.00
42 - CCRI GmbH 36.00
43 - CENTOGENE 18.00
44 - CHARITE 61.00
45 - CHI 20.00
46 - CHU Dijon 27.00
47 - CE 54.00
48 - REGIONH 18.00
49 - CSO-MOH 21.00
50 - CVBF 6.00 31.00
51 - DDF 12.00 6.00 44.00
53 - Erasmus MC 68.00
54 - F.R.S.-FNRS 2.00
55 - FHG 62.00
55
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP11 WP12 WP13 WP14 WP15 WP16 WP17 WP18 WP19 WP20 Total Person-Months
56 - FRRB 2.00
57 - ECRIN 5.00 5.00
58 - FWF 2.00
59 - IFD 2.00
60 - FSJD-CERCA 23.00
61 - FCT 2.00
62.1 - AZV 2.00
63 - GNT 48.00 102.00
64 - GERAD 5.00
65 - RS 4.00
66 - GUF 11.00 11.00
67 - HRB 18.00
68 - İBG 13.00 56.00
69 - Rannis 2.00
70 - IMAGINE 14.00 3.00 49.00
71 - IGC PAN 6.00
72 - ISCIII 2.00 76.00
73 - INSA 12.00
74 - IOR 3.00
75 - ISS 2.00 9.00 11.00
76 - IT-MOH 2.00
56
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP11 WP12 WP13 WP14 WP15 WP16 WP17 WP18 WP19 WP20 Total Person-Months
77 - KU Leuven 53.00
78 - LZP 2.00
79 - MRT 27.00 27.00
80 - MUS 6.00
81 - MUH 36.00
82 - MUR 2.00
83 - NCBR 2.00
84 - NKUA 6.00
85 - MoH SR 12.00
86 - RDG 8.00
87 - REGIONSYD 18.00
88 - OPBG 21.00
89 - OSR 43.00
90 - JSI 8.00
91 - RCN 2.00
92 - FWO 2.00
93 - REUH 21.00
94 - RIF 6.00
95 - RCSI 9.00
96 - RSU 2.00 5.00
97 - Sciensano 48.00
57
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP11 WP12 WP13 WP14 WP15 WP16 WP17 WP18 WP19 WP20 Total Person-Months
98 - SPW 2.00
99 - SFU 5.00 21.00 26.00
100 - ETAg 2.00
101 - SAS 2.00
102 - Sonio 27.00 27.00
103 - MOSAE 2.00
104 - SRC 2.00
105 - TEDDY 6.00 6.00
106 - TEKKARE 66.00
107 - TIF 12.00
108 - TUBITAK 6.00
109 - RT (TuscReg) 3.00
110 - UAB 20.00
111 - UCD 2.00 7.00
112 - UCSC 16.00 16.00
113 - UEF 27.00
114 - UKA 22.00 22.00
115 - UKLFR 38.00
116 - UNICAMPANIA 9.00
117 - UoC 6.00
118 - UGENT 24.00
58
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP11 WP12 WP13 WP14 WP15 WP16 WP17 WP18 WP19 WP20 Total Person-Months
119 - UKCL 9.00
120 - WDO 9.00 21.00
121 - UU 22.00 22.00 62.00
122 - c4c-S 10.00 10.00
123 - CAU 8.00
124 - CNRS 20.00
125 - CIBER 27.00
126 - UEFISCDI 2.00
127 - UNIROMA1 9.00 9.00
128 - UANTWERPEN 6.00
129 - BNSF 2.00
130 - Aalborg UH 6.00
131 - RDB 3.00
132 - BBMRI-ERIC 8.00 8.00
133 - AarhusUH 9.00
134 - IABS-EU 12.00 12.00
135 - HRCI 5.00
136.1 - KUM 41.00
137 - MSW 38.00
138 - FNR 2.00
139 - NKFIH 2.00
59
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP11 WP12 WP13 WP14 WP15 WP16 WP17 WP18 WP19 WP20 Total Person-Months
140 - PEI 36.00
141 - PLUS 22.00 37.00
142 - SU 2.00 3.00
143 - UNISI 9.00
144 - Vinnova 2.00
145 - CRG-CERCA 3.00 18.00
146 - GMS-RS 4.00
147 - VIB 3.00
148 - IPG 6.00
149 - UO 6.00
150 - HSJD 7.00
Total Person-Months 210.00 82.00 230.00 168.00 224.00 250.00 38.00 88.00 158.00 318.00 6355.00
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP21 WP22 WP23 WP24 WP25 WP26 Total Person-Months
1 - INSERM 12.00 152.00 828.00
1.1 - CAD 72.00
2 - TEAMIT 18.00 126.00
3 - DLR 31.00
4 - ANR 23.00
60
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP21 WP22 WP23 WP24 WP25 WP26 Total Person-Months
5 - FTELE 11.00 66.00
6 - LMT 6.00
7 - ZonMw 12.00 4.00 9.00 44.00
8 - UT 300.00
9 - UTARTU 12.00 56.00
10 - CNAG 278.00
11 - SRUMC 3.00 356.00
12 - TUM 84.00
13 - UKHD 3.00 279.00
14 - C-PATH 107.00
15 - VHIR 13.00 134.00
16 - LUMC 118.00
17 - UTWENTE 38.00
18 - UPM 149.00
19 - UMCG 166.00
20 - AUMC 1.00 67.00
21 - UM 36.00
22 - EATRIS 36.00 86.00
23 - FGB 93.00
24 - APHP 169.00
25 - UHASSELT 35.00
61
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP21 WP22 WP23 WP24 WP25 WP26 Total Person-Months
26 - EURORDIS 6.00 11.00 1.00 124.00
27 - VULSK 12.00 15.00 100.00
28 - UC 57.00 57.00
29 - FFRD 36.00 7.00 90.00 146.00
30 - AFM 36.00 44.00
31 - CCUH 30.00 30.00
32 - AICIB 19.00 1.00 23.00
33 - IMGGE 15.00 15.00
34 - RDI 12.00 19.00
35 - ACU 2.00
36 - AIT 23.00
37 - AMU 26.00
38 - AOU Meyer IRCCS 9.00
39 - ASU-FC 10.00 35.00
40 - BIU 3.00 3.00
42 - CCRI GmbH 12.00 36.00
43 - CENTOGENE 18.00
44 - CHARITE 61.00 61.00
45 - CHI 20.00 20.00
46 - CHU Dijon 27.00
47 - CE 54.00
62
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP21 WP22 WP23 WP24 WP25 WP26 Total Person-Months
48 - REGIONH 18.00
49 - CSO-MOH 21.00
50 - CVBF 5.00 31.00
51 - DDF 44.00
53 - Erasmus MC 68.00
54 - F.R.S.-FNRS 2.00
55 - FHG 62.00 62.00
56 - FRRB 2.00
57 - ECRIN 5.00
58 - FWF 2.00
59 - IFD 2.00
60 - FSJD-CERCA 23.00 23.00
61 - FCT 2.00
62.1 - AZV 2.00
63 - GNT 54.00 102.00
64 - GERAD 5.00 5.00
65 - RS 4.00
66 - GUF 11.00
67 - HRB 12.00 4.00 18.00
68 - İBG 12.00 12.00 56.00
69 - Rannis 2.00
63
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP21 WP22 WP23 WP24 WP25 WP26 Total Person-Months
70 - IMAGINE 20.00 49.00
71 - IGC PAN 6.00
72 - ISCIII 8.00 12.00 1.00 76.00
73 - INSA 12.00 12.00
74 - IOR 3.00 3.00
75 - ISS 11.00
76 - IT-MOH 2.00
77 - KU Leuven 37.00 53.00
78 - LZP 2.00
79 - MRT 27.00
80 - MUS 6.00
81 - MUH 12.00 36.00
82 - MUR 2.00
83 - NCBR 2.00
84 - NKUA 6.00
85 - MoH SR 12.00 12.00
86 - RDG 8.00 8.00
87 - REGIONSYD 18.00
88 - OPBG 21.00
89 - OSR 43.00 43.00
90 - JSI 8.00 8.00
64
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP21 WP22 WP23 WP24 WP25 WP26 Total Person-Months
91 - RCN 2.00
92 - FWO 2.00
93 - REUH 12.00 21.00
94 - RIF 4.00 6.00
95 - RCSI 9.00
96 - RSU 3.00 5.00
97 - Sciensano 48.00
98 - SPW 2.00
99 - SFU 26.00
100 - ETAg 2.00
101 - SAS 2.00
102 - Sonio 27.00
103 - MOSAE 2.00
104 - SRC 2.00
105 - TEDDY 6.00
106 - TEKKARE 66.00
107 - TIF 12.00 12.00
108 - TUBITAK 4.00 6.00
109 - RT (TuscReg) 3.00
110 - UAB 20.00 20.00
111 - UCD 5.00 7.00
65
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP21 WP22 WP23 WP24 WP25 WP26 Total Person-Months
112 - UCSC 16.00
113 - UEF 27.00 27.00
114 - UKA 22.00
115 - UKLFR 8.00 38.00
116 - UNICAMPANIA 9.00
117 - UoC 6.00
118 - UGENT 24.00
119 - UKCL 9.00
120 - WDO 21.00
121 - UU 62.00
122 - c4c-S 10.00
123 - CAU 7.00 1.00 8.00
124 - CNRS 20.00 20.00
125 - CIBER 18.00 27.00
126 - UEFISCDI 2.00
127 - UNIROMA1 9.00
128 - UANTWERPEN 6.00
129 - BNSF 2.00
130 - Aalborg UH 6.00
131 - RDB 3.00 3.00
132 - BBMRI-ERIC 8.00
66
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Staff effort per participant
Grant Preparation (Work packages - Effort screen) — Enter the info.
Participant WP21 WP22 WP23 WP24 WP25 WP26 Total Person-Months
133 - AarhusUH 9.00
134 - IABS-EU 12.00
135 - HRCI 5.00
136.1 - KUM 41.00
137 - MSW 38.00
138 - FNR 2.00
139 - NKFIH 2.00
140 - PEI 36.00 36.00
141 - PLUS 15.00 37.00
142 - SU 1.00 3.00
143 - UNISI 9.00
144 - Vinnova 2.00
145 - CRG-CERCA 18.00
146 - GMS-RS 4.00
147 - VIB 3.00
148 - IPG 6.00
149 - UO 6.00
150 - HSJD 7.00 7.00
Total Person-Months 563.00 125.00 330.00 135.00 155.00 0.00 6355.00
67
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
LIST OF DELIVERABLES
Deliverables
Grant Preparation (Deliverables screen) — Enter the info.
The labels used mean:
Public — fully open ( automatically posted online)
Sensitive — limited under the conditions of the Grant Agreement
EU classified —RESTREINT-UE/EU-RESTRICTED, CONFIDENTIEL-UE/EU-CONFIDENTIAL, SECRET-UE/EU-SECRET under Decision 2015/444
Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D1.1 Data Management Plan WP1 1 - INSERM R — Document, report SEN - Sensitive 6
D1.2 Annual Work Plan Y2 WP1 1 - INSERM R — Document, report SEN - Sensitive 9
D1.3 Annual Work Plan Y3 WP1 1 - INSERM R — Document, report SEN - Sensitive 21
D1.4 Annual Work Plan Y4 WP1 1 - INSERM R — Document, report SEN - Sensitive 33
D1.5 Annual Work Plan Y5 WP1 1 - INSERM R — Document, report SEN - Sensitive 45
D1.6 Annual Work Plan Y6 WP1 1 - INSERM R — Document, report SEN - Sensitive 57
D1.7 Annual Work Plan Y7 WP1 1 - INSERM R — Document, report SEN - Sensitive 69
D1.8 Periodic Progress Report 1 WP1 1 - INSERM R — Document, report SEN - Sensitive 26
D1.9 Periodic Progress Report 2 WP1 1 - INSERM R — Document, report SEN - Sensitive 44
D1.10 Periodic Progress Report 3 WP1 1 - INSERM R — Document, report SEN - Sensitive 62
D1.11 Periodic Progress Report 4 WP1 1 - INSERM R — Document, report SEN - Sensitive 74
D1.12 Periodic Progress Report 5 WP1 1 - INSERM R — Document, report SEN - Sensitive 84
D1.13 RDP SRIA Update WP1 1 - INSERM R — Document, report PU - Public 36
D1.14 Report on cumulative expenditure incurred WP1 1 - INSERM R — Document, report SEN - Sensitive 12
68
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverables
Grant Preparation (Deliverables screen) — Enter the info.
The labels used mean:
Public — fully open ( automatically posted online)
Sensitive — limited under the conditions of the Grant Agreement
EU classified —RESTREINT-UE/EU-RESTRICTED, CONFIDENTIEL-UE/EU-CONFIDENTIAL, SECRET-UE/EU-SECRET under Decision 2015/444
Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D2.1 Project website WP2 2 - TEAMIT DEC —Websites, patent PU - Public 3
filings, videos, etc
D2.2 Communication and dissemination strategy WP2 2 - TEAMIT R — Document, report SEN - Sensitive 6
D3.1 Joint Transnational Call documents 1 WP3 3 - DLR R — Document, report SEN - Sensitive 3
D3.2 Joint Transnational Call documents 2 WP3 3 - DLR R — Document, report SEN - Sensitive 15
D3.3 Joint Transnational Call documents 3 WP3 3 - DLR R — Document, report SEN - Sensitive 27
D3.4 Joint Transnational Call documents 4 WP3 3 - DLR R — Document, report SEN - Sensitive 39
D3.5 Joint Transnational Call documents 5 WP3 3 - DLR R — Document, report SEN - Sensitive 51
D3.6 Joint Transnational Call documents 6 WP3 3 - DLR R — Document, report SEN - Sensitive 63
D3.7 Joint Transnational Call documents 7 WP3 3 - DLR R — Document, report SEN - Sensitive 75
D3.8 Evaluation Report of the JTCs 1 WP3 3 - DLR R — Document, report SEN - Sensitive 15
D3.9 Evaluation Report of the JTCs 2 WP3 3 - DLR R — Document, report SEN - Sensitive 27
D3.10 Evaluation Report of the JTCs 3 WP3 3 - DLR R — Document, report SEN - Sensitive 39
D3.11 Evaluation Report of the JTCs 4 WP3 3 - DLR R — Document, report SEN - Sensitive 51
D3.12 Evaluation Report of the JTCs 5 WP3 3 - DLR R — Document, report SEN - Sensitive 63
D3.13 Evaluation Report of the JTCs 6 WP3 3 - DLR R — Document, report SEN - Sensitive 75
D3.14 Evaluation Report of the JTCs 7 WP3 3 - DLR R — Document, report SEN - Sensitive 84
69
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverables
Grant Preparation (Deliverables screen) — Enter the info.
The labels used mean:
Public — fully open ( automatically posted online)
Sensitive — limited under the conditions of the Grant Agreement
EU classified —RESTREINT-UE/EU-RESTRICTED, CONFIDENTIEL-UE/EU-CONFIDENTIAL, SECRET-UE/EU-SECRET under Decision 2015/444
Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D4.1 Clinical Trial Call documents WP4 5 - FTELE R — Document, report PU - Public 18
D4.2 Evaluation Report of the Clinical Trial Call WP4 5 - FTELE R — Document, report SEN - Sensitive 36
D5.1 NSS Call documents WP5 7 - ZonMw R — Document, report SEN - Sensitive 9
D5.2 List of funded networks 1 WP5 7 - ZonMw R — Document, report PU - Public 36
D5.3 List of funded networks 2 WP5 7 - ZonMw R — Document, report PU - Public 84
D6.1 Roadmap for genomic federated data WP6 8 - UT R — Document, report PU - Public 6
analysis approach
D6.2 Research dataset on returned diagnostic WP6 8 - UT R — Document, report PU - Public 36
results 1
D6.3 Research dataset on returned diagnostic WP6 8 - UT R — Document, report PU - Public 84
results 2
D7.1 Coordinated re-analysis diagnostic pipeline WP7 10 - CNAG R — Document, report PU - Public 12
D7.2 Best practice guidelines for diagnostic re- WP7 77 - KU Leuven R — Document, report PU - Public 30
analysis & reinterpretation strategies
D8.1 Software for long-read pipelines optimized WP8 11 - SRUMC OTHER PU - Public 36
for RD diagnoses
D8.2 Software update for integrated DNARNA WP8 12 - TUM OTHER PU - Public 24
pipeline optimized for RD discoveries 1
70
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
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Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D8.3 Software update for integrated DNARNA WP8 12 - TUM OTHER PU - Public 60
pipeline optimized for RD discoveries 2
D8.4 Software for multi-omics pipeline optimized WP8 37 - AMU OTHER PU - Public 36
for RD discoveries 1
D8.5 Software for multi-omics pipeline optimized WP8 37 - AMU OTHER PU - Public 72
for RD discoveries 2
D9.1 Regulatory grade cohort Inventory WP9 136 - LMU R — Document, report PU - Public 36
D9.2 Individual disease progression models WP9 8 - UT R — Document, report PU - Public 36
D9.3 Drug Development Tools WP9 14 - C-PATH R — Document, report PU - Public 72
D10.1 Disease burden and cost of illness WP10 97 - Sciensano R — Document, report PU - Public 36
framework for RDs
D10.2 Platform for development of regulatorygrade WP10 13 - UKHD R — Document, report PU - Public 84
patient-relevant COAs in RD
D10.3 Toolbox on collection of patient selfreported WP10 15 - VHIR R — Document, report PU - Public 84
data
D11.1 Result of the PoC studies for ATMP WP11 1 - INSERM DEM — Demonstrator, SEN - Sensitive 60
technologies pilot, prototype
D11.2 ATMP technology Platform validated in WP11 5 - FTELE DEM — Demonstrator, PU - Public 84
clinical context pilot, prototype
71
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
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Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D12.1 Assessment criteria for patient eligibility to WP12 16 - LUMC R — Document, report SEN - Sensitive 36
individualised ASO treatment
D12.2 Toolkit on outcome measures for N-of- 1 WP12 8 - UT DEC —Websites, patent PU - Public 56
filings, videos, etc
D12.3 Standardized platform for timely WP12 16 - LUMC DEM — Demonstrator, PU - Public 84
development of ASO individualized pilot, prototype
treatments
D13.1 VP specifications and documentation 1 WP13 1 - INSERM R — Document, report PU - Public 12
D13.2 VP specifications and documentation 2 WP13 1 - INSERM R — Document, report PU - Public 36
D13.3 VP specifications and documentation 3 WP13 1 - INSERM R — Document, report PU - Public 84
D14.1 Data Stewardship Wizard with the WP14 16 - LUMC OTHER PU - Public 12
compilation of data models and data
preparation workflows 1
D14.2 Data Stewardship Wizard with the WP14 16 - LUMC OTHER PU - Public 36
compilation of data models and data
preparation workflows 2
D14.3 Data Stewardship Wizard with the WP14 16 - LUMC OTHER PU - Public 84
compilation of data models and data
preparation workflows 3
72
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
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Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D15.1 Portfolio of ERDERA large scale analysis WP15 19 - UMCG DEC —Websites, patent PU - Public 12
services and pipelines filings, videos, etc
D15.2 Portfolio of ERDERA federated analysis WP15 18 - UPM DEC —Websites, patent PU - Public 24
methods and services filings, videos, etc
D15.3 Technical guidelines for the implementation WP15 10 - CNAG OTHER PU - Public 30
of services used in the use cases on federated
analysis
D16.1 First standard application of WP16 21 - UM DEM — Demonstrator, PU - Public 36
multidimensional knowledge networks (RD pilot, prototype
maps) addressing an RD case
D16.2 First version of ontologies (antenatal WP16 1 - INSERM DEM — Demonstrator, PU - Public 36
phenotypes and functional impacts) pilot, prototype
integrated with ORDO
D16.3 Treatabolome demonstrator WP16 1 - INSERM DEM — Demonstrator, PU - Public 72
pilot, prototype
D16.4 Knowledge bases and ontologies for PROM/ WP16 1 - INSERM DEM — Demonstrator, PU - Public 84
PCOM, disabilities and Treatabolome pilot, prototype
D17.1 Recommendations to funders on addressing WP17 22 - EATRIS R — Document, report SEN - Sensitive 36
translatability of projects through funding
opportunities
73
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
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Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D17.2 Result of feasibility study for consultancy- WP17 23 - FGB R — Document, report SEN - Sensitive 36
based expertise services
D17.3 Final report of the mentoring services WP17 22 - EATRIS R — Document, report SEN - Sensitive 84
activity
D18.1 Set of regulatory recommendations for WP18 23 - FGB R — Document, report SEN - Sensitive 6
CRNs
D18.2 Set of Regulatory support tools for WP18 22 - EATRIS R — Document, report PU - Public 36
preclinical development to facilitate
regulatory filings and convergence for RD
D18.3 Roadmap for physical and written standards WP18 22 - EATRIS R — Document, report SEN - Sensitive 60
for quality control of ATMPs
D18.4 Summary report of ERDERA Qualification WP18 23 - FGB R — Document, report PU - Public 80
applications with regulatory Authorities
D19.1 First knowledge transfer of protocols & tools WP19 24 - APHP OTHER PU - Public 36
to CRN and selected JTC projects
D19.2 Final knowledge transfer of protocols & WP19 24 - APHP OTHER PU - Public 84
tools to CRN and selected JTC projects
D19.3 First protocol & tools for methodological WP19 25 - UHASSELT OTHER PU - Public 36
upscaling of RD research projects
74
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
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Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D19.4 Final protocol & tools for methodological WP19 25 - UHASSELT OTHER PU - Public 84
upscaling of RD research projects
D20.1 Report on the identification and fulfilment of WP20 27 - VULSK R — Document, report PU - Public 36
RD education and training needs
D20.2 Impact assessment of ERDERA education WP20 27 - VULSK R — Document, report PU - Public 84
and training programme
D21.1 Base protocols for research grade rAAVs WP21 63 - GNT R — Document, report PU - Public 25
production
D21.2 Computational tools for of LNPs, EVs and WP21 164 - RJF OTHER SEN - Sensitive 30
biohybrids formulation development
D21.3 gRNAs for effective and safe gene editing WP21 70 - IMAGINE R — Document, report SEN - Sensitive 36
D21.4 Dataset of Gene therapy Immunogenicity WP21 1 - INSERM DATA — data sets, PU - Public 36
assessment on humanized mouse model microdata, etc
D21.5 Multiomics single cell analysis and WP21 45 - CHI DATA — data sets, SEN - Sensitive 36
bioinformatic pipeline fit-for-purpose microdata, etc
qualified to characterize immune response to
ATMPs
D21.6 Report on standard regulatory quality control WP21 161 - Pfizer R — Document, report PU - Public 50
parameters of mRNA formulations
75
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
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Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D21.7 Regulatory compliant recommendations for WP21 77 - KU Leuven R — Document, report PU - Public 58
rAAV analytics
D22.1 Accelerator Hub inclusion criteria for WP22 30 - AFM R — Document, report SEN - Sensitive 12
research projects
D22.2 Impact analysis of Accelerator hub outputs 1 WP22 22 - EATRIS R — Document, report PU - Public 36
D22.3 Impact analysis of Accelerator hub outputs 2 WP22 22 - EATRIS R — Document, report PU - Public 84
D23.1 Best practice guidelines for creation and WP23 1 - INSERM R — Document, report PU - Public 6
promotion of NMGs
D23.2 First report on the impact of NMGs WP23 170 - UNEW R — Document, report PU - Public 36
D23.3 Second report on the impact of NMGs WP23 170 - UNEW R — Document, report PU - Public 80
D23.4 Recommendations on the NMG WP23 31 - CCUH R — Document, report PU - Public 77
sustainability
D24.1 Mapping of UCs specific needs and WP24 27 - VULSK R — Document, report SEN - Sensitive 12
expectations 1
D24.2 Mapping of UCs specific needs and WP24 27 - VULSK R — Document, report SEN - Sensitive 48
expectations 2
D24.3 Focused guidelines for actions at the WP24 93 - REUH R — Document, report PU - Public 24
National level 1
76
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
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Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D24.4 Focused guidelines for actions at the WP24 93 - REUH R — Document, report PU - Public 48
National level 2
D24.5 Guidelines to increase UCs integration in WP24 32 - AICIB R — Document, report PU - Public 12
ERDERA (including in funding activities) 1
D24.6 Guidelines to increase UCs integration in WP24 32 - AICIB R — Document, report PU - Public 48
ERDERA (including in funding activities) 2
D24.7 Guidelines to increase UCs integration in WP24 32 - AICIB R — Document, report PU - Public 72
ERDERA (including in funding activities) 3
D25.1 White paper on ERNs Living Lab 1 WP25 39 - ASU-FC R — Document, report PU - Public 36
D25.2 White paper on ERNs Living Lab 2 WP25 39 - ASU-FC R — Document, report PU - Public 84
D25.3 Sustainability Plan for established strategic WP25 7 - ZonMw DEM — Demonstrator, SEN - Sensitive 75
alliances and partnerships pilot, prototype
D25.4 Publication on the International CRNs WP25 34 - RDI R — Document, report PU - Public 84
D26.1 OEI - Requirement No. 1 WP26 1 - INSERM ETHICS SEN - Sensitive 1
D26.2 OEI - Requirement No. 2 WP26 1 - INSERM ETHICS SEN - Sensitive 12
D26.3 OEI - Requirement No. 3 WP26 1 - INSERM ETHICS SEN - Sensitive 24
D26.4 OEI - Requirement No. 4 WP26 1 - INSERM ETHICS SEN - Sensitive 36
D26.5 OEI - Requirement No. 5 WP26 1 - INSERM ETHICS SEN - Sensitive 48
77
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
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Deliverable Deliverable Name Work Lead Beneficiary Type Dissemination Level Due Date
No Package (month)
No
D26.6 OEI - Requirement No. 6 WP26 1 - INSERM ETHICS SEN - Sensitive 60
D26.7 OEI - Requirement No. 7 WP26 1 - INSERM ETHICS SEN - Sensitive 72
D26.8 OEI - Requirement No. 8 WP26 1 - INSERM ETHICS SEN - Sensitive 84
78
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D1.1 – Data Management Plan
Deliverable Number D1.1 Lead Beneficiary 1 - INSERM
Deliverable Name Data Management Plan
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 6 Work Package No WP1
Description
Detailed data management plan. To be constantly updated, and the resulting version will be submitted at each reporting
period.
Deliverable D1.2 – Annual Work Plan Y2
Deliverable Number D1.2 Lead Beneficiary 1 - INSERM
Deliverable Name Annual Work Plan Y2
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 9 Work Package No WP1
Description
Detailing the planned activities and resources.
Deliverable D1.3 – Annual Work Plan Y3
Deliverable Number D1.3 Lead Beneficiary 1 - INSERM
Deliverable Name Annual Work Plan Y3
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 21 Work Package No WP1
Description
Detailing the planned activities and resources.
Deliverable D1.4 – Annual Work Plan Y4
Deliverable Number D1.4 Lead Beneficiary 1 - INSERM
Deliverable Name Annual Work Plan Y4
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 33 Work Package No WP1
Description
Detailing the planned activities and resources.
79
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D1.5 – Annual Work Plan Y5
Deliverable Number D1.5 Lead Beneficiary 1 - INSERM
Deliverable Name Annual Work Plan Y5
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 45 Work Package No WP1
Description
Detailing the planned activities and resources.
Deliverable D1.6 – Annual Work Plan Y6
Deliverable Number D1.6 Lead Beneficiary 1 - INSERM
Deliverable Name Annual Work Plan Y6
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 57 Work Package No WP1
Description
Detailing the planned activities and resources.
Deliverable D1.7 – Annual Work Plan Y7
Deliverable Number D1.7 Lead Beneficiary 1 - INSERM
Deliverable Name Annual Work Plan Y7
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 69 Work Package No WP1
Description
Detailing the planned activities and resources.
Deliverable D1.8 – Periodic Progress Report 1
Deliverable Number D1.8 Lead Beneficiary 1 - INSERM
Deliverable Name Periodic Progress Report 1
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 26 Work Package No WP1
Description
ERDERA progress report.
80
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D1.9 – Periodic Progress Report 2
Deliverable Number D1.9 Lead Beneficiary 1 - INSERM
Deliverable Name Periodic Progress Report 2
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 44 Work Package No WP1
Description
ERDERA progress report.
Deliverable D1.10 – Periodic Progress Report 3
Deliverable Number D1.10 Lead Beneficiary 1 - INSERM
Deliverable Name Periodic Progress Report 3
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 62 Work Package No WP1
Description
ERDERA progress report.
Deliverable D1.11 – Periodic Progress Report 4
Deliverable Number D1.11 Lead Beneficiary 1 - INSERM
Deliverable Name Periodic Progress Report 4
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 74 Work Package No WP1
Description
ERDERA progress report.
Deliverable D1.12 – Periodic Progress Report 5
Deliverable Number D1.12 Lead Beneficiary 1 - INSERM
Deliverable Name Periodic Progress Report 5
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 84 Work Package No WP1
Description
ERDERA progress report.
81
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D1.13 – RDP SRIA Update
Deliverable Number D1.13 Lead Beneficiary 1 - INSERM
Deliverable Name RDP SRIA Update
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP1
Description
ERDERA SRIA updated
Deliverable D1.14 – Report on cumulative expenditure incurred
Deliverable Number D1.14 Lead Beneficiary 1 - INSERM
Deliverable Name Report on cumulative expenditure incurred
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 12 Work Package No WP1
Description
Report on cumulative expenditure incurred.
Deliverable D2.1 – Project website
Deliverable Number D2.1 Lead Beneficiary 2 - TEAMIT
Deliverable Name Project website
Type DEC —Websites, patent Dissemination Level PU - Public
filings, videos, etc
Due Date (month) 3 Work Package No WP2
Description
Report on ERDERA visual identity manual and website development.
Deliverable D2.2 – Communication and dissemination strategy
Deliverable Number D2.2 Lead Beneficiary 2 - TEAMIT
Deliverable Name Communication and dissemination strategy
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 6 Work Package No WP2
Description
Audience analysis, objectives; key messages; channels & tools; KPIs, initial plan.
82
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D3.1 – Joint Transnational Call documents 1
Deliverable Number D3.1 Lead Beneficiary 3 - DLR
Deliverable Name Joint Transnational Call documents 1
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 3 Work Package No WP3
Description
Report including MoU, call text, guidelines, application’s form templates.
Deliverable D3.2 – Joint Transnational Call documents 2
Deliverable Number D3.2 Lead Beneficiary 3 - DLR
Deliverable Name Joint Transnational Call documents 2
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 15 Work Package No WP3
Description
Report including MoU, call text, guidelines, application’s form templates.
Deliverable D3.3 – Joint Transnational Call documents 3
Deliverable Number D3.3 Lead Beneficiary 3 - DLR
Deliverable Name Joint Transnational Call documents 3
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 27 Work Package No WP3
Description
Report including MoU, call text, guidelines, application’s form templates.
Deliverable D3.4 – Joint Transnational Call documents 4
Deliverable Number D3.4 Lead Beneficiary 3 - DLR
Deliverable Name Joint Transnational Call documents 4
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 39 Work Package No WP3
Description
Report including MoU, call text, guidelines, application’s form templates.
83
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D3.5 – Joint Transnational Call documents 5
Deliverable Number D3.5 Lead Beneficiary 3 - DLR
Deliverable Name Joint Transnational Call documents 5
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 51 Work Package No WP3
Description
Report including MoU, call text, guidelines, application’s form templates.
Deliverable D3.6 – Joint Transnational Call documents 6
Deliverable Number D3.6 Lead Beneficiary 3 - DLR
Deliverable Name Joint Transnational Call documents 6
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 63 Work Package No WP3
Description
Report including MoU, call text, guidelines, application’s form templates.
Deliverable D3.7 – Joint Transnational Call documents 7
Deliverable Number D3.7 Lead Beneficiary 3 - DLR
Deliverable Name Joint Transnational Call documents 7
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 75 Work Package No WP3
Description
Report including MoU, call text, guidelines, application’s form templates.
Deliverable D3.8 – Evaluation Report of the JTCs 1
Deliverable Number D3.8 Lead Beneficiary 3 - DLR
Deliverable Name Evaluation Report of the JTCs 1
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 15 Work Package No WP3
Description
Report including the observers' report on the evaluation, the joint selection list of the projects to be funded.
84
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D3.9 – Evaluation Report of the JTCs 2
Deliverable Number D3.9 Lead Beneficiary 3 - DLR
Deliverable Name Evaluation Report of the JTCs 2
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 27 Work Package No WP3
Description
Report including the observers' report on the evaluation, the joint selection list of the projects to be funded.
Deliverable D3.10 – Evaluation Report of the JTCs 3
Deliverable Number D3.10 Lead Beneficiary 3 - DLR
Deliverable Name Evaluation Report of the JTCs 3
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 39 Work Package No WP3
Description
Report including the observers' report on the evaluation, the joint selection list of the projects to be funded.
Deliverable D3.11 – Evaluation Report of the JTCs 4
Deliverable Number D3.11 Lead Beneficiary 3 - DLR
Deliverable Name Evaluation Report of the JTCs 4
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 51 Work Package No WP3
Description
Report including the observers' report on the evaluation, the joint selection list of the projects to be funded.
Deliverable D3.12 – Evaluation Report of the JTCs 5
Deliverable Number D3.12 Lead Beneficiary 3 - DLR
Deliverable Name Evaluation Report of the JTCs 5
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 63 Work Package No WP3
Description
Report including the observers' report on the evaluation, the joint selection list of the projects to be funded.
85
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D3.13 – Evaluation Report of the JTCs 6
Deliverable Number D3.13 Lead Beneficiary 3 - DLR
Deliverable Name Evaluation Report of the JTCs 6
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 75 Work Package No WP3
Description
Report including the observers' report on the evaluation, the joint selection list of the projects to be funded.
Deliverable D3.14 – Evaluation Report of the JTCs 7
Deliverable Number D3.14 Lead Beneficiary 3 - DLR
Deliverable Name Evaluation Report of the JTCs 7
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 84 Work Package No WP3
Description
Report including the observers' report on the evaluation, the joint selection list of the projects to be funded.
Deliverable D4.1 – Clinical Trial Call documents
Deliverable Number D4.1 Lead Beneficiary 5 - FTELE
Deliverable Name Clinical Trial Call documents
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 18 Work Package No WP4
Description
Supporting documentation, application form, guidelines for applicants, data, privacy and regulations
Deliverable D4.2 – Evaluation Report of the Clinical Trial Call
Deliverable Number D4.2 Lead Beneficiary 5 - FTELE
Deliverable Name Evaluation Report of the Clinical Trial Call
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 36 Work Package No WP4
Description
Report including the observers' report on the evaluation, the list of the projects to be funded
86
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D5.1 – NSS Call documents
Deliverable Number D5.1 Lead Beneficiary 7 - ZonMw
Deliverable Name NSS Call documents
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 9 Work Package No WP5
Description
Supporting documentation (call text, application template, confidential document for evaluators)
Deliverable D5.2 – List of funded networks 1
Deliverable Number D5.2 Lead Beneficiary 7 - ZonMw
Deliverable Name List of funded networks 1
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP5
Description
List of the networks selected for funding, including summaries
Deliverable D5.3 – List of funded networks 2
Deliverable Number D5.3 Lead Beneficiary 7 - ZonMw
Deliverable Name List of funded networks 2
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP5
Description
List of the networks selected for funding, including summaries
Deliverable D6.1 – Roadmap for genomic federated data analysis approach
Deliverable Number D6.1 Lead Beneficiary 8 - UT
Deliverable Name Roadmap for genomic federated data analysis approach
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 6 Work Package No WP6
Description
Strategy agreed with 1+MG/GDI from the joint workshop
87
Project: 101156595 — ERDERA — HORIZON-HLTH-2023-DISEASE-07
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Deliverable D6.2 – Research dataset on returned diagnostic results 1
Deliverable Number D6.2 Lead Beneficiary 8 - UT
Deliverable Name Research dataset on returned diagnostic results 1
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP6
Description
Aggregated data processed to generate returned diagnostic results
Deliverable D6.3 – Research dataset on returned diagnostic results 2
Deliverable Number D6.3 Lead Beneficiary 8 - UT
Deliverable Name Research dataset on returned diagnostic results 2
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP6
Description
Aggregated data processed to generate returned diagnostic results
Deliverable D7.1 – Coordinated re-analysis diagnostic pipeline
Deliverable Number D7.1 Lead Beneficiary 10 - CNAG
Deliverable Name Coordinated re-analysis diagnostic pipeline
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 12 Work Package No WP7
Description
Description of the revised coordinated re-analysis research diagnostic pipeline
Deliverable D7.2 – Best practice guidelines for diagnostic re-analysis & reinterpretation
strategies
Deliverable Number D7.2 Lead Beneficiary 77 - KU Leuven
Deliverable Name Best practice guidelines for diagnostic re-analysis & reinterpretation strategies
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 30 Work Package No WP7
Description
Translation of successful diagnostic reanalysis strategies into best practice guidelines, including the propagation and
evaluation of phenotypic and ontology usage
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Deliverable D8.1 – Software for long-read pipelines optimized for RD diagnoses
Deliverable Number D8.1 Lead Beneficiary 11 - SRUMC
Deliverable Name Software for long-read pipelines optimized for RD diagnoses
Type OTHER Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP8
Description
Software for ONT and PacBio sequencing to call most variant types released, tested and optimized for RD use
Deliverable D8.2 – Software update for integrated DNARNA pipeline optimized for RD
discoveries 1
Deliverable Number D8.2 Lead Beneficiary 12 - TUM
Deliverable Name Software update for integrated DNARNA pipeline optimized for RD discoveries 1
Type OTHER Dissemination Level PU - Public
Due Date (month) 24 Work Package No WP8
Description
Software (update) released for an integrated DNA-RNA analysis of RD data released, tested and optimized for RD use
Deliverable D8.3 – Software update for integrated DNARNA pipeline optimized for RD
discoveries 2
Deliverable Number D8.3 Lead Beneficiary 12 - TUM
Deliverable Name Software update for integrated DNARNA pipeline optimized for RD discoveries 2
Type OTHER Dissemination Level PU - Public
Due Date (month) 60 Work Package No WP8
Description
Software (update) released for an integrated DNA-RNA analysis of RD data released, tested and optimized for RD use
Deliverable D8.4 – Software for multi-omics pipeline optimized for RD discoveries 1
Deliverable Number D8.4 Lead Beneficiary 37 - AMU
Deliverable Name Software for multi-omics pipeline optimized for RD discoveries 1
Type OTHER Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP8
Description
Software released for an integrated multi-omics RD data released, tested and optimized for RD use
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Deliverable D8.5 – Software for multi-omics pipeline optimized for RD discoveries 2
Deliverable Number D8.5 Lead Beneficiary 37 - AMU
Deliverable Name Software for multi-omics pipeline optimized for RD discoveries 2
Type OTHER Dissemination Level PU - Public
Due Date (month) 72 Work Package No WP8
Description
Software released for an integrated multi-omics RD data released, tested and optimized for RD use
Deliverable D9.1 – Regulatory grade cohort Inventory
Deliverable Number D9.1 Lead Beneficiary 136 - LMU
Deliverable Name Regulatory grade cohort Inventory
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP9
Description
Online list of EMA approved RD cohort data sets
Deliverable D9.2 – Individual disease progression models
Deliverable Number D9.2 Lead Beneficiary 8 - UT
Deliverable Name Individual disease progression models
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP9
Description
4 pilot models for individual-subject progression modelling and prediction
Deliverable D9.3 – Drug Development Tools
Deliverable Number D9.3 Lead Beneficiary 14 - C-PATH
Deliverable Name Drug Development Tools
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 72 Work Package No WP9
Description
Two drug development tools established and accepted by EMA
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Deliverable D10.1 – Disease burden and cost of illness framework for RDs
Deliverable Number D10.1 Lead Beneficiary 97 - Sciensano
Deliverable Name Disease burden and cost of illness framework for RDs
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP10
Description
Framework to estimate cost of illness and burden of disease (BoD) in case data for other RDs becomes available
Deliverable D10.2 – Platform for development of regulatorygrade patient-relevant COAs in
RD
Deliverable Number D10.2 Lead Beneficiary 13 - UKHD
Deliverable Name Platform for development of regulatorygrade patient-relevant COAs in RD
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP10
Description
Step-by-step description of COAs development process
Deliverable D10.3 – Toolbox on collection of patient selfreported data
Deliverable Number D10.3 Lead Beneficiary 15 - VHIR
Deliverable Name Toolbox on collection of patient selfreported data
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP10
Description
Pragmatic guidance on data standardization, regulatory and technological aspects for implementing patient selfreported
data in clinical studies
Deliverable D11.1 – Result of the PoC studies for ATMP technologies
Deliverable Number D11.1 Lead Beneficiary 1 - INSERM
Deliverable Name Result of the PoC studies for ATMP technologies
Type DEM — Demonstrator, Dissemination Level SEN - Sensitive
pilot, prototype
Due Date (month) 60 Work Package No WP11
Description
Proof-of-concept studies to support efficacy of the chosen technology on relevant preclinical models of the identified
diseases
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Deliverable D11.2 – ATMP technology Platform validated in clinical context
Deliverable Number D11.2 Lead Beneficiary 5 - FTELE
Deliverable Name ATMP technology Platform validated in clinical context
Type DEM — Demonstrator, Dissemination Level PU - Public
pilot, prototype
Due Date (month) 84 Work Package No WP11
Description
Evaluation of the clinical translatability of the technology platform in the context of the selected disease
Deliverable D12.1 – Assessment criteria for patient eligibility to individualised ASO treatment
Deliverable Number D12.1 Lead Beneficiary 16 - LUMC
Deliverable Name Assessment criteria for patient eligibility to individualised ASO treatment
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 36 Work Package No WP12
Description
Report on how to assess patient eligibility for individualized treatment (mutation, disease, patient and other
considerations)
Deliverable D12.2 – Toolkit on outcome measures for N-of- 1
Deliverable Number D12.2 Lead Beneficiary 8 - UT
Deliverable Name Toolkit on outcome measures for N-of- 1
Type DEC —Websites, patent Dissemination Level PU - Public
filings, videos, etc
Due Date (month) 56 Work Package No WP12
Description
Catalogue of outcome measures available online
Deliverable D12.3 – Standardized platform for timely development of ASO individualized
treatments
Deliverable Number D12.3 Lead Beneficiary 16 - LUMC
Deliverable Name Standardized platform for timely development of ASO individualized treatments
Type DEM — Demonstrator, Dissemination Level PU - Public
pilot, prototype
Due Date (month) 84 Work Package No WP12
Description
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Operational platform for patient identification, ASO design and synthesis, safety assessment in cells and animals and
ethics management
Deliverable D13.1 – VP specifications and documentation 1
Deliverable Number D13.1 Lead Beneficiary 1 - INSERM
Deliverable Name VP specifications and documentation 1
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 12 Work Package No WP13
Description
First issue of a compilation of specifications, requirements, and documentations of the RD-VP, including onboarding
guidance
Deliverable D13.2 – VP specifications and documentation 2
Deliverable Number D13.2 Lead Beneficiary 1 - INSERM
Deliverable Name VP specifications and documentation 2
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP13
Description
Intermediate issue of a compilation of specifications, requirements, and documentations of the RD-VP, including
onboarding guidance
Deliverable D13.3 – VP specifications and documentation 3
Deliverable Number D13.3 Lead Beneficiary 1 - INSERM
Deliverable Name VP specifications and documentation 3
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP13
Description
Final issue of a compilation of specifications, requirements, and documentations of the RD-VP, including onboarding
guidance
Deliverable D14.1 – Data Stewardship Wizard with the compilation of data models and data
preparation workflows 1
Deliverable Number D14.1 Lead Beneficiary 16 - LUMC
Deliverable Name Data Stewardship Wizard with the compilation of data models and data preparation
workflows 1
Type OTHER Dissemination Level PU - Public
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Due Date (month) 12 Work Package No WP14
Description
First issue of a compilation of data models and data ingestions pipelines (conversions, transformations, deposition
options) disseminated as an updated version of the Data Stewardship Wizard
Deliverable D14.2 – Data Stewardship Wizard with the compilation of data models and data
preparation workflows 2
Deliverable Number D14.2 Lead Beneficiary 16 - LUMC
Deliverable Name Data Stewardship Wizard with the compilation of data models and data preparation
workflows 2
Type OTHER Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP14
Description
Intermediate issue of a compilation of data models and data ingestions pipelines (conversions, transformations,
deposition options) disseminated as an updated version of the Data Stewardship Wizard
Deliverable D14.3 – Data Stewardship Wizard with the compilation of data models and data
preparation workflows 3
Deliverable Number D14.3 Lead Beneficiary 16 - LUMC
Deliverable Name Data Stewardship Wizard with the compilation of data models and data preparation
workflows 3
Type OTHER Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP14
Description
Final issue of a compilation of data models and data ingestions pipelines (conversions, transformations, deposition
options) disseminated as an updated version of the Data Stewardship Wizard
Deliverable D15.1 – Portfolio of ERDERA large scale analysis services and pipelines
Deliverable Number D15.1 Lead Beneficiary 19 - UMCG
Deliverable Name Portfolio of ERDERA large scale analysis services and pipelines
Type DEC —Websites, patent Dissemination Level PU - Public
filings, videos, etc
Due Date (month) 12 Work Package No WP15
Description
Practical documentation for analysis service developers, operators and end-users on SOPs, templates, pipelines and
services. It will be updated as necessary during the project
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Deliverable D15.2 – Portfolio of ERDERA federated analysis methods and services
Deliverable Number D15.2 Lead Beneficiary 18 - UPM
Deliverable Name Portfolio of ERDERA federated analysis methods and services
Type DEC —Websites, patent Dissemination Level PU - Public
filings, videos, etc
Due Date (month) 24 Work Package No WP15
Description
Practical documentation for federated analysis service developers, operators and end-users
Deliverable D15.3 – Technical guidelines for the implementation of services used in the use
cases on federated analysis
Deliverable Number D15.3 Lead Beneficiary 10 - CNAG
Deliverable Name Technical guidelines for the implementation of services used in the use cases on
federated analysis
Type OTHER Dissemination Level PU - Public
Due Date (month) 30 Work Package No WP15
Description
Description of the tools and methods used in the federated analyses use cases. It will be updated as necessary during
the project
Deliverable D16.1 – First standard application of multidimensional knowledge networks (RD
maps) addressing an RD case
Deliverable Number D16.1 Lead Beneficiary 21 - UM
Deliverable Name First standard application of multidimensional knowledge networks (RD maps)
addressing an RD case
Type DEM — Demonstrator, Dissemination Level PU - Public
pilot, prototype
Due Date (month) 36 Work Package No WP16
Description
First multidimensional knowledge networks - spanning from genetic causes to observed phenotypes and treatment
pathways developed and implemented in an RD case/application
Deliverable D16.2 – First version of ontologies (antenatal phenotypes and functional impacts)
integrated with ORDO
Deliverable Number D16.2 Lead Beneficiary 1 - INSERM
Deliverable Name First version of ontologies (antenatal phenotypes and functional impacts) integrated with
ORDO
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Type DEM — Demonstrator, Dissemination Level PU - Public
pilot, prototype
Due Date (month) 36 Work Package No WP16
Description
Ontological models produced and populated with curated content and published in Orphadata
Deliverable D16.3 – Treatabolome demonstrator
Deliverable Number D16.3 Lead Beneficiary 1 - INSERM
Deliverable Name Treatabolome demonstrator
Type DEM — Demonstrator, Dissemination Level PU - Public
pilot, prototype
Due Date (month) 72 Work Package No WP16
Description
Upscaled and expanded Treatabolome with additional disease groups and functionalities to facilitate data entry and data
curation
Deliverable D16.4 – Knowledge bases and ontologies for PROM/PCOM, disabilities and
Treatabolome
Deliverable Number D16.4 Lead Beneficiary 1 - INSERM
Deliverable Name Knowledge bases and ontologies for PROM/PCOM, disabilities and Treatabolome
Type DEM — Demonstrator, Dissemination Level PU - Public
pilot, prototype
Due Date (month) 84 Work Package No WP16
Description
Completed knowledgebases – including interoperability (in RD maps) and inclusion in virtual platform
Deliverable D17.1 – Recommendations to funders on addressing translatability of projects
through funding opportunities
Deliverable Number D17.1 Lead Beneficiary 22 - EATRIS
Deliverable Name Recommendations to funders on addressing translatability of projects through funding
opportunities
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 36 Work Package No WP17
Description
A document providing recommendations for the design of the calls based on the feedback of experts who provided
support to the projects funded by ERDERA
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Deliverable D17.2 – Result of feasibility study for consultancy-based expertise services
Deliverable Number D17.2 Lead Beneficiary 23 - FGB
Deliverable Name Result of feasibility study for consultancy-based expertise services
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 36 Work Package No WP17
Description
Report describing the outcomes from the feasibility study on the proposed management and operations of the consultancy
service
Deliverable D17.3 – Final report of the mentoring services activity
Deliverable Number D17.3 Lead Beneficiary 22 - EATRIS
Deliverable Name Final report of the mentoring services activity
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 84 Work Package No WP17
Description
A report describing the result of the mentoring process
Deliverable D18.1 – Set of regulatory recommendations for CRNs
Deliverable Number D18.1 Lead Beneficiary 23 - FGB
Deliverable Name Set of regulatory recommendations for CRNs
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 6 Work Package No WP18
Description
Set of regulatory recommendations processing of heath data and biosamples handling in clinical studies to prepare CRNs
on a regulatory-compliant clinical research
Deliverable D18.2 – Set of Regulatory support tools for preclinical development to facilitate
regulatory filings and convergence for RD
Deliverable Number D18.2 Lead Beneficiary 22 - EATRIS
Deliverable Name Set of Regulatory support tools for preclinical development to facilitate regulatory
filings and convergence for RD
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP18
Description
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Report on prospective tools, standards methods, and resources, including a regulatory database to support regulatory
filings and convergence for rare disease
Deliverable D18.3 – Roadmap for physical and written standards for quality control of
ATMPs
Deliverable Number D18.3 Lead Beneficiary 22 - EATRIS
Deliverable Name Roadmap for physical and written standards for quality control of ATMPs
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 60 Work Package No WP18
Description
Roadmap on how to realize the prioritized list of physical or written quality standards needed to support the platform
technologies of the project
Deliverable D18.4 – Summary report of ERDERA Qualification applications with regulatory
Authorities
Deliverable Number D18.4 Lead Beneficiary 23 - FGB
Deliverable Name Summary report of ERDERA Qualification applications with regulatory Authorities
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 80 Work Package No WP18
Description
Final overview of status and required future steps, of qualification applications with Regulatory authorities for novel
therapeutic approaches developed within the project
Deliverable D19.1 – First knowledge transfer of protocols & tools to CRN and selected JTC
projects
Deliverable Number D19.1 Lead Beneficiary 24 - APHP
Deliverable Name First knowledge transfer of protocols & tools to CRN and selected JTC projects
Type OTHER Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP19
Description
First reports & tools (including software) describing the State-of-the art methodology and
recommendations transferred to ERDERA funded and inhouse research project, including biostatistical, epidemiological,
data science, artificial intelligence and machine learning dimensions
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Deliverable D19.2 – Final knowledge transfer of protocols & tools to CRN and selected JTC
projects
Deliverable Number D19.2 Lead Beneficiary 24 - APHP
Deliverable Name Final knowledge transfer of protocols & tools to CRN and selected JTC projects
Type OTHER Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP19
Description
Final reports & tools (including software) describing the State-of-the art methodology and
recommendations transferred to ERDERA funded and inhouse research project, including biostatistical, epidemiological,
data science, artificial intelligence and machine learning dimensions
Deliverable D19.3 – First protocol & tools for methodological upscaling of RD research
projects
Deliverable Number D19.3 Lead Beneficiary 25 - UHASSELT
Deliverable Name First protocol & tools for methodological upscaling of RD research projects
Type OTHER Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP19
Description
First report & tools (including software) on the learnings and applications resulting from at least three conducted
methodological projects
Deliverable D19.4 – Final protocol & tools for methodological upscaling of RD research
projects
Deliverable Number D19.4 Lead Beneficiary 25 - UHASSELT
Deliverable Name Final protocol & tools for methodological upscaling of RD research projects
Type OTHER Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP19
Description
Final report & tools (including software) on the learnings and applications resulting from at least three conducted
methodological projects
Deliverable D20.1 – Report on the identification and fulfilment of RD education and training
needs
Deliverable Number D20.1 Lead Beneficiary 27 - VULSK
Deliverable Name Report on the identification and fulfilment of RD education and training needs
Type R — Document, report Dissemination Level PU - Public
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Due Date (month) 36 Work Package No WP20
Description
Evaluation of state-of-the-art of RD education and training in ERDERA and beyond
Deliverable D20.2 – Impact assessment of ERDERA education and training programme
Deliverable Number D20.2 Lead Beneficiary 27 - VULSK
Deliverable Name Impact assessment of ERDERA education and training programme
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP20
Description
Impact assessment of ERDERA education and training programme and further recommendations for continuous
improvement
Deliverable D21.1 – Base protocols for research grade rAAVs production
Deliverable Number D21.1 Lead Beneficiary 63 - GNT
Deliverable Name Base protocols for research grade rAAVs production
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 25 Work Package No WP21
Description
Development of base protocols for rAAV production based on publicly available, state-of-the-art knowledge &
methodologies
Deliverable D21.2 – Computational tools for of LNPs, EVs and biohybrids formulation
development
Deliverable Number D21.2 Lead Beneficiary 164 - RJF
Deliverable Name Computational tools for of LNPs, EVs and biohybrids formulation development
Type OTHER Dissemination Level SEN - Sensitive
Due Date (month) 30 Work Package No WP21
Description
Development of computational tools for formulation development and running first test set
Deliverable D21.3 – gRNAs for effective and safe gene editing
Deliverable Number D21.3 Lead Beneficiary 70 - IMAGINE
Deliverable Name gRNAs for effective and safe gene editing
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Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 36 Work Package No WP21
Description
In vitro nomination of an effective and specific gene editing reagent for each of the selected rare diseases
Deliverable D21.4 – Dataset of Gene therapy Immunogenicity assessment on humanized
mouse model
Deliverable Number D21.4 Lead Beneficiary 1 - INSERM
Deliverable Name Dataset of Gene therapy Immunogenicity assessment on humanized mouse model
Type DATA — data sets, Dissemination Level PU - Public
microdata, etc
Due Date (month) 36 Work Package No WP21
Description
Data set of complex immunogenicity results to at least four gene therapy tools in NSG-mice engrafted with human
immune system
Deliverable D21.5 – Multiomics single cell analysis and bioinformatic pipeline fit-for-purpose
qualified to characterize immune response to ATMPs
Deliverable Number D21.5 Lead Beneficiary 45 - CHI
Deliverable Name Multiomics single cell analysis and bioinformatic pipeline fit-for-purpose qualified to
characterize immune response to ATMPs
Type DATA — data sets, Dissemination Level SEN - Sensitive
microdata, etc
Due Date (month) 36 Work Package No WP21
Description
Methodical and Bioinformatics workflow on multiomics analysis of immune therapy response
Deliverable D21.6 – Report on standard regulatory quality control parameters of mRNA
formulations
Deliverable Number D21.6 Lead Beneficiary 161 - Pfizer
Deliverable Name Report on standard regulatory quality control parameters of mRNA formulations
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 50 Work Package No WP21
Description
List of regulatory quality control parameters of LNP/EV (standard operating procedures for particles characterization,
in vitro/vivo toxicology studies, benchmark materials)
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Deliverable D21.7 – Regulatory compliant recommendations for rAAV analytics
Deliverable Number D21.7 Lead Beneficiary 77 - KU Leuven
Deliverable Name Regulatory compliant recommendations for rAAV analytics
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 58 Work Package No WP21
Description
Validation of the currently available protocols for assessing the critical quality attributes of rAAV and develop new ones
to increase accuracy and throughput
Deliverable D22.1 – Accelerator Hub inclusion criteria for research projects
Deliverable Number D22.1 Lead Beneficiary 30 - AFM
Deliverable Name Accelerator Hub inclusion criteria for research projects
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 12 Work Package No WP22
Description
Description of criteria & process for identifying and selecting research projects for accelerator
Deliverable D22.2 – Impact analysis of Accelerator hub outputs 1
Deliverable Number D22.2 Lead Beneficiary 22 - EATRIS
Deliverable Name Impact analysis of Accelerator hub outputs 1
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP22
Description
Summary and assessment of support provided to projects
Deliverable D22.3 – Impact analysis of Accelerator hub outputs 2
Deliverable Number D22.3 Lead Beneficiary 22 - EATRIS
Deliverable Name Impact analysis of Accelerator hub outputs 2
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP22
Description
Summary and assessment of support provided to projects
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Deliverable D23.1 – Best practice guidelines for creation and promotion of NMGs
Deliverable Number D23.1 Lead Beneficiary 1 - INSERM
Deliverable Name Best practice guidelines for creation and promotion of NMGs
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 6 Work Package No WP23
Description
Guidance for countries to develop NMGs including information on successful implementation
Deliverable D23.2 – First report on the impact of NMGs
Deliverable Number D23.2 Lead Beneficiary 170 - UNEW
Deliverable Name First report on the impact of NMGs
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP23
Description
Analysis of the impact of the National Mirror Groups on ERDERA and on the national RD activities and strategies
Deliverable D23.3 – Second report on the impact of NMGs
Deliverable Number D23.3 Lead Beneficiary 170 - UNEW
Deliverable Name Second report on the impact of NMGs
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 80 Work Package No WP23
Description
Analysis of the impact of the National Mirror Groups on ERDERA and on the national RD activities and strategies
Deliverable D23.4 – Recommendations on the NMG sustainability
Deliverable Number D23.4 Lead Beneficiary 31 - CCUH
Deliverable Name Recommendations on the NMG sustainability
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 77 Work Package No WP23
Description
Recommendations how to maintain active and productive work of NMGs
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Deliverable D24.1 – Mapping of UCs specific needs and expectations 1
Deliverable Number D24.1 Lead Beneficiary 27 - VULSK
Deliverable Name Mapping of UCs specific needs and expectations 1
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 12 Work Package No WP24
Description
Description of needs and expectations of underrepresented countries in ERDERA, including information on current
barriers to participation
Deliverable D24.2 – Mapping of UCs specific needs and expectations 2
Deliverable Number D24.2 Lead Beneficiary 27 - VULSK
Deliverable Name Mapping of UCs specific needs and expectations 2
Type R — Document, report Dissemination Level SEN - Sensitive
Due Date (month) 48 Work Package No WP24
Description
Description of needs and expectations of underrepresented countries in ERDERA, including information on current
barriers to participation
Deliverable D24.3 – Focused guidelines for actions at the National level 1
Deliverable Number D24.3 Lead Beneficiary 93 - REUH
Deliverable Name Focused guidelines for actions at the National level 1
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 24 Work Package No WP24
Description
Development of focused guidelines for actions at the National level for capacity development of UC R&I
Deliverable D24.4 – Focused guidelines for actions at the National level 2
Deliverable Number D24.4 Lead Beneficiary 93 - REUH
Deliverable Name Focused guidelines for actions at the National level 2
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 48 Work Package No WP24
Description
Development of focused guidelines for actions at the National level for capacity development of UC R&I
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Deliverable D24.5 – Guidelines to increase UCs integration in ERDERA (including in funding
activities) 1
Deliverable Number D24.5 Lead Beneficiary 32 - AICIB
Deliverable Name Guidelines to increase UCs integration in ERDERA (including in funding activities) 1
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 12 Work Package No WP24
Description
Recommendations for procedures and measures to be implemented to increase UCs participation, including guidelines
for promoting the inclusion of UCs in ERDERA funded actions (JTCs, Networking Calls, and others)
Deliverable D24.6 – Guidelines to increase UCs integration in ERDERA (including in funding
activities) 2
Deliverable Number D24.6 Lead Beneficiary 32 - AICIB
Deliverable Name Guidelines to increase UCs integration in ERDERA (including in funding activities) 2
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 48 Work Package No WP24
Description
Recommendations for procedures and measures to be implemented to increase UCs participation, including guidelines
for promoting the inclusion of UCs in ERDERA funded actions (JTCs, Networking Calls, and others)
Deliverable D24.7 – Guidelines to increase UCs integration in ERDERA (including in funding
activities) 3
Deliverable Number D24.7 Lead Beneficiary 32 - AICIB
Deliverable Name Guidelines to increase UCs integration in ERDERA (including in funding activities) 3
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 72 Work Package No WP24
Description
Recommendations for procedures and measures to be implemented to increase UCs participation, including guidelines
for promoting the inclusion of UCs in ERDERA funded actions (JTCs, Networking Calls, and others)
Deliverable D25.1 – White paper on ERNs Living Lab 1
Deliverable Number D25.1 Lead Beneficiary 39 - ASU-FC
Deliverable Name White paper on ERNs Living Lab 1
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 36 Work Package No WP25
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Description
White paper on the advancement and outputs of the 24 ERNs Living Lab
Deliverable D25.2 – White paper on ERNs Living Lab 2
Deliverable Number D25.2 Lead Beneficiary 39 - ASU-FC
Deliverable Name White paper on ERNs Living Lab 2
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP25
Description
White paper on the advancement and outputs of the 24 ERNs Living Lab
Deliverable D25.3 – Sustainability Plan for established strategic alliances and partnerships
Deliverable Number D25.3 Lead Beneficiary 7 - ZonMw
Deliverable Name Sustainability Plan for established strategic alliances and partnerships
Type DEM — Demonstrator, Dissemination Level SEN - Sensitive
pilot, prototype
Due Date (month) 75 Work Package No WP25
Description
Strategies for long-term collaboration as part of the overarching ERDERA exit strategy
Deliverable D25.4 – Publication on the International CRNs
Deliverable Number D25.4 Lead Beneficiary 34 - RDI
Deliverable Name Publication on the International CRNs
Type R — Document, report Dissemination Level PU - Public
Due Date (month) 84 Work Package No WP25
Description
White Paper on the International Dimension of the Clinical Research Networks
Deliverable D26.1 – OEI - Requirement No. 1
Deliverable Number D26.1 Lead Beneficiary 1 - INSERM
Deliverable Name OEI - Requirement No. 1
Type ETHICS Dissemination Level SEN - Sensitive
Due Date (month) 1 Work Package No WP26
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Description
Ethics Advisor_The proposal already provides for the appointment of an independent Ethics Advisor. Periodic reports
by the Ethics Advisor must be submitted to the granting authority every 12 months, starting at M12 of the project.
The CVs and declarations of absence of conflict of interest for the selected EA(s) must be kept on file and provided to
the granting authority upon request. European Commission Guidance for Ethics Advisors/Boards can be found at:
https://ec.europa.eu/info/funding-tenders/opportunities/docs/2021-2027/horizon/guidance/roles-andfunctions-of-
ethics-advisory-ethics-advisory-boards-in-ec-funded-projects_he_en.pdf
Deliverable D26.2 – OEI - Requirement No. 2
Deliverable Number D26.2 Lead Beneficiary 1 - INSERM
Deliverable Name OEI - Requirement No. 2
Type ETHICS Dissemination Level SEN - Sensitive
Due Date (month) 12 Work Package No WP26
Description
First report by the Ethics Adviser.
Deliverable D26.3 – OEI - Requirement No. 3
Deliverable Number D26.3 Lead Beneficiary 1 - INSERM
Deliverable Name OEI - Requirement No. 3
Type ETHICS Dissemination Level SEN - Sensitive
Due Date (month) 24 Work Package No WP26
Description
The second report by the Ethics Adviser.
Deliverable D26.4 – OEI - Requirement No. 4
Deliverable Number D26.4 Lead Beneficiary 1 - INSERM
Deliverable Name OEI - Requirement No. 4
Type ETHICS Dissemination Level SEN - Sensitive
Due Date (month) 36 Work Package No WP26
Description
The third report by the Ethics Adviser.
Deliverable D26.5 – OEI - Requirement No. 5
Deliverable Number D26.5 Lead Beneficiary 1 - INSERM
Deliverable Name OEI - Requirement No. 5
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Type ETHICS Dissemination Level SEN - Sensitive
Due Date (month) 48 Work Package No WP26
Description
The fourth report by the Ethics Adviser.
Deliverable D26.6 – OEI - Requirement No. 6
Deliverable Number D26.6 Lead Beneficiary 1 - INSERM
Deliverable Name OEI - Requirement No. 6
Type ETHICS Dissemination Level SEN - Sensitive
Due Date (month) 60 Work Package No WP26
Description
The fifth report by the Ethics Adviser.
Deliverable D26.7 – OEI - Requirement No. 7
Deliverable Number D26.7 Lead Beneficiary 1 - INSERM
Deliverable Name OEI - Requirement No. 7
Type ETHICS Dissemination Level SEN - Sensitive
Due Date (month) 72 Work Package No WP26
Description
Sixth report by the Ethics Advisor.
Deliverable D26.8 – OEI - Requirement No. 8
Deliverable Number D26.8 Lead Beneficiary 1 - INSERM
Deliverable Name OEI - Requirement No. 8
Type ETHICS Dissemination Level SEN - Sensitive
Due Date (month) 84 Work Package No WP26
Description
Seventh report by the Ethics Advisor.
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LIST OF MILESTONES
Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
1 ERDERA Kick-off meeting WP1 1 - INSERM Minutes of the Kick-off meeting 1
2 Governance and Advisory Bodies set up WP1 1 - INSERM List of members 6
3 Number of funded Clinical trials with at least WP4 5 - FTELE Aggregated monitoring reports 80
50% of patients sample size recruited
4 Implementation of Networking Support WP5 6 - LMT Opening of funding scheme announced on 9
Scheme ERDERA website
5 Establishment of Data Availability WP6 8 - UT Composition of DAC and report of first meeting 2
Committee (DAC)
6 First federated data sharing and re-analysis WP6 8 - UT First satellite instance (node) of the CRN 36
approach focusing on genome data Diagnostic Research
7 Long-read sequencing data included in data WP6 8 - UT Updated process description and dataset 61
readiness processes for re-analysis identifier(s)
8 Establishment of Task Forces for Data WP6, WP7 10 - CNAG Composition of DITF-DATF structure and report 3
Analysis (DATF) and interpretation (DITF) of first meeting
9 Phase I (yr 4-7): Data freeze for combined WP7, WP6, WP15, 10 - CNAG Identifier of available Data sets for interpretation 30
approach of distributed and federated analysis WP8 beyond standard exome and genome approaches
and interpretation, including non-standard
approaches
10 Phase II (yr 4-7): Data freeze for combined WP7, WP6, WP15, 10 - CNAG Report on Data freeze including distributed/ 48
approach of distributed and federated analysis WP8 federated access datasets to at least 10,000 data
and interpretation, including non-standard sets
approaches
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Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
11 Phase I (yr 1-3): Data freeze for distributed WP6, WP7, WP15 10 - CNAG Report on 50,000 datasets analysed and 36
analysis and interpretation interpreted through a distributed approach
12 Phase III: transition to federated approach WP6, WP7, WP15, 10 - CNAG Demonstrator of Federated access to EU and non- 72
completed WP8 EU partners of ERDERA
13 Analysis pipeline for long-read technologies WP8 11 - SRUMC LRS-analysis pipelines tested, validated and 36
established and tested on positive controls released
14 New diagnoses of RDs by long-read WP8 11 - SRUMC Report on Gene/loci identification by hidden 36
technologies, RNA-DNA or multi-omics variants utilizing innovative long-read methods
analyses established 1 and on Pathogenic variant identification by
innovative data analysis
15 New diagnoses of RDs by long-read WP8 11 - SRUMC Report on Gene/loci identification by hidden 84
technologies, RNA-DNA or multi-omics variants utilizing innovative long-read methods
analyses established 2 and on Pathogenic variant identification by
innovative data analysis
16 DNA-RNA analysis pipelines established WP8 11 - SRUMC Pipelines tested, validated and released on 60
selected repository for DNA-RNA analysis
17 Multi-omics analysis pipelines established WP8 11 - SRUMC Pipelines tested, validated and released on 72
selected repository for multi-omics analysis
18 All institutional approvals for data extraction WP9, WP18 13 - UKHD Confirmation of filing and provision on demand 24
and sharing are in place of the institutional approval documents
19 European and US databases interoperable for WP9, WP14 13 - UKHD RDCA-DAP database in place 30
joint analysis
20 All integrated cohorts FAIRified and WP9, WP13, 13 - UKHD Cohorts queryable online 36
onboarded to VP WP14
21 Proven interoperability of registries filled WP9, WP14 13 - UKHD Federated queries to participating registries 48
operational
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Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
automatically from different EHR systems in
multiple countries
22 Development and validation of disease- WP10 15 - VHIR Core impact set for five demonstrator diseases 18
specific PROM scales 1 published
23 Development and validation of disease- WP10 15 - VHIR Core impact set for five demonstrator diseases 24
specific PROM scales 2 published and corresponding PROM scale
designed and corresponding PROM scale
designed
24 Development and validation of disease- WP10 15 - VHIR Core impact set for longitudinal validation in ≥ 3 60
specific PROM scales 3 languages completed
25 Development and revision of study protocols WP10 15 - VHIR Study protocols completed for the 4 use cases 24
for the 4 use cases 1 following standardised EC format
26 Development and revision of study protocols WP10 15 - VHIR Study protocols completed for the 4 use cases 48
for the 4 use cases 2 following standardised EC format and revised
based on pilot studies
27 Anchoring of disease-specific indirect COAs WP10 15 - VHIR Outcome matrix for indirect outcome 24
to patient-relevant core impacts 1 assessments established
28 Anchoring of disease-specific indirect COAs WP10 15 - VHIR Outcome matrix for indirect outcome 72
to patient-relevant core impacts 2 assessments established and protocol for
validation studies available; longitudinal
anchoring studies completed for ≥ 2 COA
assessments per use case
29 Anchoring of disease-specific indirect COAs WP10 15 - VHIR Outcome matrix for indirect outcome 84
to patient-relevant core impacts 3 assessments established and protocol for
validation studies available; meaningful
withinpatient change established
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Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
30 Standardized protocol for DALY and Cost of WP10 15 - VHIR Document that details the standardized protocols 60
Illness for DALY and Cost of Illness are finalized
31 Target diseases ranking with at least 3 ranked WP11 1 - INSERM Report on a list of parameters indicating the 24
diseases that matched to technology platforms selected diseases are qualified to be treated with
technology platforms
32 List of ATMP dedicated Clinical Networks for WP11 1 - INSERM Listing of the networks and their clinical sites 24
the identified PoC platform
33 Selection of the platforms best matched to WP11 1 - INSERM Identification of the best performing 36
prioritized target diseases technological platform adapted to the treatment of
the high-ranked diseases
34 Clinical Trial with ATMPs initiated WP11 1 - INSERM Clinical Trial Application filed 84
35 Preclinical efficacy studies use case 1 and 3 WP12 16 - LUMC Publication on results of efficacy studies 36
completed
36 First patient treated in underrepresented WP12 16 - LUMC Pseudonymised Clinical Report 36
country in a named patient setting
37 First patient treated in a named patient setting WP12 16 - LUMC Pseudonymised Clinical Report 48
38 Platform rolled out in 3 other centres WP12 16 - LUMC Clinical report and performance assessment 72
report of platform roll-out
39 Landscape analysis of ERDERA data WP14 16 - LUMC Report on analysis results and roadmap for 8
processing needs completed, including addressing identified needs with risk mitigation
methodology for measuring acceleration rate measures
of FAIRification
40 Data models and ingestion results validated WP14, WP13 16 - LUMC Results of Automated compliance testing by the 36
against EOSC FAIR data publishing public FAIR Evaluator tool
recommendations
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Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
41 First release of a portable data and analysis WP6, WP7, WP16, 19 - UMCG Software available in GitHub 6
tracking system WP14
42 Initial version of the ERDERA analysis WP9, WP6, WP7, 19 - UMCG Platform available online 12
platform deployed WP16, WP13,
WP14, WP10
43 First version of the coordinated research WP9, WP7, WP16, 19 - UMCG Pipeline available in a public repository 24
diagnostics pipeline prioritised in 7 available WP10
for distributed implementation
44 Two use cases on federated analysis WP15 19 - UMCG Short report explaining the use cases outcomes, 36
completed and the tools and services involved
45 First ontology versions for antenatal WP16 20 - AUMC Demonstrator (involved Task 16.1; 16.2 and 16.5) 18
phenotypes for RD and functional impacts for
RD
46 Treatabolome with crowd-sourcing WP16 20 - AUMC New version of the Treatabolome available online 36
functionality available with the additional functionality (Task 16.3)
47 Graph-based infrastructure WP16 20 - AUMC A lightweight infrastructure to host, link to, and 80
interlink semantic resources (Task 16.5)
48 Evaluation of the use of the Innovation WP17 22 - EATRIS Report delivered to the Executive and Governing 36
Management Toolbox during within M1- M36 Bodies
ERDERA lifespan
49 Composition of the Regulatory Support WP18 23 - FGB Completion of composition and launch of 3
Group and first Kick off meeting Regulatory Support Group
50 First set of sources, guidance, WP18 23 - FGB Documents and webinars available on project 20
recommendations and webinars delivered internal channels
51 Second set of sources, guidance, WP18 23 - FGB Documents and webinars available on project 40
recommendations and webinars delivered internal channels
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Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
52 Regulatory recommendations for the WP18 23 - FGB Recommendations available on project internal 24
technological deliverables of ERDERA channels
53 Interaction workflows with the Data Services WP19, WP16, 24 - APHP Report 36
and Acceleration Hub 1 WP21, WP22
54 Interaction workflows with the Data Services WP19, WP16, 24 - APHP Report 84
and Acceleration Hub 2 WP21, WP22
55 Yearly rounds of RD research education and WP20 26 - EURORDIS Datasets from satisfaction survey & participants 12
training activities successfully delivered (Y1) acquired knowledge evaluation results
56 Yearly rounds of RD research education and WP20 24 - APHP Datasets from satisfaction survey & participants 24
training activities successfully delivered (Y2) acquired knowledge evaluation results
57 Yearly rounds of RD research education and WP20 26 - EURORDIS Datasets from satisfaction survey & participants 36
training activities successfully delivered (Y3) acquired knowledge evaluation results
58 Yearly rounds of RD research education and WP20 26 - EURORDIS Datasets from satisfaction survey & participants 48
training activities successfully delivered (Y4) acquired knowledge evaluation results
59 Yearly rounds of RD research education and WP20 26 - EURORDIS Datasets from satisfaction survey & participants 60
training activities successfully delivered (Y5) acquired knowledge evaluation results
60 Yearly rounds of RD research education and WP20 26 - EURORDIS Datasets from satisfaction survey & participants 72
training activities successfully delivered (Y6) acquired knowledge evaluation results
61 Yearly rounds of RD research education and WP20 26 - EURORDIS Datasets from satisfaction survey & participants 84
training activities successfully delivered (Y7) acquired knowledge evaluation results
62 Agreement on base manufacturing process of WP21 28 - UC Report/Plan 6
AAVs
63 Immune cell lines available for mRNA WP21 28 - UC Delivery of specific primary T-cell lines and 12
technology platform CAR-T cells as standard tools
64 Immune gene list content WP21 28 - UC Verification of the sequence of the genes 18
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Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
applicable to the transcriptomic design for DD-
PCR – data set
65 Multiomics immune response analyses WP21 28 - UC Data set enabling selection of best suitable 24
molecular, proteomics, metabolic, functional
platforms, test for the further tasks of
qualification and validation
66 Analytical toolbox for RNA formulations WP21 28 - UC Analytical toolbox for in vitro and in vivo 36
characterization of efficiency, immunogenicity
and safety of RNA formulations
67 Adoption of base manufacturing protocol and WP21 28 - UC Report/Plan 36
scale up
68 Treg development candidate WP21 28 - UC Laboratory Cas-specific Treg prototype 36
generated under non-GMP conditions available
for in depth PoC preclinical studies
69 AAV production process scale up WP21 28 - UC Larger scale bioprocessing using bioreactors and 36
suspension producer cells
70 Analysis and test of RNA sequences WP21 28 - UC Design, production, analytical characterization of 42
RNA molecules, and head-to-head comparison of
RNA sequences in reporter cell lines
71 Validation of the assays for selected WP21 28 - UC Report 48
CQAs (minimum being genome titer) with
accompanying inter-laboratory variability
analysis
72 Identification of effective and safe gene WP21 28 - UC Validation across different Tasks 48
delivery modalities for the selected organs
73 Selection of in vivo gene delivery modalities WP21 28 - UC In vivo ranking of gene delivery modalities for 48
the selected organs
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Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
74 PoC of gene correction in relevant in vivo WP21 28 - UC Validation across different organs and diseases 58
models of the selected diseases
75 Public-Private Partnership accelerator WP22 29 - FFRD Set of SOPs 12
workflows completed
76 Public-Private Partnership accelerator WP22 29 - FFRD Webpages and inaugural meeting of investor 24
marketplace construction completed launching accelerator
77 75% (23 out of 31) of NMGs established in WP23 1 - INSERM Aggregated report including lists of participants 12
ERDERA participating countries and three-year plan of NMGs
78 100% of NMGs established in ERDERA WP23 1 - INSERM Aggregated report including lists of participants 24
participating countries and three-year plan of NMGs
79 Successful gain and dissemination of specific WP23 1 - INSERM Results of Annual NMG surveys on knowledge 84
knowledge among NMGs trough train the dissemination among local NMG members
trainees and thematic workshops
80 Workshops on actions to improve UCs WP24 32 - AICIB Reports including Statistical analysis of 11
participation (back-to-back with funders indicators implementation (number of actions
meeting) 1 implemented, number of actions accepted
to implementation, etc.) to improve UCs
participation in RDP funded activities
81 Workshops on actions to improve UCs WP24 32 - AICIB Reports including Statistical analysis of 48
participation (back-to-back with funders indicators implementation (number of actions
meeting) 2 implemented, number of actions accepted
to implementation, etc.) to improve UCs
participation in RDP funded activities
82 Impact of UCs on ERDERA activities WP6, WP7, WP16, 32 - AICIB Report Statistics analysis of implementation 48
demonstrated 1 WP11, WP4, WP5, indicators (number of UCs cases describing
WP15, WP18, impacts, number of UCs integrated in ERDERA
WP14, WP26, activities)
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Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
WP10, WP1, WP2,
WP25, WP8, WP9,
WP19, WP17,
WP21, WP12,
WP23, WP22,
WP13, WP20,
WP3, WP24
83 Impact of UCs on ERDERA activities WP6, WP7, WP16, 32 - AICIB Report Statistics analysis of implementation 72
demonstrated 2 WP11, WP4, WP5, indicators (number of UCs cases describing
WP15, WP18, impacts, number of UCs integrated in ERDERA
WP14, WP26, activities)
WP10, WP1, WP2,
WP25, WP8, WP9,
WP19, WP17,
WP21, WP12,
WP23, WP22,
WP13, WP20,
WP3, WP24
84 Two Task Forces (TF) per year completed WP25 7 - ZonMw Article, white paper or planned outcomes of the 24
(Y2) Task Force
85 Two Task Forces (TF) per year completed WP25 7 - ZonMw Article, white paper or planned outcomes of the 36
(Y3) Task Force
86 Two Task Forces (TF) per year completed WP25 7 - ZonMw Article, white paper or planned outcomes of the 48
(Y4) Task Force
87 Two Task Forces (TF) per year completd (Y5) WP25 7 - ZonMw Article, white paper or planned outcomes of the 60
Task Force
88 Two Task Forces (TF) per year completed WP25 7 - ZonMw Article, white paper or planned outcomes of the 72
(Y6) Task Force
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Milestones
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Milestone Milestone Name Work Package No Lead Beneficiary Means of Verification Due Date
No (month)
89 Two Task Forces (TF) per year completed WP25 7 - ZonMw Article, white paper or planned outcomes of the 84
(Y7) Task Force
90 Three International Conferences organised WP25 7 - ZonMw Dates, programmes and reports of Conference on 84
website
LIST OF CRITICAL RISKS
Critical risks & risk management strategy
Grant Preparation (Critical Risks screen) — Enter the info.
Risk Description Work Package Proposed Mitigation Measures
number No(s)
1 Incapacity or departure of coordinator [(i) WP1 High quality of the coordination team with possibility of interim by one of the Workstream
likelihood: Low, (ii) severity: High] leaders. Strong commitment of the Coordinator.
2 Misuse of resources [(i) likelihood: Low, (ii) WP1 Most partners’ institutions are experiences and equipped with internal financial accounting
severity: High] and auditing office. Close Data-Driven Monitoring will help in identifying abnormalities.
3 Financial bottleneck due to underestimation WP1 Detailed business plan prepared before launch of the project including 15% risk of budget
of contribution capacity of partner(s) and/or loss. Financial management issues set up in Consortium Agreement. Emergency mitigation
withdrawal of major partner [(i) likelihood: procedure set up – possibility to adjust the work plan and align budget-
Medium, (ii) severity: High]
4 Situations of force majeure [(i) likelihood: Medium, WP1 Agile management adapting to unforeseen events. Leveraging on past COVID-19 and
(ii) severity: Medium] Ukraine war experience (e.g., continuous information back-up on remote secured servers,
hybrid/online shift of activities, strategic context intelligence).
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Critical risks & risk management strategy
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Risk Description Work Package Proposed Mitigation Measures
number No(s)
5 Insufficient coordination of priorities / unresolved WP1 Criteria and process of prioritization agreed at the start of the project and validated by GB;
conflicts about strategy [(i) likelihood: Low, (ii) Possibility to call for MAB recommendations; Flexibility of Annual Work Plans.
severity: Medium]
6 National financial bottlenecks for funding joint WP3 Earmarking adequate national budgets in line with national research capacity and costs;
transnational research projects [(i) likelihood: Postevaluation negotiations on increasing national budget and/or budget negotiations with
Medium, (ii) severity: Medium] applicants; Use of EC co-funding to adjust national budget shortcomings.
7 Delay in the clinical trials progress (e.g., difficulties WP4 The second step pf evaluation focuses on feasibility such that funded trials should be ready
in recruiting subjects; difficulties in obtaining for approval. Active involvement of PAOs in the CTs. Payments against achievements of
approvals by competent authorities) [(i) likelihood: the milestones.
Medium, (ii) severity: Medium]
8 Delay in implementation and scalation of federated WP6, WP7, WP15 Focus on National 1+MG/GDI infrastructures that are ready such as France and Sweden first,
diagnostic research approach [(i) likelihood: High, then progress according to readiness status.
(ii) severity: Medium]
9 Delay in data availability and sharing [(i) likelihood: WP6 According to data availability status, the sharing of data will be phased. While the risk for
High, (ii) severity: Medium] some centres for delay is high, the overall risk is medium or lower since delivering centres
will compensate for delayed ones.
10 Delay in or Slower distributed re-analysis of REAL WP6, WP7, WP15 Apply to use EuroHPC resources. Include additional local clusters for the analysis. Prioritise
datasets [(i) likelihood: Medium, (ii) severity: reanalyses with higher solve rate. Phasing of re-analysis according to readiness levels.
Medium]
11 Long-read technologies (and analyses) do not WP7, WP8 Less recent (and/or contributed) data available than estimated, enlarge focus on re-analysis
progress as fast as anticipated [(i) likelihood: of already available data (6/7). Purposely, long-read data processing is based on three
Medium, (ii) severity: Medium] technologies to mitigate risk and adapt (PacBio, ONT, Bionano).
12 Too few (matched) DNA-RNA (or other -omics) WP8 Integrative tools can largely be employed on already available data (e.g., Solve-RD); select
datasets provided by partners [(i) likelihood: best available use cases from new data. Data and tool federation (by 6-8) will allow including
Medium, (ii) severity: Medium] more data.
13 EHR access and linkage between registries and WP9 Good feasibility of initially selected use-cases; enrolment of alternative ERDERA partners
social security data restricted by local regulations to project; seek support from regulators & interaction with the EHDS.
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Critical risks & risk management strategy
Grant Preparation (Critical Risks screen) — Enter the info.
Risk Description Work Package Proposed Mitigation Measures
number No(s)
and difficult to generalize across Europe [(i)
likelihood: Medium, (ii) severity: High]
14 Data content and/or quality of patient cohorts WP9 Quality check of dataset extracts and metadata for cohort selection, review of existing pilot
insufficient [(i) likelihood: Low, (ii) severity: High] studies using selected cohorts, data improvement measures from DSH for still active cohort
studies.
15 Insufficient predictive power of disease progression WP9 Modify analytical approaches, obtain more / better data by international collaborations.
models [(i) likelihood: Low, (ii) severity: High]
16 Delay in Outcome Research validation studies at WP10 Expand the network of study sites by additional ERN sites to ensure rapid recruitment.
some clinical site [(i) likelihood: Medium, (ii)
severity: High]
17 PROMs not sensitive to change in the timeframe of WP10 Highly sensitive indirect COAs will be included and anchored to patient-relevant core
validation studies (2 years) [(i) likelihood: Medium, impacts.
(ii) severity: High]
18 Delays on outcome research clinical studies WP10 Feasibility assessment of clinical sites. Early initiation of regulatory and ethics clearance
implementation due to regulatory or ethics issues [(i) tasks. Build on successful cross border cases of implementation of mHealth.
likelihood: Medium, (ii) severity: High]
19 Patients not adhering to the clinical protocol [(i) WP10 Patient Engagement workshops in collaboration with EURORDIS, ePAGs and National Pos.
likelihood: Low, (ii) severity: High] Clinical protocol co-designed with patients.
20 No positive results from the PoC studies [(i) WP11 Leverage on the experience from the high number of highly promising results obtained using
likelihood: Medium, (ii) severity: High] various ATMPs platforms in preclinical models.
21 Difficult to implement ASO platform beyond WP12 Not all components have to be implemented locally, treatment board, ASO design and testing
initial partners, especially in centres from can be done at LUMC and UT. Proactive support from ERNs for the individualised part of
underrepresented countries [(i) likelihood: Medium, platform implementation.
(ii) severity: Medium]
22 New resources require significant modifications WP13 RD-VP flexibility and design, with minimal requirements for onboarding resources.
on the design and implementation of the RD-
VP and its components, beyond the capacity of
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Critical risks & risk management strategy
Grant Preparation (Critical Risks screen) — Enter the info.
Risk Description Work Package Proposed Mitigation Measures
number No(s)
the allocated resources [(i) likelihood: Low, (ii)
severity: Medium]
23 Resources experiencing legal or IPR barriers to WP13 Legal, regulatory and IPR support from ERDERA experts to de-risk onboarding process.
onboard [(i) likelihood: Medium, (ii) severity:
Medium]
24 CRN and funded projects deploy insufficient WP12 Earmarked CRN and JTC grant funding contributing to EREDERA Data Hub (ii) Added
resources to contribute to the ERDERA-Data Hub value
[(i) likelihood: High, (ii) severity: Medium] demonstrated for the first projects contributing to the Data Hub.
25 Complexity of data and data access is greater than WP14 Feasibility assessment of the request to DSH including flexible data processing scenarios.
expected, or inability to address on-time the demand FAIRification targets will be reprioritized to ensure a critical mass is reached for analysis.
[(i) likelihood: High, (ii) severity: Medium] Methodology can be developed based on historical data, as well as on simulated data
addressingEthical and Regulatory related issues.
26 Data and analysis system not meeting the CRN WP15, WP14 Revise AGILE methodology with short-term sprints and promote higher involvement of end
needs [(i) likelihood: Low, (ii) severity: Medium] users in the process.
27 Insufficient compute and/or storage capacity WP9, WP6, WP7, Collaboration with EU compute and storage initiatives (already initiated). Limit processing
available for the CRN and funded project needs [(i) WP15, WP14, to downstream data (e.g. VCF files) and exclude raw data from analysis (e.g. full sequences).
likelihood: Medium, (ii) severity: Medium] WP10, WP8 Prioritise focused analyses (e.g., on particular patient groups).
28 Insufficient resources to code portable pipelines and WP7, WP15, WP8 Leverage existing open-source pipelines. Rely on locally implemented pipelines (even if not
support local implementations for diagnostics. [(i) portable versions).
likelihood: Low, (ii) severity: Medium]
29 GDI infrastructure and/or GA4GH standards not WP6, WP7, WP15, Bring in alternative solutions developed and/or implemented by participating partners in
fit for purpose on time for federated learning [(i) WP14 other projects (e.g. Genomed4All, DataSHIELD).
likelihood: Medium, (ii) severity: Medium]
30 Fail to collaborate with HPO to extend its content WP16 Collaborative generation of a stand-alone ontology of prenatal phenotypes of RD and an
to prenatal echographic phenotypes [(i) likelihood: ontological module in ORDO.
Low, (ii) severity: Medium]
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Critical risks & risk management strategy
Grant Preparation (Critical Risks screen) — Enter the info.
Risk Description Work Package Proposed Mitigation Measures
number No(s)
31 Difficulty engaging with experts and patient WP16 Revise prioritization of RD based on opportunities for collaboration after specific
organisations annotating RD with functional dissemination efforts to engage with stakeholders.
consequences [(i) likelihood: Medium, (ii) severity:
Medium]
32 Low engagement of experts [(i) likelihood: Low, (ii) WP17, WP18 Leverage on existing database of already committed experts. Training and engagement
severity: High] activities. Recognition of the expert support to projects funded by ERDERA.
33 Low awareness of the services provided [(i) WP17, WP18 Maximizing the dissemination of the services by the communication & Dissemination task
likelihood: Low, (ii) severity: Medium] and by ERDERA Partner.
34 Non-availability of education and training providers WP20 Recruitment of training providers from ERDERA partners, extended to national systems
for emerging training needs [(i) likelihood: Medium, (through NMGs) and to collaboration with other initiatives.
(ii) severity: Medium]
35 Insufficient number of education and training WP20 Increased awareness-raising and dissemination efforts in collaboration with 2, targeted at
participants [(i) likelihood: Low, (ii) severity: national systems (through NMGs) and RD research ecosystem (through ERDERA partners
Medium] and
collaborations).
36 In Vitro Transcription Amplification of DNA or WP21 Development of recombinant production in yeast (ART-ARNm)
RNA fails [(i) likelihood: Low, (ii) severity:
Medium]
37 Therapy response and immunogenicity evaluation WP21 Application of relevant "use cases" (i.e., known gene therapy tools) to develop the test
hampered by poor efficacy and/or delays in the platforms in T21.5)
technology development of T21.1 - T21.4 [(i)
likelihood: Low, (ii) severity: Medium]
38 Low frequency of antigen-specific B cells in WP21 Samples from patients with preformed immunity or vaccinated as model systems to establish
peripheral blood limiting the detection and/or the B-cell methods.
selection and expansion of specific B cells [(i)
likelihood: Medium, (ii) severity: Medium]
39 There are not enough projects with high potential WP22 Initial ERDERA strategy fostering preclinical development as potential target for the calls
122
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Critical risks & risk management strategy
Grant Preparation (Critical Risks screen) — Enter the info.
Risk Description Work Package Proposed Mitigation Measures
number No(s)
for acceleration, resources to bring projects to & matching the strategy of interested investors. Opening the accelerator services to external
investment-readiness, and interest from investors. funding organisations/ initiatives with interest in RDs.
[(i) likelihood: Low, (ii) severity: High]
40 NMG not implemented in all EU participating WP23 Potential NMGs already identified in 15 (out of 31) EU countries. Dissemination of the
countries after the second year of ERDERA [(i) added value of existing NMGs (established in EJP RD). Close collaboration with national
likelihood: High, (ii) severity: Medium] stakeholders.
41 Inactive or non-compliance of NMGs with the WP23 Close monitoring of NMG activities and Financial support provided to active ones.
foreseen activities [(i) likelihood: Medium, (ii)
severity: Medium]
42 Potential lack of commitment by underrepresented WP24 Involvement, by design, of national representatives (policy makers, academics, clinicians,
countries and/or modifications in national priorities/ patient representatives, industry) and good communication with the national stakeholders.
national contact points (due to governmental shifts)
[(i) likelihood: Medium, (ii) severity: Medium]
123
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PROJECT REVIEWS
Project Reviews
Grant Preparation (Reviews screen) — Enter the info.
Review Timing Location Comments
No (month)
RV1 12 online 5 experts
RV2 24 online 5 experts
RV3 36 online 5 experts
RV4 48 online 5 experts
RV5 60 online 5 experts
RV6 72 online 5 experts
RV7 84 online 5 experts
124
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Part B: technical description
ERDERA - EUROPEAN RARE DISEASES RESEARCH ALLIANCE
[This document is tagged. Do not delete the tags; they are needed for processing.] #@APP-FORM-HECOFUND@#
HISTORY OF CHANGES
Version Changes Page
(date)
Annex 1 Part A
29.02.2024 Correction of the ISO code for Portugal (from PO to PT) and Poland (from PO to NA
PL)
Change of Beneficiaries acronyms (from Utartu to UTARTU; from ICS to VHIR; NA
from AMC to AUMC; from Uhasselt to UHASSELT; from AOU MEYER IRCCS
to AOU Meyer IRCCS; from Centogene AG to Centogene; from Copenhagen
Economics to CE; from REGIONH (Copenhagen University Hospital) to
REGIONH; from FHG to Fraunhofer; from RS (GMS-GMCK) to RS; from MAPI
Research Trust to MRT; from SCIENSANO to Sciensano; from SONIO to Sonio;
from University of Campania L. to UNICAMPANIA; from University of Crete to
UoC; from Cadi Ayyad University to CAU; from Aalborg University Hospital to
Aalborg UH; from Aarhus Univeristy Hospital to Aarhus UH; from IABS to IABS-
EU; ; from CRG to CRG-CERCA; from GMS-Skane Region to GMS-RS.
Removal of Beneficiaries: 59-Fraunhofer UK; 62-GA UK; 85-UNEW; 86-CUH; 90- NA
PMU; 128-ULEIC;143-QUB-UK; 149-UCL; 151-UCAM.
Addition of Beneficiaries: 59-IFD; 62-MZd; 85-MoH SR; 86-RDG; 90-JSI; 128- NA
UANTWERPEN; 148-IPG; 149-UO.
Addition of Affiliated Entities to Beneficiaries: 60-FSJD-CERCA – 60.1-HSJD; 62- NA
MZd – 62.1-AZV; 136.-LMU – 136.1-KUM.
Addition of Associated Partners: 167*-Fraunhofer UK; 168*-GA UK; 169*-UNEW; NA
170*-CUH; 171*-ULEIC; 172*-QUB-UK; 173*-UCL; 174*-UCAM.
Removal of Associated Partners: 170*-Utrecht UMC; 171*-LH (LabCorp). NA
Addition of Deliverables: D1.14 Report on cumulative expenditure incurred (M12); NA
D1.7 Annual Work Plan 6 (M69); D2.1 Project website (M3).
Removal of Deliverables: D1.13 Annual Progress Report 6 (M75). NA
Modification of Deliverables due date: D1.8 from M15 to M18; D1.9 from M27 to NA
M36; D1.10 from M39 to M54; D1.11 from M51 to M72; D1.12 from M63 to M84.
Change of Deliverables Lead Beneficiary: D13.1, D13.2, D13.3 from NA
Utwente/INSERM to INSERM; D14.1, D14.2, D14.3 from AMUC/SRUMC/LUMC
to LUMC; D22.2, D22.3 from EATRIS/FFRD to EATRIS; D24.1, D24.2 from
VULSK, REUH to VULSK; D24.3, D24.4 from REUH, VULSK to REUH; D24.5,
D24.6, D24.7 from AICIB, IMGGE to AICIB; D25.1, D25.2 from ASU-FC, HSJD
to ASU-FC.
Removal of Milestones: MS2.1 Initial set of tools and activities (M6). NA
Precision in WP 1 description for the task 1.3 “Monitoring of the Partnership NA
activities” that this task will also consider criteria on ERDERA Results
exploitability by non-rare conditions; application of these criteria to funded research
activities will be considered in the funding opportunities. This addresses the
recommendation provided through the proposal reviewers’ feedback.
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Change of PIC from 998732274 to 919322739 for 20-AUMC; from 882251279 to NA
939076692 for 59-IFD; from 880953613 to 999602073 for 87-REGIONSYD; from
884513125 to 997381064 for 130-AalborgUH; and from 904861591 to 999977172
for 174-UCAM
20.03.2024 Addition of Deliverables: D1.14 Report on cumulative expenditure incurred (M12) NA
The deliverable “Annual Progress Report 1” has the delivery date been shifted from NA
Month 18 to Month 24
Removal of Beneficiary 137. LUni NA
Addition of Affiliated Entities to Beneficiaries: 1. INSERM – 1.1 CAD. NA
Change of PIC from 944342531 to 878333449 for 43-CENTOGENE NA
30.04.2024 Harmonisation of Beneficiaries acronyms from ISCIII-IIIER/ISCIII-SGIPRI to NA
ISCIII; from CUH (NIHR-RDBR) to CUH; from UTartu to UTARTU; from ICS/
and ICS/VHIR to VHIR; from Astra Zeneca to AZ; from AMC or AMUC to
AUMC; from Uhasselt to UHASSELT; from Centogene to CENTOGENE; from
Copenhagen Economics to CE; from RS (GMS-GMCK) to RS; from MAPI
Research Trust to MRT; from SCI to Sciensano; from GMS-Skane Region to GMS-
RS; from Otago University to UO; from NIHDRJ to INSA; from Rare Care Centre
to RCC; from Sorbonne University to SU; from Motol University to MUH; from
GFGGRD to GERAD
Update of the Task 1.3 description to address the reviewers shortcoming and NA
recommendation on the under-represented countries involvement.
Update of Task 1.1 to address the reviewers recommendation on synergy with the NA
EU Cancer Mission and the EU Beating Cancer Plan
Update of Task 1.4 to address the reviewers recommendation, from the NA
sustainability perspective, on the high-level, open, interactive, systematic, and
appropriately resourced process to co-create the articulation of problems and
solutions that make best use of available resources.
Removal of Affiliated entity “60.1- HSJD” and integration as beneficiary “150 - NA
HSJD”
Addition of the beneficiary “MSW” that was missing in the task 1.3 “Monitoring of NA
the Partnership activities”
Addition of the beneficiary “NKUA” that was missing in the contributing NA
organisation list of task 6.2. “Data standardisation, sharing, and federation” and task
6.3 “Data access and returning research results”
Addition of the beneficiary “CRG-CERCA” that was missing in the contributing NA
organisation list of task 14.2 “Data ingestion tools”
Harmonisation of the acronym of the following organisations listed in the task 25.3 NA
“Promote the International Dimension of the CRN of ERDERA by building global
networks among CRNs and patient organizations”: from “CHEO-RI*(Care4Rare
NMD4C)” to “CHEO-RI*); from “Rare Care Centre*” to “RCC*”.
WP23 description updated within the section “Objectives” with one last sentence to NA
further address the proposal reviewers recommendation on the link with ongoing
initiatives and structures under the EU Cancer Mission and EU Beating Cancer Plan.
Addition of VHIR as contributing beneficiary to tasks 17.1. “Execution of the NA
Mentoring Program” and 17.2 “Consultancy service”
30.05.2024 Harmonisation of Beneficiaries acronyms from Fraunhofer to FHG and from NA
UPPMD to WDO
Removal of 114 UKA from WP20 task NA
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Update of Person-months table in WP2, WP20, WP25 Associated with document Ref. Ares(2024)5602406
NA - 02/08/2024
Update of the names of the Deliverables D1.8, D1.9, D1.10, D1.11 and D1.12 from NA
“Annual Progress Report” to “Periodic Progress Report”
Completion of the list of organisation mentioned as contributors next to the tasks NA
6.1, 6.2 and 6.3 to precisely show all the involved organisations.
Update of the list of the organisations involved in tasks 9.1, 9.4 and 10.1 by adding NA
the organisation “KUM” (the affiliated entity of the beneficiary “LMU”)
Completion of the list of organisation mentioned as contributors next to the tasks 3.1 NA
and 3.2 to precisely show all the involved organisations.
18.06.2024 Update of the due dates (in Months) of the Periodic Progress Reports as per the EC NA
recommendation (D1.8, D1.9, D1.10, D1.11 and D1.12 updated to M26, M44, M62,
M74 and M84 respectively)
Correction of the organisations list leading the task 21.1 by re-introducing 63-GNT NA
as co-leader
Correction of the organisations list leading the task 21.2 by re-introducing 55-FHG NA
as co-leader
Correction of the organisations list leading the task 21.2 by re-introducing 124- NA
CNRS as co-leader
Addition of 70-IMAGINE to the list of the organisations leading the task 21.4 NA
Update of the organisations list contributing to task 11.4 NA
Annex 1 Part B
29.02.2024 Addition of the table of content 5
Addition of List of Abbreviations 7
“Heading 3” numbering of the section “1.1 Objectives and ambition of the 13, 14, 15, 16
Partnership”
“Heading 3” numbering of the section “1.2 Methodology” 18,19, 24, 25, 26
“Heading3” numbering of the section “2.1 Project’s pathways towards impact” 26, 27, 28, 29, 30
“Heading 3” numbering of the section "2.2 Measures to maximise impact” 34, 36
Table 3.1h, update of the partners' number: from 54-FTELE to 5-FTELE; 41
Table 3.1h, update of partner from: 15-ICS to 15-VHIR 41
Table 3.1h: ‘Purchase costs’ items update: beneficiary 22- EATRIS increase of 41
amount justified, change from 15-ICS to 15-VHIR and change from 136-LUM to
136.1-KUM)
Table 3.1i, update of the partners' number: from 147-Vinnova to 144-Vinnova; from 43
15-CIHR* to 152-CIHR*; from 156-DFG* to 153-DFG*; from 158-FRQS* to 155-
FRQS*; from 168-SNSF* to 165-SNSF*
Table 3.1i: ‘Other costs categories’ items (e.g. internally invoiced goods and 43
services) update: addition of new beneficiaries’ budget: 59-IFD and 62-MzD,
decrease of budget beneficiary 7-ZonMw
Table 3.1j addition of the third party providing ‘In-kind contributions "Protisvalor 44
Mediterranée SAS (PVM)" for the beneficiary 37-AMU
“Heading 3” numbering of the section "3.2 Capacity of participants and consortium 45
as a whole”
Addition of section “4. Ethics self-assessment” including the ethics self-assessment 49
submitted in the proposal Part A and the result of the Ethics Screening Report.
Deleted from the header the following reference text: “Call: HORIZON-HLTH- NA
2023-DISEASE-07-01:European Partnership on Rare Diseases” and “EU Grants:
Application form (HE Cofund): V3.1 -08.09.2022”
Updated the footer as follow “"[Proposal number] – [Proposal acronym] – Part B – NA
[Page number (starting at 1 for Part B)]"
Tables 3.1a, 3.1b, 3.1c, 3.1d, 3.1e and 3.1f removed from section 3.1. Their NA
information is included in Part A.
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20.03.2024 Addition of a Paragraph with references at the end of the section “1.1.1 Europe’s 13
journey and commitment to Rare Diseases” and to further support the “vision and
mission” of ERDERA, addressing thus the proposal reviewers’ feedback on the
“excellence criterion”.
Precision in the section “1.2.5 Data Management Plan” that the Data Management 24
Plan will be constantly updated, and the resulting version will be submitted at each
reporting period to comply with the European Commission request for precision.
Section “2. Impact” updated to accommodate the Sustainable Development Goals 26, 29, 30
inclusion and their linkage with respective ERDERA activities and targets.
Modification of the cells “mitigation measures” in the table Impact for the Expected 27
outcome 1 and the expected outcome 2, further clarifying how potential negative
impacts are mitigated, and addressing the proposal reviewers’ feedback on the
impact criterion.
Figure 4 added to show the synergies and integrations between work packages. 40
Update of Table 3.1h: ‘Purchase costs 41
Addition of paragraphs in the section “3.2.1. Governance”, adding details regarding 47
the decision-making process, the links to the Strategic Research and Innovation
Agenda and the annual workplans, drawing from what is described in the AWPY1,
addressing thus the proposal reviewers’ feedback on the “implementation”
criterion.
30.04.2024 Update of Table 3.1g: 'Subcontracting costs' items, items following request of EC. 49
Update of Table 3.1h: Purchase costs items following request of EC. 49
Update of Table 3.1i: 'Other costs categories' items following request of EC. 62
The Governance section was updated according to the suggestions provided by DG 66-69
RTD.
30.05.2024 Harmonisation of Beneficiary acronym from UPPMD to WDO 71
Update of Table 3.1h: ‘Purchase costs’ 56, 57, 61, 64, 635
Update of the section 4.1 “The Ethics Screening Report” with the additional Ethics 83-86
Requirements
18.06.2024 Update of Table 3.1h based on EC comments 53, 54, 55, 56, 57,
58, 62, 64
AWP Y1 Page number of
AWP Y1
document
29.02.2024 WP2: addition of a sentence to add the D2.1 “Project website” in the description of 31
the text
New Beneficiary 59-IFD has been added 34, 158
New Beneficiary 62-MZd has been added 34, 159
The affiliated entity 62.1 - AZV has been added 34, 159
Beneficiary 145-Vejle hospital has been merged with Beneficiary 87-REGIONSYD 43, 167, 168
New Beneficiary 149-UO has been added 44, 46, 47, 124,
125, 127, 185
New Beneficiary 128-UANTWERPEN has been added 44, 46, 47, 178
New Beneficiary 148-IPG has been added 44, 46, 47, 184
Addition of the partner 84-NKUA as contributor in the tasks 6.2 and 6.3 46, 47
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The affiliated entity 136.1 - KUM has been added 57, 242
Beneficiary 59-Fraunhofer UK has been switched to Associated Partner 167*- 58, 189, 190
Fraunhofer UK
Beneficiary 62-GA UK has been switched to Associated partner 168*-GA UK 58, 190
Partner 55-FHG has been removed of the contributors of the WP11 (General table of 66, 67
WP11 and Task 11.3
Change on the WP13 lead: from UTWENTE/LUMC to INSERM (WP & 84, 155
deliverables): changes in the 1st table and in the task 13.1 and in the table 2.3.b
“AWP set of activities” and in the description of the partners
Associated Partner LH has been removed 93, 95, 109, 113,
114, 190
Beneficiary 90-PMU has been removed and replaced by Beneficiary 141-PLUS in 97, 98, 99, 168
the impacted tasks
Affiliated entity Fraunhofer IBMT has been deleted 100, 106, 193
Beneficiary 15-ICS has been replaced with 15-VHIR 112, 144, 152, 209
Contributor 140-PEI has been replaced by 55-FHG in task T21.3.6 116
New Beneficiary 85-MoH SR has been added 123, 124, 125, 127,
166, 167
New Beneficiary 86-RDG has been added 123, 124, 125, 127,
166, 167
New Beneficiary 90-JSI has been added 124, 125, 127, 168
Addition of new National Mirror Groups to be developed in the Y1 and later in the 125
WP23
Beneficiary 13-UKHD partner’s description of “Expertise, available 143
infrastructure(s)” has been updated to reflect the involvement of all the research
teams
Addition in the partner description of partner 37-AMU of a text precising that AMU 152
will have their administrative tasks performed by a spin off company
Mention of the Gender equality plan of the partner 65-Region Stockholm in the 160
admin form and in the AWP Y1
Beneficiary 86-CUH has been switched to Associated partner 170*-CUH 166, 190
Beneficiary 85-UNEW has been switched to Associated Partner 169*-UNEW 166, 190
Beneficiary 128-ULEIC has been switched to Associated Partner 171*-ULEIC 177, 190
Beneficiary 143-QUB-UK has been switched to Associated Partner 172*-QUB-UK 180, 190
Beneficiary 149-UCL has been switched to Associated Partner 173*-UCL 180, 190
Beneficiary 151-UCAM has been switched to Associated Partner 174*-UCAM 182, 190
Associated Partner Utrecht UMC has been removed 190, 199
Partner numbers from 137 to 174 have been changed NA
Change of Beneficiaries acronyms (from Utartu to UTARTU; from I; from AMC to NA
AUMC; from Uhasselt to UHASSELT; from AOU MEYER IRCCS to AOU Meyer
IRCCS; from Centogene AG to Centogene; from Copenhagen Economics to CE;
from REGIONH (Copenhagen University Hospital) to REGIONH; from FHG to
Fraunhofer; from RS (GMS-GMCK) to RS; from MAPI Research Trust to MRT;
from SCIENSANO to Sciensano; from SONIO to Sonio; from University of
Campania L. to UNICAMPANIA; from University of Crete to UoC; from Cadi
Ayyad University to CAU; from Aalborg University Hospital to Aalborg UH; from
Aarhus Univeristy Hospital to Aarhus UH; from IABS to IABS-EU; ; from CRG to
CRG-CERCA; from GMS-Skane Region to GMS-RS; from Roche (Spartx) to
ROCHE, from FDB (Fujifilm) to FDB, from NIHDRJ to INSA, from GFGGRD to
GERAD, From INSERM_CAD to CAD
20.03.2024 Addition of a sentence regarding resource allocation was added in the monitoring 26
task in the WP1 on the AWP Y1.
Addition of a reference regarding the work on strategy and alignment aspects in EJP 241
RD
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Update of tables Table 2.3.d: Summary of staff effort for Year 1, Table 2.3.d - Bis: NA
Summary of staff effort for the three years, Table 2.3.e: ‘Purchase costs’ items for
the three years and for Year 1
Removal of duplicated tables in Annual Work Plan Year 1: Table 3.1g: NA
‘Subcontracting costs’ items, Table 3.1i: ‘Other costs categories’ items (e.g.
internally invoiced goods and services), Table 3.1j: ‘In-kind contributions’ provided
by third parties
Removal of a beneficiary: 137-Luni NA
30.04.2024 Removal of the following organisations from the Person-Month table of WP1 to 17
comply with the budget distribution for Year 1: ELS (52); FFRD (29); FTELE (5);
ISCIII (72); LMT (6)
Addition of the mention ‘Beneficiaries providing in-kind contribution’ in the efforts 17, 36, 73
table (Person-Months table) in the WP1, WP3 and WP11 description.
WP1, T1.2. Governance & strategy, The following sentence was revised to 22
underline widening measures. “The strategic process will involve additionally the
MAB and the National Alignment Board, the latter being specifically important for
the implementation of measures related to the active participation of countries and
widening measures”. The following sentence was revised to underline widening
measures.
Removal from the WP2 “Person Months” table the beneficiaries with no budget in 30
WP2 (i.e., INSERM, EURORDIS, UPPMD, FFRD, TEDDY) as they will be
contributing to these activities within their other work packages.
Harmonisation of Beneficiary acronym from Tuscreg to RT(Tuscreg) 36
The duplication of the 'ISCIII' organization in the listing of the contributors of task 38
3.1, 'Call topic selection for JTCs and Clinical Trials' has been removed.
Revision of a sentence in the ST3.2.1. "Preparation of the first joint transnational 39
call and establishment of the joint call secretariat", underlining the "widening
measures", to the proposal reviewers feedback on the involvement of widening
countries.
Correction of the numbering of the subtask “Ethics evaluation of projects 40
recommended for funding of the first joint transnational call” from “ST3.2.3.1” to
“ST3.2.3”
Correction of the numbering of the subtask “Funding decision of the first joint 41
transnational call” from “ST3.2.4.1” to “ST3.2.4”
Correction of the numbering of the task “Topic selection for the second joint 41
transnational call” from “T3.1.2” to “T3.1_(2)”
Correction of the numbering of the task “Joint Transnational call - implementation 41
of the second call” from “T3.2.2” to “T3.2_(2)”
Correction of the numbering of the subtask “Preparation of the second joint 41
transnational call and establishment of the joint call secretariat” from “ST3.2.2.1” to
“ST3.2.1_(2)”
Removal of the following organisations from the Person-Month table of WP4 to 42
comply with the budget distribution for Year 1: IT-MOH (76) , CSO-MOH (49)
Precision of the contribution (in-kind) provided by the beneficiary “HRB (67)” the 42
Person-Month table of WP4
Harmonisation of Beneficiary acronym from UTartu to UTARTU 47, 111
Harmonisation of Beneficiary acronym from GMS-Region Skane to GMS-RS 51
Harmonisation of the precision of the affiliated entity in charge: from 51,94,95
INSERM_CAD to CAD
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Harmonisation of Beneficiary acronym from Centogene to CENTOGENE 52
Removal of the following organisations from the Person-Month table of WP7 to 52
comply with the budget distribution for Year 1: CIBER (125), UMCG (19), CUH
(171), EURORDIS (26), INSERM _ Orphanet (1), CHU Dijon (46), UGENT (118),
RS (65), GMS - RS (146), IBG (68), IMAGINE (70).
Correction of the number of the Associated partner “CUH*” to 171 in the Person- 59
Month table of WP8
Removal of the following organisations from the Person-Month table of WP8 to 59
comply with the budget distribution for Year 1: AMU (37), CNAG (10), IBG (68),
OPBG (88), REGIONH (48)
Removal of the following organisations from the Person-Month table of WP9 to 64
comply with the budget distribution for Year 1: INSERM (1), TUM (12)
Removal of the following organisations from the Person-Month table of WP10 to 70
comply with the budget distribution for Year 1: MRT (79), CVBF (50), Sciensano
(97), EURORDIS (26), QUB-UK* (173), RDI (34), UPPMD (120).
Harmonisation of Beneficiary acronym from ICS-VHIR to VHIR 71
Harmonisation of Beneficiary acronym from SCI to Sciensano 72
Addition of 105-FTELE in the efforts table Person-Months table) in the WP11 73
description.
Removal of the following organisations from the Person-Month table of WP11 to 73
comply with the budget distribution for Year 1: UC (28), INSERM_ART-ARNm
(1), INSERM_IT-GGB (1)
Addition of the beneficiary “FHG” that was missing in the contributing organisation 75
list of task 11.3 “Design the proof-of-concept studies to evaluate the selected
pipelines”.
Removal of the following organisations from the Person-Month table of WP12 to 75
comply with the budget distribution for Year 1: INSERM_U112 (UNISTRA) (1),
UPPMD (120), SRUMC (11), FSJD-CERCA (60), UKLFR (115)
Harmonisation of Associated partner acronym from Roche/ Roche (Spartx) to 79, 132
ROCHE
Removal of 128-UANTWERPEN in the efforts table (Person-Months table) in the 80, 90
WP13 and WP15 description.
The duplication of the 'LUMC' organization in the listing of the contributors of task 84
13.1 “VP/Data Service Hub steering” has been removed.
Harmonisation of the precision of the Beneficiary unit acronym from INSERM- 84, 96
Orphanet to INSERM_Orphanet
Correction of the acronym of the co-leading organization of task 13.2 “RD-VP 85
evolution and scaling up” from UT to UTWENTE
Change of Beneficiary acronym from EMBL-EBI to CRG-CERCA 89
Harmonisation of Beneficiary acronym from C-Path to C-PATH 89
Removal of the following organisations from the Person-Month table of WP15 to 90
comply with the budget distribution for Year 1: AIT (36)
Addition of 15-VHIR in the efforts table in the WP17 description. 101
Addition of VHIR as contributing beneficiary to tasks 17.1. “Execution of the 103 - 104
Mentoring Program” (and its subtasks 17.1.1, 17.1.2 and 17.1.3) and 17.2
“Consultancy service”.
Addition of Associated partner 159- Miltenyi in the contributors table 104
Removal of 105-TEDDY in the efforts table in the WP18 description. 104
Addition of Beneficiary 99- SFU in the contributors table 107
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Addition of the title of the subtask “ST23.2.1. NMG Responsibilities” (the subtask 107
was described but it lacked the title)
Harmonisation of Beneficiary acronym from UHasselt to UHASSELT 110, 111
Harmonisation of Beneficiary acronym from UTwente to UTWENTE 111, 117
Removal of Beneficiary UCSC, named twice in T20.4 120
Update of person-months for 1-INSERM in the efforts table in the WP21 122
description.
Harmonisation of Associated partner acronym from Astra Zeneca to AZ 129
Correction of the acronym of the Associated Partner from “AstraZeneca” to “AZ” 129, 133
in subtask 21.2.6 and task 21.5
Change of Associated partner acronym from FDB (Fujifilm) to FDB 130
Harmonisation of the precision of the Beneficiary unit acronym from Inserm_Target 132
(Nantes) to INSERM_TARGET/NANTES
Harmonisation of the precision of the Beneficiary unit acronym: from Inserm-U974 132, 14
to INSERM_U974
Removal of the following organisation from the Person-Month table of WP23 to 137
comply with the budget distribution for Year 1: UO (149)
Harmonisation of the precision of the Beneficiary unit acronym: from Inserm-IT- 140
GGB to INSERM_IT-GGB
Harmonisation of Beneficiary acronym from the old acronym “GFGGRD” to 146
GERAD the Person-Month table of WP24
Removal of the following organisations from the Person-Month table of WP25 to 149
comply with the budget distribution for Year 1: TEAMIT (2), c4c-S (122), UKHD
(13), UT (8), INSERM_IT-GGB (1)
Harmonisation of Beneficiary acronym from Sorbonne University to SU in the 149
Person-Month table of WP25
Harmonisation of Associated partner acronym from Rare Care Centre to RCC in the 149
Person-Month table of WP25
Update of the description of Beneficiary 24-APHP 167
Addition of the description of the new added beneficiary “150 – HSJD” 206
Update of the table listing the associated partners 215
Update of Table 2.3.d: Summary of staff effort for Year 1 (Leaders in bold) 217-224
following EC request.
Update of Table 2.3.e: ‘Purchase costs’ items only with ‘Purchase costs’ items for 225-236
Year 1 following EC request.
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Harmonisation of Beneficiaries acronyms from ISCIII-IIIER/ISCIII-SGIPRI to NA
ISCIII; from CUH (NIHR-RDBR) to CUH; from UTartu to UTARTU; from ICS/
and ICS/VHIR to VHIR; from Astra Zeneca to AZ; from AMC or AUMC to
AUMC; from Uhasselt to UHASSELT; from Centogene to CENTOGENE; from
Copenhagen Economics to CE; from RS (GMS-GMCK) to RS; from MAPI
Research Trust to MRT; from SCI to Sciensano; from GMS-Skane Region to GMS-
RS; from Otago University to UO; from NIHDRJ to INSA; from Rare Care Centre
to RCC; from Sorbonne University to SU; from Motol University to MUH; from
GFGGRD to GERAD
Harmonisation of Beneficiary acronym from RS(GMS-GMCK) to RS NA
Removal of Table 2.3.d - Bis: Summary of staff effort for the three years (Leaders in NA
bold) following EC request.
Update of the all the Associated Partners numbers following the addition of the NA
beneficiary “155 – HSJD”. The associated Partners being after “155 – HSJD”, each
of their number was thus increased by one (1).
Removal of the annex “Strategic Research and Innovation Agenda (SRIA)” NA
30.05.2024 Harmonisation of Beneficiary acronym from UPPMD to WDO 17,22,24,28,34,36,3
8,41,42,43,44,46,
72,76,89,90,112,11
5,118,120,198
Update of person-months for 2-TEAMIT in the efforts table in the WP2 and WP25 29
description.
Update of person-months for 99-SFU in the efforts table in the WP20 description. 112
Removal of UKA from WP20 tasks description and person-months 112-122
Update of person-months for 86-RDG in the efforts table in the WP23 description. 138
Update of Table 2.3.d: Summary of staff effort for Year 1 217
Completion of the list of organisation mentioned as contributors next to the tasks 50-52
6.1, 6.2 and 6.3 to precisely indicate all the involved organisations.
Update of the list of the organisations involved in tasks 9.1, 9.4 and 10.1 by adding 65, 67, 71
the organisation “KUM” (the affiliated entity of the beneficiary “LMU”)
Completion of the list of organisation mentioned as contributors next to the tasks 3.1 38-39
and 3.2 to precisely indicate all the involved organisations.
18.06.2024 Correction of the organisations list leading the task 21.1 by re-introducing 63-GNT 127
as co-leader
Correction of the organisations list leading the task 21.2 by re-introducing 55-FHG 128
as co-leader
Correction of the organisations list leading the task 21.3 by re-introducing 124- 129
CNRS as co-leader
Addition of 70-IMAGINE to the list of the organisations leading the task 21.4 131
Update of the organisations list contributing to task 11.4 74
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Annex 2
18.06.2024 Transfert of budget (total cost: 31,475.00 € ; EC contribution: 163,327.50 €) from "1 NA
INSERM _ Institut national de la santé et de la recherche médicale" to the Additional
Beneficiary "59 IFD _ Innovation Fund Denmark".
All management budget is taken from the WP3 CENTRAL BUDGET - Evaluation
meetings JTCs2025/2026 (Other goods, work and services) and the funding budget is
taken from the central enveloppe for JTCs at "1 INSERM". . Concerned work
packages: WP1, WP3
Transfert of budget (total cost: 21,422.50 € ; EC contribution: 86,780.25 €) from "1 NA
INSERM _ Institut national de la santé et de la recherche médicale" to the Additional
Beneficiary "62 MZd/AZV _ Ministerstvo Zdravotnictvi Ceske Republiky" And Its
Affiliated Entity "62.1 AZV _Czech Health Research Council".
All management budget is taken from the WP3 CENTRAL BUDGET - Evaluation
meetings JTCs2025/2026 (Other goods, work and services) and the funding budget is
taken from the central enveloppe for JTCs at 1 INSERM. . Concerned work packages:
WP1, WP3
Transfert of budget (total cost: 125,175.00 € ; EC contribution: 62,587.50 €) from NA
"IBMT (Germany) that was Initially affiliated entity of 167- Fraunhofer UK" to "10
CNAG _ Consorcio Para La Explotacion Del Centro Nacional De Analisis
Genómico". It is a budget for training and capacity building activity (WP20) managed
by CNAG for further distribution (central budget).
"IBMT" (the previous affiliated entity of Fraunhofer UK) was having this budget.
IBMT withdrew and is not involved anymore in ERDERA. The task is transfered to
WP Leaders until allocation of the task to another ERDERA Partner. Concerned work
packages: WP20
Transfert of budget (total cost: 3,750.00 € ; EC contribution: 1,875.00 €) from "IBMT NA
(Germany) that was Initially affiliated entity of 168- Fraunhofer UK" to "1 INSERM
_ Institut national de la santé et de la recherche médicale". Initially located at IBMT
(fraunhofer UK affiliated entity) for attenfing the ERDERA General Assembly
meeting. This Budget is centralised at INSERM: budget for attending the ERDERA
General Assembly meeting (central budget).
All Organisations have the same budget for ERDERA General Assembly meeting
participation. Concerned work packages: WP1
Transfert of budget (total cost: 268,667.50 € ; EC contribution: 134,333.75 €) from NA
"170 UNEW_University Of Newcastle Upon Tyne" to "1 INSERM _ Institut national
de la santé et de la recherche médicale". This Budget was initially centralised at
UNEW to be allocated for Train the trainer model: personnel cost per National
Training Provider to perform one training activity per country for the first three years
of ERDERA. Transferred to INSERM (central budget).
This budget is centralised at INSERM in WP23 because it was not directly allocated
to University of Newcastle but to be reallocated later in the project to other ERDERA
Partners. Concerned work packages: WP23
Transfert of budget (total cost: 77,850.00 € ; EC contribution: 38,925.00 €) from "1 NA
INSERM _ Institut national de la santé et de la recherche médicale" to the Additional
Beneficiary "90 JSI _ Institut Jozef Stefan".
Budget transfer from central enveloppe located at Coordination "1 INSERM" for
National Mirror Group Activities (WP23) and travel costs for the General Assembly
meetings participation (WP1). Concerned work packages: WP1, WP23
Transfert of budget (total cost: 63,600.00 € ; EC contribution: 32,557.50 €) from "1 NA
INSERM _ Institut national de la santé et de la recherche médicale" to the Additional
Beneficiary "149 UO _ University of Otago".
Budget transfer from central enveloppe located at Coordination "1 INSERM" for
National Mirror Group Activities (WP23), the Clinical Research Network Diagnostic
Reseach Stream (WP6) and travel costs for the General Assembly meetings
participation (WP1). Concerned work packages: WP1, WP6, WP23
Transfert of budget (total cost: 52,500.00 € ; EC contribution: 26,250.00 €) from "1 NA
INSERM _ Institut national de la santé et de la recherche médicale" to the Additional
Beneficiary "148 IPG _ Institut de Pathologie et de Génétique" in Belgium (Wallonian
Part added to address request from Member State representative).
Budget transfer from central enveloppe located at Coordination "1 INSERM" for
Clinical Research Network Diagnostic Reseach Stream (WP6) and travel costs for the
General Assembly meetings participation (WP1). Concerned work packages: WP1,
WP6
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Transfert of budget (total cost: 51,250.00 € ; EC contribution: 25,625.00 €) from "147 NA
VIB _ Vlaams Instituut Biotechnologie Flanders Institute For Biotechnology" to the
Additional Beneficiary "128 UANTWERPEN _ Universiteit Antwerpen".
Part of the Budget from "VIB" transferred to "UANTWERPEN" (as per their request).
VIB is a Belgian partner (Flammish part). Concerned work packages: WP1, WP6
Transfert of budget (total cost: 124,312.50 € ; EC contribution: 62,156.25 €) from the NA
removed organisation "PMU _ PARACELSUS MEDIZINISCHE
PRIVATUNIVERSITAT SALZBURG - PRIVATSTIFTUNG _ Austria" to "141
PLUS _ PARIS-LONDON-UNIVERSITAT SALZBURG". The Principal
Investgator initially at "PMU", and the only one performing the tasks described
(WP19: Methodological Support), moved to "PLUS". The budget related to this task
is transferred to "PLUS".
"PMU" is terminated as no task left for this partner to be performed in ERDERA.
Concerned work packages: WP19
Transfert of budget (total cost: 3,750.00 € ; EC contribution: 1,875.00 €) from the NA
removed organisation "PMU _ PARACELSUS MEDIZINISCHE
PRIVATUNIVERSITAT SALZBURG - PRIVATSTIFTUNG _ Austria" to "1
INSERM _ Institut national de la santé et de la recherche médicale". Following the
termination of "PMU", the travel budget for attending the ERDERA General
Assembly meetings is transferred to Coordination "1 INSERM" (central budget).
Concerned work packages: WP1
Transfert of budget (total cost: 112,350.00 € ; EC contribution: 56,175.00 €) from "1 NA
INSERM _ Institut national de la santé et de la recherche médicale" to the Additional
Beneficiary "85 MoH SR _ Slovakian Ministry of Health".
Budget transfer from central enveloppe located at Coordination "1 INSERM" for
National Mirror Group Activities (WP23) and travel costs for the General Assembly
meetings participation (WP1). Concerned work packages: WP1, WP23
Transfert of budget (total cost: 79,850.00 € ; EC contribution: 39,925.00 €) from "1 NA
INSERM _ Institut national de la santé et de la recherche médicale" to the Additional
Beneficiary "86 RDG _ Rare Diseases Greece".
Budget transfer from central enveloppe located at Coordination "1 INSERM" for
National Mirror Group Activities (WP23) and travel costs for the General Assembly
meetings participation (WP1). Concerned work packages: WP1, WP23
Transfert of budget (total cost: 135,000.00 € ; EC contribution: 67,500.00 €) from "22 NA
EATRIS _ European Infrastructure for Translational Medicine _ Europe" to "15 VHIR
_ Vall d'Hebron Research Institute_Spain". "EATRIS" would transferred the
equivalent of 6PM/Y (18PM) to "VHIR" for implementing activities under WP17 -
Initiation of Mentoring process and feasibility study for consultancy services.
"VHIR" was already an affiliated partner of EATRIS under "EJP RD WP19" and has
provided key capacities in the setting-up, piloting and deployment of mentoring
support. Under ERDERA, it is key to build on the experience draw from the first
partnership for an efficient execution of the mentoring programme in place under
WP17. Key to the WP the Innovation Management ToolBox. Initially developed
under EJP RD with "VHIR" as lead manager for that effort, "VHIR" will allow to
retain knowledge and perform maintenance activities foreseen. Concerned work
packages: WP17
Transfert of budget (total cost: 108,558.125 € ; EC contribution: 54,279.0625 €) from NA
"140 PEI _ Bundesinstitut Fur Impfstoffe Und Biomedizinische Arzneimittel (Paul-
Ehrlich-Institut) _ Germany" to "55 FHG _ Fraunhofer Gesellschaft Zur Forderung
Der Angewandten Forschung EV". One of the researchers involved at PEI is joining
FHG and will perform his tasks at his new institution. Concerned work packages:
WP21
Transfert of budget (total cost: 73,125.00 € ; EC contribution: 36,562.50 €) from the NA
removed organisation "Vejle Hospital_Vejle Hospital, Sygehus Lillebælt" to "87
REGIONSYD_Region Syddanmark". Following "Vejle Hospital" internal decision
"Vejle Hospital" is terminated. Activity and budget in WP6 is transferred to "87
REGIONSYD". Concerned work packages: WP6
Transfert of budget (total cost: 3,750.00 € ; EC contribution: 1,875.00 €) from the NA
removed organisation "Vejle Hospital_Vejle Hospital, Sygehus Lillebælt" to "1
INSERM _ Institut national de la santé et de la recherche médicale". Following "Vejle
Hospital" internal decision "Vejle Hospital" is terminated. Travel budget to ERDERA
General assembly meetings participation is centralised at Coordination "1 INSERM"
(central budget). Concerned work packages: WP1
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Transfert of budget (total cost: 65,000.00 € ; EC contribution: 32,500.00 €) from "60 NA
FSJD-CERCA_Fundacio Privada Per A La Recerca I La Docencia Sant Joan De Deu"
to the Additional Beneficiary "150 HSJD_Hospital Sant Joan De Deu".
Upon request of these two organisations, "HSJD" is added as beneficiary and not as
affiliated entity of "FSJD-CERCA". The budget was initially planned under
beneficiary "60 FSJD-CERCA" to "HSJD". Concerned work packages: WP1, WP25
The budget for the first two JTCs from "7 ZonMw _ Zorgonderzoek Nederland Zon" NA
will be 1.8 million € per Call, thus 3.6 million € in total for the first 3 years of
ERDERA. Previously it was 2 million € per call. Consequently, there is a reduction
of 400 000 € in WP3 for "7 ZonMw".
Transfert of budget (total cost: 3,750.00 € ; EC contribution: 1,875.00 €) from the NA
removed organisation "Luni_UNIVERSITE DE LILLE" to "1 INSERM _ Institut
national de la santé et de la recherche médicale". Following "Luni" internal decision,
this initial beneficiary decided to withdraw from ERDERA. The initial budget planned
to attend the ERDERA General Assembly meetings is transfered back to "1 INSERM"
Coordination. Concerned work packages: WP1
Transfert of budget (total cost: 12,187.50 € ; EC contribution: 6,093.75 €) from the NA
removed organisation "Luni_UNIVERSITE DE LILLE" to "10 CNAG _ Consorcio
Para La Explotacion Del Centro Nacional De Analisis Genómico". Following "Luni"
internal decision, this initial beneficiary decided to withdraw from ERDERA. The
initial budget planned in task 20.4 is transfered back to the task Leader "CNAG" to
be reallocated (central budget). Concerned work packages: WP20
Transfert of budget (total cost: 716,000.00 € ; EC contribution: 358,000.00 €) from "1 NA
INSERM _ Institut national de la santé et de la recherche médicale" to its Affiliated
Entity "1.1 CAD_Collecteur Analyseur de Données". Following the creation of legal
entity Collecteur Analyseur de Données, "CAD" is added as affiliated entity of
"INSERM". All budget (personnel costs) initially planned at "INSERM (CAD)" is
transferred to the now Affiliated Entity "1.1 CAD". Concerned work packages: WP6,
WP7, WP15
Transfert of budget (total cost: 113,296.40 € ; EC contribution: 56,648.20 €) from NA
"114 UKA_ Universitaetsklinikum Aachen (Germany)" to "99 SFU_ Sigmund Freud
Privatuniversitat Wien GMBH". Upon request of these two beneficiaries, the
responsibilities for the subtasks relating to the budget transfer, i.e., 20.3.4 and 20.4.1
are transferred from "UKA" to "SFU" which has the capacity to take over. Concerned
work packages: WP20
Transfert of budget (total cost: 5,000.00 € ; EC contribution: 2,500.00 €) from "54 NA
F.R.S.-FNRS_FONDS DE LA RECHERCHE SCIENTIFIQUE- FNRS" to "1
INSERM _ Institut national de la santé et de la recherche médicale". Following the
European Commission comments provided during the Grant Agreement Preparation,
the budget related to the preparation and production of Certificate of Financial
Statement (CFS) are transfered to coordinator for operations budget (e.g., Future
unforeseen partners costs like CFS, etc.). Concerned work packages: WP1
Transfert of budget (total cost: 5,000.00 € ; EC contribution: 2,500.00 €) from "61 NA
FCT _FUNDACAO PARA A CIENCIA E A TECNOLOGIA" to "1 INSERM _
Institut national de la santé et de la recherche médicale". Following the European
Commission comments provided during the Grant Agreement Preparation, the budget
related to the preparation and production of Certificate of Financial Statement (CFS)
are transfered to coordinator for operations budget (e.g., Future unforeseen partners
costs like CFS, etc.). Concerned work packages: WP1
Transfert of budget (total cost: 5,000.00 € ; EC contribution: 2,500.00 €) from "62.1 NA
AZV_Czech Health Research Council" to "62 MZd _ MINISTERSTVO
ZDRAVOTNICTVI CESKE REPUBLIKY". Following the European Commission
comments provided during the Grant Agreement Preparation, the budget related to the
preparation and production of Certificate of Financial Statement (CFS) is transferred
to the main beneficiary "MZd" that is requesting more than 430,000.00€ EC
Contribution. Concerned work packages: WP1
Transfert of budget (total cost: 5,000.00 € ; EC contribution: 2,500.00 €) from "109 NA
RT (TuscReg)_REGIONE TOSCANA" to "1 INSERM _ Institut national de la santé
et de la recherche médicale". Following the European Commission comments
provided during the Grant Agreement Preparation, the budget related to the
preparation and production of Certificate of Financial Statement (CFS) are transfered
to coordinator for operations budget (e.g., Future unforeseen partners costs like CFS,
etc.). Concerned work packages: WP1
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Transfert of budget (total cost: 5,000.00 € ; EC contribution: 2,500.00 €) from "138 NA
FNR_FONDS NATIONAL DE LA RECHERCHE" to "1 INSERM _ Institut national
de la santé et de la recherche médicale". Following the European Commission
comments provided during the Grant Agreement Preparation, the budget related to the
preparation and production of Certificate of Financial Statement (CFS) are transfered
to coordinator for operations budget (e.g., Future unforeseen partners costs like CFS,
etc.). Concerned work packages: WP1
Transfert of budget (total cost: 5,000.00 € ; EC contribution: 2,500.00 €) from "139 NA
NKFIH_NEMZETI KUTATASI FEJLESZTESI ES INNOVACIOS HIVATAL" to
"1 INSERM _ Institut national de la santé et de la recherche médicale". Following the
European Commission comments provided during the Grant Agreement Preparation,
the budget related to the preparation and production of Certificate of Financial
Statement (CFS) are transfered to coordinator for operations budget (e.g., Future
unforeseen partners costs like CFS, etc.). Concerned work packages: WP1
Transfert of budget (total cost: 5,000.00 € ; EC contribution: 2,500.00 €) from "144 NA
Vinnova_VERKET FOR INNOVATIONSSYSTEM" to "1 INSERM _ Institut
national de la santé et de la recherche médicale". Following the European Commission
comments provided during the Grant Agreement Preparation, the budget related to the
preparation and production of Certificate of Financial Statement (CFS) are transfered
to coordinator for operations budget (e.g., Future unforeseen partners costs like CFS,
etc.). Concerned work packages: WP1
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Table of Contents
List of Abbreviations ...................................................................................................................................15
1. Excellence #@REL-EVA-RE@# .....................................................................................................22
1.1. Objectives and ambition of the Partnership #@PRJ-OBJ-PO@# .........................................22
1.1.1 Europe’s journey and commitment to Rare Diseases ................................................................................................. 22
1.1.2 Ambition and Mission ................................................................................................................................................. 23
1.1.3 Partnership’s Objectives ............................................................................................................................................. 23
1.1.4 Coherence and synergies to broader policy objectives and priorities set by the Commission, including links with
global strategies and agreements such as the Sustainable Development Goals ................................................................. 26
1.1.5 Collaboration with other partnerships and Union programmes ................................................................................ 26
1.1.6 Transitioning from research to value enhancement: the exit strategy #§PRJ-OBJ-PO§# ......................................... 27
1.2. Methodology #@CON-MET-CM@# #@COM-PLE-CP@# ..................................................27
1.2.1 ERDERA’s building blocks ......................................................................................................................................... 28
1.2.2 Social sciences and humanities ................................................................................................................................... 34
1.2.3 Gender Dimension: ..................................................................................................................................................... 35
1.2.4 Open Science ............................................................................................................................................................... 35
1.2.5 Data Management Plan .............................................................................................................................................. 36
1.2.6 Artificial Intelligence .................................................................................................................................................. 36
2. Impact #@IMP-ACT-IA@# .............................................................................................................38
2.1. Project’s pathways towards impact ...........................................................................................38
2.1.1 The EU is reinforced as an internationally recognised driver of research and innovation in rare diseases (RD) and
thereby substantially contributing to the achievement of the Sustainable Development Goals related to rare diseases.... 38
2.1.2 Research funders align, adopt and implement their RD research policies allowing for the optimal generation and
translation of knowledge into meaningful health products and interventions responding to the needs of people living with
a rare disease across Europe and globally .......................................................................................................................... 39
2.1.3 The RD research community at large benefits from and use an improved comprehensive knowledge framework
integrating the EU, national/regional data and information infrastructures to improve translational research ............... 40
2.1.4 People living with a rare disease benefit from a more timely, equitable access to innovative, sustainable and high-
quality healthcare, taking stock of highly integrated research and healthcare systems ..................................................... 40
2.1.5 Researchers, innovators - as well as people living with a rare disease and their advocates (as co-creators) -
effectively constitute and operate into an integrated research and innovation ecosystem to deliver cost-effective diagnosis
and treatments ...................................................................................................................................................................... 40
2.1.6 Public and private actors, including civil society (e.g. NGOs, charities), establish coordinated and efficient multi-
stakeholder collaborations at EU and national (including regional) levels, allowing for more effective clinical research,
for example aiming at improved success rates of therapeutic development ........................................................................ 41
2.1.7 In addition, ERDERA will contribute to the following overarching impacts of the Work Programme destinations in
Horizon Europe: ................................................................................................................................................................... 41
2.1.8 Monitoring and evaluation framework, version 1, [18/09/2023] ................................................................................ 42
2.2. Measures to maximise impact - Dissemination, exploitation, and communication #@COM-
DIS-VIS-CDV@# ...................................................................................................................................45
2.2.1 Communication and dissemination strategy ............................................................................................................... 46
2.2.2 Sustainability and IPR management & exploitation of results ................................................................................... 48
Summary .................................................................................................................................................49
3. Quality and efficiency of the implementation #@QUA-LIT-QL@# #@WRK-PLA-WP@# .........51
3.1. Work plan and resources ...........................................................................................................51
3.2. Capacity of participants and consortium as a whole #@CON-SOR-CS@# #@PRJ-MGT-
PM@# ......................................................................................................................................................68
3.2.1 Governance ................................................................................................................................................................. 69
4. Ethics self-assessment......................................................................................................................75
4.1. The Ethics Screening Report .....................................................................................................80
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List of Abbreviations
Acronym Full name
1+MG 1+ Million Genome initiative
1M1M 1 mutation 1 medicine (initiative)
AAV Adeno-Associated Virus
ACT EU Accelerating Clinical Trials in the European Union
ADPKD Autosomal Dominant Polycystic Kidney Disease
AI Artificial Intelligence
AIM-IMA Agence InterMutualiste
API Application Programming Interface
ARCA Autosomal Recessive Cerebellar Ataxia
ASO Antisense Oligonucleotides
ASTERIX Advances in Small Trials dEsign for Regulatory Innovation and eXcellence
ATMP Advanced Therapy Medicinal Product
AWP Annual Work Programme
AWP1 Annual Work Plan Year 1
AWP2 Annual Work Plan Year 2
AXD Alexander Disease
B1MG Beyond 1 Million Genomes
BGTC Bespoke Gene Therapy Consortium
BM Business Model
BMC Business Model Canvas
BNDMR French National Rare Disease Registry
BoD Burden Of Diseases
BoF Board of Funders
BSEP Bile Salt Export Pump
BYOD Bring Your Own Data
C&D Communication and Dissemination
CA Consortium Agreement
CDA Confidential Disclosure Agreement
CDISC Clinical Data Interchange Standards Consortium
CDM Common Data Model
cDNA complementary DNA
CHMP Committee for Medicinal Products for Human Use
CITEseq Cellular Indexing of Transcriptomes and Epitopes by Sequencing
ClinRO Clinician-Reported Outcome
CNV Copy Number Variation
COA Clinical Outcome Assessment
COI Cost of Illness
Coo (ERDERA) Coordination (team)
COST European Cooperation in Science and Technology
CRN Clinical Research Network
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Acronym Full name
CS Clinical Studies
CSC Call Steering Committee
CT Clinical Trial
CTEB Clinical Trial Evaluation Board
CTO Chief Technology Officer
CTSC Clinical Trial Scientific Committee
CWL Common Workflow Language
D Deliverable
DALY Disability-Adjusted Life Years
DARWIN Data Analysis and Real World Interrogation Network
DATF Data Analysis Task Force
DDD Dense Deposit Disease
DDT Drug Development Tools
DG CONNECT Directorate-General for Communications Networks, Content and Technology
DG JRC Directorate-General Joint Research Center
DG RTD Directorate-General for Research and Innovation
DG SANTE Directorate-General for Health and Food Safety
DH Data Hub
DITF Data Interpretation Task Force
DMD Duchenne Muscular Dystrophy
DMP Data Management Plan
DNA Deoxyribonucleic Acid
DSB DNA Double-Strand Break
DSH Data Services Hub
DSW Data Stewardship Wizard
EAG Ethics Advisory Group
EATRIS European infrastructure for translational medicine
EBI European Bioinformatics Institute
EC European Commission
ECRIN European Clinical Research Infrastructure Network
ECTS European Credit Transfer and Accumulation System
EFPIA European Federation of Pharmaceutical Industries Associations
EGA European Genome-Phenome Archive
EHDS European Health Data Space
EHR Electronic Health Record
EHR4CR Electronic Health Records for Clinical Research
EJP RD European Joint Programme on Rare Diseases
ELISA enzyme-linked immunosorbent assay
ELSA Ethical, Legal and Social Aspects
ELSI Ethical, Legal, and Social Issues
EMA European Medicines Agency
EO Expected Outcome
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Acronym Full name
EOSC European Open Science Cloud
ePAGs European Patient Advocacy Groups
EPAs Entrustable Professional Activities
ERA4Health Fostering a European Research Area for Health Research
ERC European Research Council
ERDERA European Rare DisEases Research Alliance
ERICA The European Rare Disease Research Coordination and Support Action consortium
ERKNet European Reference Network on kidney diseases
ERKReg The European Rare Kidney Disease Registry
ERN European Reference Network
ERN CRANIO ERN on craniofacial anomalies and ear, nose and throat (ENT) disorders
ERN GENTURIS ERN on genetic tumour risk syndromes
ERN-EpiCARE ERN on epilepsies
ERN-ERNICA ERN for rare Inherited and Congenital Anomalies
ERN-EuroBloodNet ERN on haematological diseases
European Reference Network on congenital malformations and rare intellectual
ERN-ITHACA
disability
ERN-RDN ERN on neurological diseases
ERN-RITA ERN on immunodeficiency, autoinflammatory and autoimmune diseases
ESFRI European Strategy Forum on Research Infrastructures
ESHG European Society of Human Genetics
EU European Union
EUCOPE European Confederation of Pharmaceutical Entrepreneurs
EUHA European University Hospital Alliance
EuReCA EU Resource Efficiency Coordination Action
EURO-NMD European Reference Network for Rare Neuromuscular Diseases
EVs Extracellular Vesicles
ExCom Executive Committee
F2F Face-to-Face
FAIR Findable, Accessible, Interoperable, Reusable
FDA U.S. Food and Drug Administration
FHIR Fast Healthcare Interoperability Resource
FP Framework Programme
GA4GH Global Alliance for Genomic Health
GB Governing Board
GCLP Good clinical laboratory practice
GCP Good Clinical Practice
GDI Genomic Data Infrastructure
GDPR General Data Protection Regulation
GenoMed4All Genomics and Personalized Medicine for all
GMP Good Manufacturing Practice
GMS Genomic Medicine Sweden
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Acronym Full name
GO General Objective
GoF Gain of Function
GPAP Genome Phenome Analysis Platform
HCP Health Care Practitioner
HDR Homology Directed Repair
hE human Embryos
HER Health Electronic Record
hESC human embryonic stem cells
HGVS Human Genome Variation Society
HITI Homology-Independent Targeted Integration
HOOM HPO-ORDO Ontological Module
HPO Human Phenotype Ontology
HSPC Hematopoietic Stem and Progenitor Cells
HTA Health Technology Assessment
i.p. Intraperitoneal injection
ICF International Classification of Functioning, Disability and Health
ICT Innovative Cellular Therapeutics
IDEAL Integrated DEsign and AnaLysis of clinical trials in small population group
IEA Independent Ethics Advisor
IHI Innovative Health Initiative
IMT Innovation Management Toolbox
InSPiRe Innovative methodology for small populations research
IP Intellectual Property
IPR Intellectual Property Rights
iPSC induced Pluripotent Stem Cells
IRDiRC International Rare Diseases Research Consortium
ISA Investigation, Study and Assay
IT Information Technology
ITR Inverted Terminal Repeat sequences
IV Intravenous
JARDIN Joint Action for Integration of ERNs
JCS Joint Call Secretariat
JRC Joint Research Centre
JTC Joint Transnational Call
KPI Key Performance Indicator
LNP Lipid Nanoparticles
The international standard for identifying health measurements, observations, and
LOINC
documents
LRS Long-Read Sequencing
LS AAI Life Science Authentication and Authorization Infrastructure
M Month
MAB Multistakeholder Advisory Board
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Acronym Full name
MAxO Medical Action Ontology
MEI Mobile Element Insertions
metabERN European Reference Network on hereditary metabolic disorders
mHEALTH Mobile health solutions
MHLW Japanese Ministry of Health, Labour and Welfare
ML Machine Learning
MoU Memoranda of Understanding
MRI Magnetic Resonance Imaging
mRNA Messenger Ribonucleic Acid
MS Member States
mtDNA Mitochondrial Deoxyribonucleic Acid
NAB National Alignment Board
NBS Newborn Screening
NGO Non-Governmental Organization
NGS Next Generation Sequencing
NHEJ Non-Homologous End Joined
NIH National Institutes of Health
NLP Natural Language Processing
NMG National Mirror Group
NP National Plan
NSHS National System of Health Data
NSS Networking Support Scheme
NTP National Training Provider
OA EURORDIS Open Academy
ObsRO Observer Reported Outcome
ODD Orphan Drug Designation
OFCO Orphanet Functional Consequences Ontology
OG Operating Group
OGM Optical Genome Mapping
OMIM Online Mendelian Inheritance in Man
OMOP Observational medical outcomes partnership
OMP Orhan Medicinal Product
OO Operational Objective
ORDO Orphanet Rare Disease Ontology
p-medicine Personalised Patient Information for Clinical Decision Support
PAES Post-Authorization Efficacy Studies
PAO Patient Advocacy Organization
PASS Post-Authorization Safety Surveillance
PBMC Peripheral Blood Mononuclear Cells
PCR Polymerase Chain Reaction
PerfO Performance Outcomes
PLWRD People Living With a Rare Disease
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Acronym Full name
PMDA Japanese Pharmaceuticals and Medical Devices Agency
PPIE Patient and Public Involvement and Engagement
PREMs Patient-Reported Experience Measures
PRO Patient Reported Outcome
PROMs Patient Reported Outcome Measures
QC Quality Control
QoL Quality of Life
QSAR Quality Structure Activity Relationship
R&I Research and Innovation
rAAV recombinant Adeno-Associated Virus
RADeep Rare Anaemia Disorders European Epidemiological platform
RD Rare Disease(s)
RDCA-DAP The C-Path Rare Disease Cures Accelerator-Data and Analytics Platform
REAL Re-Analysis Logistics
RESTORE Large Scale Research Initiative in Europe
RNA Ribonucleic Acid
RNA-seq RNA sequencing
RRI Responsible Research and Innovation
RSG Regulatory Support Group
RWD Real World Data
RWE Real World Evidence
SAWP Scientific Advice Working Party
SB Sleeping Beauty
SC Steering Committee
sc-RNA Single Cell RNA
SCD Sickle Cell Disease
SciSec IRDiRC Scientific Secretariat
scRNA-seq Single Cell RNA sequencing
SEC Scientific Evaluation Committee
SMA Spinal Muscular Atrophy
SME Small and Medium Enterprise
SNP Single-Nucleotide Polymorphism
SO Specific Objective
SOA Service-Oriented Architecture
Solve-RD Solving the Unsolved Rare Diseases
SOP Standard Operating Procedure
SPAX Spastic Ataxia Diseases
SPE Secure Processing Environment
SRIA Strategic Research and Innovation Agenda
SSSOM Simple Standard for Sharing Ontological Mappings
ST Sub-Task
STL Sub-Task Leader
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Acronym Full name
STR Short Tandem Repeat
SV Structural Variant
SWOT strengths, weaknesses, opportunities, threats
T Task
T2T Telomer-to-Telomer
TCRseq T Cell Receptor Sequencing
TF Task Force
TL Task Leader
TRANSFoRm Translational Research and Patient Safety in Europe
TRE Trusted Research Environments
UC Underrepresented Countries
UDN Undiagnosed Disease Networks
UDP Undiagnosed Rare Disease Programs
UI User Interface
USA United States of America
UX User Experience
VLPs Virus-Like Particles
VP Virtual Platform
VUS Variant of Unknown Significance
WG Working Group
WHO World Health Organization
WP Work Package
WS Work Stream
YPAG Young Persons Advisory Group
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1. Excellence #@REL-EVA-RE@#
1.1. Objectives and ambition of the Partnership #@PRJ-OBJ-PO@#
1.1.1 Europe’s journey and commitment to Rare Diseases
Today, there are about 7000 rare diseases (RDs) affecting more than 300 million people worldwide including 30
million in Europe1. In the European Union, a disease is considered as rare when it affects not more than 1 person in
2,0002. Many RDs manifest in childhood, affecting a patient’s entire life and are not treatable with current
interventions or medications. Indeed, 95% of RDs are without any therapeutic option3. Furthermore, RDs have low,
or extremely low prevalence, lack natural history studies, and even where the genetic origin may be known, there is
often a severe lack of knowledge of the downstream pathophysiological mechanisms for conventional drug
intervention and heterogeneity of the affected populations. About 50% of rare disease patient do not have a confirmed
molecular diagnosis4,5 and the average time for diagnosing a known rare disease is still more than 4 years.
Furthermore, 52% of patients and carers confirm that their disease has a severe or highly severe impact on daily life6.
For these reasons, RDs, resulting in high medical need and significant costs, remain challenging for both health care
systems and for potential investors, as witnessed by the lack of available therapies and delayed diagnosis. For the
same reasons, rare diseases are recognised as an unparalleled field where European and international collaboration
is indispensable.
Rare diseases were nearly invisible in our health and social care systems in previous decades. Today, they are
recognised as a public health and human rights priority in large part due to a policy framework in Europe7. For years,
many stakeholders in Europe, with the support of the European Union, have contributed to building a cohesive RD
ecosystem. New avenues for the RD community are now open since the launch in the last 2 decades of important RD
initiatives: the resource platform Orphanet, and of the patients’ organisation EURORDIS (‘97), the adoption of a
European legislation on medicines for rare diseases (‘99-2000) and children8 (2006-2007), the adoption of the
Council Recommendation on European Action in the field of Rare Diseases9 (2009), the establishment of the
International Rare Diseases Research Consortium (IRDiRC) (2011), the recent implementation of the European
Reference Networks (ERNs) (2017) set up thanks to the Directive on patients’ rights in cross-border healthcare
(2011), the launch of the European Platform for Rare Disease Registration (2018), the creation of the European Joint
Programme on Rare Diseases (EJP RD) (2019), the evaluation on the legislation for medicines for rare diseases and
for children (2020) and initiatives to evaluate and improve the European Orphan Medicinal Product landscape (2021),
and, last but not least, launch of the RD Moonshot (2022) first public-private coalition fostering the acceleration of
drug development pathway. At national level many European countries adopted national plans (NP) and/or national
strategies (NS) to tackle rare diseases10, including some policies for research. At EU level, these endeavours were
supported by EU funding such as the EU Health Programmes and the Research FPs, as the so-called ERA-Net scheme
(networking of national research funding agencies): E-Rare-1, E-Rare-2 and E-Rare-3, predecessors of EJP RD.
From the scientific standpoint, the recent acceleration of new technologies and development of advanced therapeutic
medicinal products (ATMPs) has opened new opportunities for many genetic diseases offering first-time treatments
tackling the root causes of the disease and potentially even a cure11 as opposed to traditional treatments which are
focused largely on treating symptoms only. Recently, platform approaches and strategies have become a more
efficient and common to address new treatment or diagnostics development including clinical trials. To that end, in
2021, the National Institute of Health (NIH) in the US, together with the U.S. Food and Drug Administration (FDA),
as well as multiple pharmaceutical companies and non-profit organizations, launched the Bespoke Gene Therapy
Consortium (BGTC) aiming at establishment of platforms and standards to speed up the development and delivery
of customized or “bespoke” gene therapies that could treat millions of people affected by rare diseases, including
diseases too rare to be commercially viable. At the same time in Europe, initiatives like RESTORE12 or RARE-
IMPACT13 contributed to gaining a better understanding of the European setting for ATMP development and
delivery. Furthermore, the use of big data, implementation of FAIR principles, innovation beyond omics and artificial
1
Nguengang Wakap et al., «Estimating Cumulative Point Prevalence of Rare Diseases».
2
Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products; https://eur-
lex.europa.eu/legal-content/EN/TXT/PDF/?uri=CELEX:32000R0141&from=EN
3
Kaufmann, Pariser, y Austin, «From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational
Sciences – Office of Rare Diseases Research».
4
Wise AL, Manolio TA, Mensah GA, et al. Genomic medicine for undiagnosed diseases. Lancet. 2019;394(10197):533-540. doi:10.1016/S0140-
6736(19)31274-7
5
Smith HS, Swint JM, Lalani SR, et al. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review
of the Literature. Genet Med. 2019 Jan; 21(1):3-16.
6
Rare Barometer survey (May 2017): http://download2.eurordis.org.s3.amazonaws.com/rbv/2017_05_09_Social%20survey%20leaflet%20final.pdf
7
Quote from Executive summary of Rare2030 Foresight in Rare Disease policy- Recommendations (Feb 2021)
8
Regulation (EC) No 1901/2006 of the European Parliament and of the Council of 12 December 2006 on medicinal products for paediatric use; https://eur-
lex.europa.eu/legal-content/EN/TXT/?uri=celex%3A32006R1901
9
https://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF
10
http://www.europlanproject.eu/NationalPlans?idMap=1
11
«Realizing the promise of gene therapy through collaboration and partnering: Pfizer’s view».( https://www.nature.com/articles/d42473-018-00307-6)
12
«RESTORE - Large Scale Research Initiative in Europe». (https://www.restore-horizon.eu/)
13
Rare Impact, «Rare Impact». (https://rareimpact.eu/)
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intelligence (AI), introduce additional opportunities14. Out of necessity rare diseases have become pioneers in
tomorrow’s transformations and creative solutions for research and healthcare. For example, the specificity of RDs
(limited number of patients, their willingness to share their data [95%]15 and the scarcity of knowledge and expertise)
as well as the structuration of RD ecosystem are the best rationale for data-driven solutions (e.g. EU Health Data
Space and European Open Science Cloud) that will improve life of all EU citizens. Moreover, the rare diseases
community continuously monitor progress towards the vision and mission of its programmes and instruments, and
update them through a range of strategic studies including, but not limited to, the Rare 2030 Foresight in Rare Disease
Policy (2021)16, the IRDiRC State of play report (2019-2021)15, and the scoping papers and state of play analyses
that maps the research and innovation needs17, analyse the alignment of the national plans and strategies for rare
diseases18 with EJP RD.
1.1.2 Ambition and Mission
The AMBITION of ERDERA is to improve the health and well-being of the 30 million people living
with a rare disease in Europe, by making Europe a world leader in RD research and innovation, to
support concrete health benefits to rare disease patients, through better prevention, diagnosis and
treatment. The Partnership will deliver a RD ecosystem that builds on the successes of previous
programmes by supporting robust patient need-led research, developing new diagnostic methods and
pathways, spearheading the digital transformational change connecting the dots between care, patient data
and research, while ensuring strong alignment of strategies in RD research across countries and regions.
Structuring goal-oriented public-private collaborations targeted at interventions all along the R&D value
chain will ensure that the journey from knowledge to patient impact is expedited, thereby optimising EU
innovation potential in RD. This will be enabled by a tripartite MISSION to be accomplished by 2034:
(1) Bring to bear the high value, sustainable, supporting services from across Europe under one roof so that
every high-quality RD research project will benefit from cross-disciplinary expertise, goal-oriented study
planning and efficient execution; (2) Boost clinical study readiness of RDs by enabling every consenting
patient living with a rare disease to be findable and enrolled in a suitable clinical study that is necessary for
having regulatory and FAIR-principles compliant data sets, generating advances in diagnosis,
understanding of diseases and developing treatments, (3) Make Europe a global leader in rare disease
research through a significant increase in investment to spur innovation, by aligning the regional, national
and European research and innovation priorities, leading to job creation and improving EU competitiveness
in R&I.
1.1.3 Partnership’s Objectives
14
IRDiRC State of play report (2019-2021) (https://www.calameo.com/belevottomuus/read/0070392840140e96259d3)
15
Rare Barometer survey (Jan 2020): http://download2.eurordis.org.s3.amazonaws.com/rbv/20-01-24%20RB%20Data%20Survey%20Fact%20Sheet_Final.pdf
16
Rare 2030 Foresight in Rare Disease Policy (https://www.rare2030.eu/)
17
D2.08 (link), D2.09 (link), D2.10 (link), D2.11 (link): First to Fourth EJP RD Scoping Paper
18
D2.21 (link), D2.22 (link), D2.23 (link) and D2.24 (link): First to Fourth EJP RD Analysis of national state of play and alignment process with EJP RD
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The objectives of ERDERA are represented at three levels and organized according to the Partnership
Specific Impact Pathways (PSIPs) (fig. 1). The General Objectives (GOs) correspond to the long-term
impacts to which ERDERA aims to contribute. The Specific Objectives (SOs) reflect medium-term
timescale and correspond directly to the expected outcomes that the Partnership should achieve or
contribute to, in line with its mission, and within its lifetime or, at the latest, at 2034 horizon. Finally, the
Operational Objectives (OOs) are considered as means and resources and are translated through the
activities that will be implemented by the Partnership to accomplish the overarching SO and GO levels.
The General Objectives (GOs) are defined in line with the Partnership's vision and mission. It was agreed
that they should be inspired by and fully aligned with the goals of IRDiRC.
Figure 1. Partnership Specific Pathways of ERDERA. The interlinks at each level exist: one SO may respond to more than
one expected GO. The PSIP represents the most important (strongest) pathways that were agreed during the ERDERA SRIA
development after the consultation of SRIA Task Force (more than 80 independent experts) and aggregating more than 500
pathways designed by its individual members.
GO1: Diagnosis established or enrolment in systematic research in average within 6 months after
coming to medical attention (in EU and Associated countries)
Patients with undiagnosed diseases and their families often face an uncertain and unpredictable journey,
called a diagnostic odyssey. ERDERA will contribute to shortening the diagnostic pathway for patients
with rare diseases by decreasing time to diagnosis after the first medical appointment with a specialist
for those disorders already identified in the literature. For the undiagnosed disorders efforts will be made
to build and/or strengthen the bridge between research and healthcare to provide to every undiagnosed
patient the possibility to be included in a globally coordinated diagnostic and research pipeline.
GO2: New effective therapies for rare diseases approved in the EU and beyond:
95% of RDs are still underserved in terms of research and patients with rare diseases, although diagnosed,
face a lack of viable long-term treatment options. To contribute to IRDiRC Goal 2 – “1000 new therapies
for rare diseases will be approved”, ERDERA will accelerate the development of new therapies
(especially for diseases without approved options) by providing the necessary expertise and technological
support to research projects aimed at developing new effective treatments (encompassing drugs and
innovative devices) and by expediting clinical trial readiness of rare diseases, including contribution to
regulatory fitness to enable regulatory approval.
GO3: Better understanding of the impact of RDs on patients, families and society
Understanding of the impact of RDs on people lives means also better evaluation of the societal and
healthcare costs and capacity to implement more inclusive, holistic healthcare approaches. Through
required means (funding, data collection, education, awareness raising) and processes (involvement of
PLWRD, public engagement) the Partnership will contribute to capturing of RD impact and
comprehensive understanding of patients and carers needs leading to more impactful research and, in the
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long term, improved and/or new processes that will facilitate the diagnosis and care pathways and
translate into meaningful societal support.
SO1: Generation of knowledge and its translation into medical intervention
The Partnership will enable patient-need led relevant science by providing a RD research support pipeline
from basic research to clinical trial readiness. Attention will be paid to Social Sciences and Humanities
research to better understand the impact of rare diseases and the potential benefit of new interventions.
The integration across value chain will be addressed by combining research financed and performed by
both public and private stakeholders and involving patients.
SO2: Healthcare and research data are accessible and used for scientific and regulatory evaluation &
healthcare delivery
ERDERA will support the generation, pooling, integration and sharing of high-quality and interoperable
RD data in an expanding ecosystem of distributed FAIR data sources, building on existing infrastructures
encompassing ERDRI, the EJP RD Virtual Platform, RD-Connect, and services not specific for RD (e.g.,
BBMRI-ERIC). It will promote advanced data analysis and data interpretation methods and approaches
(both federated and centralised) that exploit this ecosystem. It will support the development of data-
driven computational tools, statistical and AI methods, as well as digital solutions to understand the
diseases progression, to solve undiagnosed RD cases and implement new clinical studies/trials designs
for small populations.
SO3: All activities empower, as equal partners, people living with rare diseases
The Partnership will provide an inclusive pathway and adequate resources to empower PLWRD and/or
representatives as equal partners. PLWRD will be involved at all levels of governance and execution of
ERDERA, with training or induction as necessary. A structured and flexible framework for patient
engagement in research (including funding) will be developed and will promote best practices, re-using
and extending existing resources. To reduce inequities between different types of RD, underserved RDs
will be targeted through, among others, building new or expanded networks and supporting dedicated
research.
SO4: Increased capacity and skills of RD stakeholders to optimize research to healthcare continuum
ERDERA will incorporate capacity building activities as integral part of the rare disease research pipeline
to enable upgrading of scientific, technology but also regulatory knowledge of stakeholders participating
in research projects financed through competitive calls but also those performing “in house” research
activities as part of the Clinical Research Network. Moreover, new generations of RD researchers will
be equipped with state-of-the-art competences. To unlock the access to RD top-level education to all, the
Partnership will develop an accredited, comprehensive online education programme taking stock of
highly performing pre-existing modules complemented by novel training units.
SO5: Integrated multinational & multi-stakeholder R&I ecosystem for rare diseases
The Partnership will break the silos between communities by consolidating the already existing strong
community and stepping-up the integration of underrepresented perspectives, namely the industry,
regulatory bodies and payers. Through dedicated onboarding mechanisms, ERDERA will gradually bring
in additional players to attract and increase the critical mass of resources, know how, talents and
excellence, but also to erase white spots on the RD research map and offer equal opportunities to patients
across Europe and beyond. It will catalyse the transfer of good practices to the national and regional level
by building or consolidating the RD National Mirror Groups. This will be reflected by relevant
governance and advisory structures but also overall Partnership organisation to ensure coherence and
maximise impact of all actions.
The Operational Objectives supporting SOs and GOs and to be reached via activities described in
Section 3 are: OO1: Investment in patient need-led research and innovation, OO2: Support robust
data, resources and expertise infrastructure, OO3: Coordination and alignment of European,
(inter)national and regional research strategies and resources, OO4: Training and education (of RD
stakeholders) and OO5: Multi-stakeholder collaboration.
The linked Key Performance Indicators, and thus their measurability and achievability, of all
ERDERA’s objectives are specified in the dedicated table of section 2.1. Furthermore, ERDERA (see
also Methodology & WP1 Annual Work Plan) will implement performant monitoring system, allowing on
traceability, with dedicated means of verification for each type of activity and partnership as whole. This
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will enable collection of data necessary to measure the progress towards, and achievement of Partnership’s
objectives.
1.1.4 Coherence and synergies to broader policy objectives and priorities set by the Commission,
including links with global strategies and agreements such as the Sustainable Development Goals
The objectives of ERDERA have been consciously designed to align with broader policy objectives of
relevance to the RD field (as well as complementary domains) as well as to multiple strategic priorities of
the European Commission. All GOs complement several of the priority intervention areas for Horizon
Europe: not only ‘non-communicable and rare diseases’, but also ‘health throughout the life course,’ ‘tools,
technologies and digital solutions for health and care including personalised medicine’ and ‘health care
systems’. Although the Partnership is first and foremost centred on research, it is acknowledged that a very
close collaboration between healthcare and research is necessary. The GOs and SOs are aligned with the
priorities of the Health Cluster of Horizon Europe: (i) Staying healthy in rapidly changing society (GO1&3,
SO1&4); (ii) Tackling diseases and reducing disease burden (GO3, SO3), (iii) Ensuring access to
innovative, sustainable and high-quality health care (GO1, SO1), (iv) Unlocking the full potential of new
tools, technologies and digital solutions for a health society (SO2) and (v) Maintaining an innovative,
sustainable and globally competitive health-related industry (GO2, SO5). The SO2 is aligned with the EU
political priority ‘a Europe fit for the digital age’, the European Digital Strategy (strengthening digital
sovereignty and setting standards across this ‘Digital Decade’) as well as the European Data Strategy, with
data-driven innovations bringing better and more personalised medicines and evidence-based policy. GO2
and SO5 will support implementation of the Industrial Strategy and promote the ‘economy that works for
people. And the stronger Europe in the world’. Furthermore, the Partnership’s emphasis on integrating and
building capacity in all EU MS and associated countries (SO4, SO5) aligns well with the Horizon Europe
component on ‘Widening participation and strengthening the European Research Area’.
RDs are very much a global challenge, thus it is important that this Partnership contributes meaningfully to
the UN SDG agenda. Three key SDGs are particularly relevant here: 1. SDG 3 – Good Health and Well-
Being -the Partnership will ensure a ‘joined-up’ approach, both to stakeholders and also to policies and
strategies, in order to contribute to better health and wellbeing, specifically the following components:
understanding the burden of RD on patients, families and societies at large; bringing more (and more
accurate) diagnoses to patients, faster; enabling the most promising research to result in effective
therapeutic or care products patients can access. In this way, the RD Partnership is contributing actively to
the goal of giving all patients access to Universal Health Coverage. 2. SDG 9 – Industries, Innovation
and Infrastructure: Advancing research in RD requires collaboration across stakeholder groups as well
as geographies, and industry engagement is an essential component. The Partnership will work with
industry and industry associations to maximise collaboration in the pre-competitive space, to support more
needs-led innovation (through direct support to ATMPs technology advancement, better understanding of
the needs of RD populations, through partnership with patients at all stages of research, and by accelerating
the translation of innovation into patient benefit). The Partnership will, through engagement with the digital
and technology sectors, ensure a strong focus on evolving, refining and implementing resilient data
infrastructures to support research and better health, in order to develop and promote the use of high quality,
ethical, and regulatory-compliant tools across all sectors of the research ecosystem. 3. SDG 10 – Reduce
Inequalities: Patients living with RD experience multiple inequalities compared to individuals with more
common disorders. ERDERA will make a meaningful contribution to addressing this goal, particularly by
reducing the uncertainty and anxiety of often-avoidable diagnostic odysseys and increasing the prospects
of more (and more effective) therapies in future. It will pool expertise and maximise data usage to find
diagnoses for underserved diseases to better know the natural history of RD and more, it will increase the
expertise locally & globally to improve clinical care, will open access across Member States to research on
interventions and will engage with patients' own priorities to help them maximise their personal potential.
By ensuring a focus on connecting the national, European and global levels, and fostering renewed
momentum on plans and strategies for RD, it will support greater research-relevant benchmarking, which
will illuminate inequalities for often marginalised and vulnerable RD populations whilst also supporting a
greater national awareness of the extent of inequalities and needs in the health and social domains, thus
enabling actions.
1.1.5 Collaboration with other partnerships and Union programmes
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Even though it involves more than 170 partners, many of which are network-based organisations, ERDERA is part
of a larger ecosystem. Thus, to fulfil its missions and ensure constant complementarity, knowledge and resources
sharing and optimization, the Partnership will leverage relevant European actions and will conversely generate
content that may benefit other EU initiatives. Three main collaborations’ targets are envisioned at this stage: (i)
Collaboration with European Union Partnerships, (ii) Collaboration with European Union Programmes, Projects and
Initiatives, (iii) Collaboration with other large European or international initiatives. Synergies with different types of
activities in the Partnership and funding support will be further identified with the aim to support and enhance specific
activities, as well as dissemination and exploitation of results. For each collaboration “opportunity topics” refer to
the Rare2030 recommendations covering diagnosis, treatment, care, research, data and European and national
infrastructures that set out the roadmap for the next decade of rare disease policies and are also applied in the
Partnership’s SRIA. The complete list of identified initiatives is available in the Annex 1 of the SRIA “European
Partnerships, EU Missions, EU Programmes, Projects and Organisations of potential relevance”.
EU Partnerships: Key collaboration opportunities have been identified with several EU partnerships in three main
areas: (i) the Health Cluster (ii) the Digital, Industry and Space Cluster, (iii) partnerships with cross-sectoral themes.
Strong collaboration will be initiated with four EU Health partnerships: IHI, ERA4Health, Personalised Medicine
and Health and Care Systems Transformation. Collaboration is also foreseen with cross-sectoral partnerships such
as the EIT Health, Innovative SME and EOSC. Finally, to ensure best uptake and alignment in data, computing and
machine-learning research areas, two Partnerships lying under the Digital, Industry and Space Cluster have been
identified as potential candidate for partnerships, the EuroHPC and the AI, data and robotics partnership.
EU Programmes and Initiatives: The Partnership will also take advantage of pre-existing and to-be funded EU
Programmes and EU projects to maximise the use of resources and alignment. It will build synergies with Horizon
Europe initiatives (such as European Innovation Council - EIC, or Cancer Mission) or programmes (EU4Health
Programme and the Digital Europe Programme - DEP). The ESF+ (European Social Fund Plus, invest in education,
employment and social inclusion), InvestEU and ERDF (European Regional Development Fund) will be
systematically considered to develop, upgrade and uptake the outputs of ERDERA activities.
Other European and international programmes and Initiatives: In addition to the above, collaboration and/or
interaction will be developed (whenever pertinent) with overarching European or international major initiatives of
which a first tentative list is included in the Annex 1 of the SRIA.
1.1.6 Transitioning from research to value enhancement: the exit strategy #§PRJ-OBJ-PO§#
The ERDERA is a large research Partnership that will reach its ambition through on the one hand
developing novel research, tools, and services useful to the rare disease community. And one the other hand
through delivering that research, tools and services to public and private organisations including funding
organisations and companies in a way that fits their business model and value proposition allowing them
to seamlessly incorporate the research, tools and services into their day-to-day operations. However, lessons
learned from ERDERA’s predecessor EJP RD indicate that research institutions and grant funding with
limited timeframe are great for developing novel solutions but not necessarily for delivering them to end-
users through a fit with end-users’ business models and their practical reality. Furthermore, ERDERA’s
output must not only be relevant for public and private stakeholders (including funders and companies) as
end-users, but also make attractive to the public and private funders and research organisations to share
their data with ERDERA as part of developing an attractive data infrastructure that can be explored by end-
users in the delivery phase. This calls for an exit strategy where the grant provided for the development
phase will in fact be equivalent to an investment as the return is reaped in the delivery phase. Hence, from
its inception, ERDERA will work on an exit strategy aimed at achieving long-term sustainability linking
development with delivery. It will begin with defining the vision of the sustainable ERDERA, then
proceeding to operationalise it by identifying its core value components such as infrastructure for data and
expertise, clinical research services and research funding support and finally creating the necessary
incentives for knowledge sharing, fostering a commercial mindset and deciding on legal entity and
governance structure. Building upon insights gained from the EJP RD Sustainability Report, the Partnership
will work towards the establishment of the European (Federated) Rare Disease Institute (RDI), equipped
with the operational capacity to deliver value that can garner long-term commitments and financial support
from public and private organisations including funding organisations and companies. During the first 4
years of the Partnership, the focus will be on developing the business case of the European Rare Disease
Institute. During the remaining 3+3 years ERDERA will work together with key stakeholders, including
Member States and the European Commission, to develop a political support for the delivery and exit
strategy to finally conclude the creation of the legal entity for the institute.
#§PRJ-OBJ-PO§#
1.2. Methodology #@CON-MET-CM@# #@COM-PLE-CP@#
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To support its ambition and missions, the European Rare Diseases Research Alliance (ERDERA) has been
designed as a comprehensive and integrated ecosystem accelerating research and innovation in the field of
Rare Diseases (RD). In simple words, its structure can be compared to an institute encompassing three main
parts: (i) funding, (ii) internal (in house) Clinical Research Network that implements research activities
targeting clinical trial readiness of RDs and accelerating diagnosis and translation of research discovery
into improved patient care, and (iii) related supporting services that serve external and internal RD
community. The three blocks are composed of several interconnected Work Streams (departments), each
focusing on a specific aspect of RD research and innovation, and supported by all-embracing coordination
and strategy and foundational (inter)national alignment. It is important to underline that despite not
being a “material” structure, the federated nature of ERDERA takes advantage of well-established elements
(e.g. multinational RD funding, ERNs, supporting services pressure tested by EJP RD, Virtual Platform of
data, strong patient organisations) that are combined with new, missing or underdeveloped building blocks
(e.g. ATMPs technology & innovation, federated diagnostic pipeline, European-scale RD education
programme, public-private undertaking), and jointly form a unique infrastructure, tailored to the needs of
RD community and supported by solid governance and strategy. By bringing all components and
stakeholders on board ERDERA can tackle system-wide scientific and operational challenges that no one
institution can overcome individually.
The overarching Coordination is vital for ERDERA’s daily operations and sustainability as it will involve
activities essential for maintaining cohesion, alignment, and synergies across the ecosystem. It entails a
comprehensive system of actions and processes encompassing governance & strategic prioritisation, patient
involvement, continuous monitoring, intellectual property rights, data-driven decision-making, ethical
compliance, and communication & dissemination.
The Governance & Strategy of ERDERA involves several core bodies (Governing Board [GB], Board of
Funder [BoF] and Multistakeholder Advisory Board [MAB]) that are closely connected and informed by
executive level. The Coordination team, led by INSERM, provides the necessary tools, documents, and
agendas, and works closely with the Monitoring Task leaders to provide regular updates on the partnership's
performance or policy analyses. The GB and MAB will meet regularly to discuss strategic and policy
matters and approve the Annual Work Plans of ERDERA. The MAB, composed of 20-25 independent key
opinion leaders, can initiate Thematic Groups, and thus enlarge, whenever needed, its expertise to address
topics of interest brought by ERDERA partners or GB. The final decisions on funding opportunities are
driven by the BoF. To ensure that ERDERA’s activities are led by patients' needs and aim to improve
patient outcomes, Patients & Public Involvement and Engagement (PPIE) is embedded at all levels
through the coordination of EURORDIS and the support of various patient organizations constituting the
core PPIE group. Based on a PPIE framework, the group will support all involved patients and
representatives, advise and provide feedback to ERDERA’s executives, help in identifying patients for
research tasks, monitor engagement, link activities to Education & Training, and develop resources for
patients and families. To monitor timely delivery of foreseen outputs, risk strategy, required investment
and reallocation of resources, advancement on the pathway to impact, an exhaustive monitoring system
has been designed to serve the coordination and enable data-driven decision-making. The challenges of IPR
management, ethical compliance, and long-term sustainability will be dealt with by entering into a
Consortium Agreement, setting up an Ethics Advisory Group, defining a structured vision of the ERDERA
legal entity, mapping relevant business models and legal settings, and considering costs and financing
aspects. To build and maintain the support of RD community and other non-RD stakeholders, and to ensure
the exploitation of the generated results and services the ERDERA’s strategy for communication and
dissemination will be designed, observing Open Science principles, and tailoring to specific audience
groups' needs. Synergies with Work Streams will be leveraged to develop ERDERA branding and
communication materials, supporting the partnership in their communication needs. Together, these
activities will contribute to creating an all-inclusive, supportive, well-organized, and efficient environment
necessary for ERDERA's day-to-day operations and long-term sustainability.
1.2.1 ERDERA’s building blocks
The Rare Diseases Funding workstream (WP3-5) is a paramount part of the ERDERA and engages
various and complementary stakeholders such as funding agencies, private sector organizations and
philanthropic foundations. It creates and implements tailored, competitive funding programmes (joint
transnational [WP3] and clinical trials calls [WP4]) leveraging national and EC commitments (over 167
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M€ committed by participating countries; around 30M€ of EC budget solely dedicated to support Clinical
Trials). All funding opportunities aim to foster patient-centric, transnational, multi-stakeholder research
projects. To respond at the best to the needs of RD community, and encompass any new emerging needs,
the selection of topics of the calls is based on gap analysis combined with strategic and policy
recommendations from the ERDERA’s advisory and governing bodies and, whenever relevant, public
consultation. To ensure patients are equal partners in research, specific budgets are dedicated to funding
patient advocacy organizations (PAOs) involved in research projects. By integrating the support in
translational mentoring, regulatory aspects, and FAIR data management during the application process,
along with targeted training opportunities, ERDERA ensures efficient execution and increased innovation
of all funded projects. Finally, to enhance knowledge sharing of pre-existing collaborations and to spark
building of new research networks for underserved rare diseases or undiagnosed patients, the Partnership
will continue the Networking Support Scheme (NSS, WP5) established under EJP RD as proven
instrument to empower people living with rare diseases, involve stakeholders from widening countries,
engage young researchers, and strengthening collaborations with national and international stakeholders.
The Clinical Research Network workstream (WP6-12) is the second arm of the Partnership that, through
the in-house research activities, aims at developing and demonstrating scientific and operational
innovations that accelerate diagnosis, improve clinical trial readiness, aid in evaluation of RDs burden and
support development of innovative therapies. Empowered by the expertise and capacity of the European
Reference Networks and other relevant clinical centres, similarly to the Funding work stream, the CRN is
closely interconnected to all supporting services (see below). To deliver on ERDERAs objectives, the R&I
activity of the CRN is organised around three main domains: diagnostics, clinical outcome, and advanced
therapies research.
Decreasing time to diagnosis from 4 years to 6 months after coming to medical attention for every RD
patient is a high-level goal that requires significant scientific and structural efforts. This involves, among
others, innovative diagnostic research strategies, enabling access to the newest technologies, and
transferring generated research standards to diagnostic centres to close the gap between research and
healthcare. The CRN’s Diagnostics Pole will tackle this by building (diagnostic) research data
availability on a European scale (WP6), while coordinating genomics diagnostic research pipeline
(WP7). To up-scale and consolidate a secure environment to share data on undiagnosed RD patients for
ERNs, Undiagnosed Disease Networks (UDNs) and diagnostic centres, WP6 will use the proven
collaborative Solve-RD infrastructure model and implement a federated approach leveraging on national
1+MG/GDI infrastructural elements. It will involve national undiagnosed rare disease programs (UDP),
national diagnostic centres (including in underrepresented countries), and the ERDERA’s Data Services
Hub. A Data Availability Committee will be established to ensure the quality and integrity of the diagnostic
data, compliance with ethical considerations and responsible data usage, through monitoring of the data
sharing. The centrally or locally collected data of undiagnosed cases will be re-analysed thanks to the unique
combination of clinical expertise of ERN members and state-of-the-art knowledge of data scientists jointly
organised in working groups. Whenever relevant, innovative genomics methods and interpretation
approaches (WP8) like long-read sequencing (LRS) platforms, optical genome mapping, and multi-omics
analyses to detect missed or hidden variants and gene regulatory aberrations will be used. Any generated
new methodologies, guidelines and research results will be disseminated via publications and international
databases to enhance global uptake. Efforts will be made to monitor and continuously improve the time
spent at every step of the diagnostic chain, and all pipelines and software developed will be released. It is
expected that the combined efforts of WP6-8 will provide a complete and generalizable workflow for all
RD patients thus significantly accelerating RD diagnoses.
To design clinical trials and evaluate potentially transformative treatments, researchers, biopharmaceutical
companies, and regulators need high quality, natural history data, as well as biological and clinical outcome
measures fit for the intended purpose. The absence of such information represents a major bottleneck in
therapy development for many rare diseases. Thus, Clinical trial readiness can be understood as the state
of having validated clinical research tools and knowledge of disease natural history necessary for the
design of efficient clinical trials. To accelerate clinical trial readiness of RDs the WP9 and WP10 constitute
the so-called Clinical Outcome Research Pole of the CRN. More specifically, WP9 aims to process real-
world RD cohort data for clinical trial readiness. It will develop generalizable solutions through specific
case studies selected based on thematic complementarity, feasibility, data readiness and relevance for
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therapeutics development. Both structured and unstructured Electronic Health Records (EHR) data will be
processed with the help of Natural Language Processing experts and Data Service Hub specialists.
Innovative strategies for population-based outcome research will be formulated, with an emphasis on
crafting guidelines to produce FAIR-compliant population datasets. The aim is to create a universally
applicable, interoperable dataset anchored on linked European Reference Network (ERN) registry
and social security data. The advantages of merging existing RD patient cohort data will be highlighted
with the objective to craft robust reference groups, poised to serve as benchmarks for upcoming clinical
trials. Procedures for academia-driven patient registries and natural history studies will be established
during the sequential stages of engagement with regulatory authorities with the goal of securing EMA
qualification for regulatory-grade natural history registry data for potential utilization as external
comparator arms in non-randomized clinical trials in rare diseases. Additionally, these procedures are
designed to assist in post-authorisation safety surveillance (PASS) and efficacy (PAES) studies.
Existing model-building technology will be utilized, and new methodology will be developed to create
Drug Development Tools (DDTs) to enhance the comprehension of RD progression patterns and
facilitate quicker and cost-effective predictions regarding the effectiveness and safety of new
therapeutic products. The C-PATH Rare Disease Cures Accelerator-Data and Analytics Platform
(RDCA-DAP®) will be leveraged as a central, standardized infrastructure to support and accelerate rare
disease characterization. Additional expertise in operational and regulatory aspects will be sourced from
WP 14 and 18.
WP10 brings multidisciplinary expertise to address the key challenges of patient-centred outcome research
in RDs. It focuses on the promotion of implementation of Patient-Cantered Outcome Measures
(PCOMs)/Patient-Reported Outcome Measures (PROMs) in RD contexts, which is hampered by the
insufficient number of validated tools developed for RDs. The ERICA consortium has generated a
PCOMs/PROMs repository of validated tools in RDs, which will be linked to functions and disabilities in
the WHO International Classification of Functioning, Disability and Health framework for measuring
health and disability at both individual and population levels. This will facilitate the process of PROM
scale generation and improve patient care pathways, health status monitoring, clinical therapy
guidance, and health outcomes. Data standardization and efficient, regulatory-grade data capture are
required to leverage the full power of these PCOMs/PROMs datasets. They will be integrated with other
Clinical Outcome Assessment tools and biomarkers via interaction with WP9, paving the way for
personalized medicine in RDs. The overall process from regulatory and ethical PCOMs/PROMs clearance
management to data integration and analysis through Machine-Learning approaches will be designed and
validated through four use cases involving the collection of patient-generated data using mobile health
solutions and devices thus demonstrating the capacity of ERDERA to improved comprehensive knowledge
framework integrating the EU, national/regional data and information infrastructures to improve
translational research, clinical trial readiness, and impact of RDs.
The WP11 and WP12, the Advanced Therapies Pole of the CRN, are critical to accelerate the
development of new therapies, especially for RDs remaining without any therapeutic options. WP11 will
expedite the clinical translation of Advanced Therapeutic Medicinal Products (ATMPs) developed in WP21
(Technology Accelerator, see below) by creating a comprehensive collection of procedures and methods
that will help in identifying rare diseases, matching them with suitable technologies, and simplifying the
procedures to access clinical trials. Clinical, technological and patient experts will agree on diseases to be
prioritized and match them with the most advanced and suitable technologies in the Tech Accelerator Hub.
The subsequent work will focus on performance testing of these technology platforms in proof-of-concept
studies to demonstrate their application in translating research for ATMPs development and their final
procurement as service to ATMPs developers.
Further to the above, and to support solutions for patients with ultra-rare diseases that remain outside of
scope for more traditional drug development business models, ERDERA will address the development of
individualized antisense oligonucleotides (ASOs) within an academic and named patient setting,
without the intention of marketing authorization (WP12). This approach offers more flexibility and
represents a significant paradigm shift. To that end, a new platform, based on hub and spoke model will be
created to ensure the safety, standardization, and timely development of individualized treatments. The
platform will be supported by a board consisting of a multidisciplinary group of experts, including patient
groups, clinicians, researchers, and ethicists, to discuss patient eligibility, select appropriate outcome
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measures, and ensure equity in the selection of the most eligible patients. The platform hub will be
responsible for patient identification process, ASO design and synthesis, safety assessment in cells and
animals and ethics. On the other hand, the sites treating patients with individualized therapies (spoke) will
oversee measurement of relevant outcomes, design of the study/treatment regimen, local regulatory aspects,
and challenges for local treatment implementation. The platform will be tested using four use cases and
subsequently rolled out to other partners. The work performed under Diagnostics Pole of the CRN (WP7-
8) will identify additional patients with mutations eligible for individualized ASO treatment. Patients will
be treated in a named patient setting, but to facilitate drawing of transferable outputs, the coordination with
methodological experts of WP 19 will allow assessing efficacy of the platform approach across diseases
and treatments. In addition, the treatment response will be captured in a specific registry, built with the
support of Data Service Hub, enabling individualization for each patient, and ensuring interoperability with
other patients' registries at the same time. WP11 will draw on already existing first emergent cross-
European networking efforts initiated by the two task leaders, (LUMC, UT), both coordinators of “1
mutation 1 medicine (1M1M)”, including first contacts to underrepresented countries (via ERN-RND and
linking to WP24). Tight interaction between WP11 & 12 and with other work packages, especially the PPP
collaboration Accelerator (WP22) will be crucial to identify a common and efficient strategy for initiating
clinical studies for innovative therapies in rare diseases. In this regard, a clinical trial application of the
validated ATMP(s) will be prepared at M84.
Support services: Data, Expertise, Education & Training and Acceleration Hubs
To ensure efficient execution and maximise transability of results and innovation of research activities
(encompassing CRN and all funded projects) a comprehensive suite of support services is at the heart of
ERDERA.
The Data Services Hub (DSH) is developed to facilitate data capture, integration, analysis and sharing
across the RD community. It comprises a proper Data Hub (composed of an integrated network of FAIR
data sources, analysis methods, knowledge bases, and computing components created collaboratively by
all partners in ERDERA) and associated services supporting FAIR data processing by ERDERA research
activities (funded and in-house) and, with the data-driven monitoring system, informed decision-making.
Together Data Hub and Services will enhance the value of rare disease data and knowledge on a global
scale, thereby increasing research capabilities and efficiency for a wide range of stakeholders, including
patient organizations, industrial partners, policy makers, and researchers. The DSH will also interact with
other data infrastructures and initiatives (such as Euro HPC, 1+MG/GDI, GA4GH) to stimulate DSH
developments and provide reusable solutions. The EJP RD has already developed a federated infrastructure
for RDs research data, known as the Virtual Platform (VP). Today the VP comprises catalogues of
resources, registries, biobanks, knowledge bases and tools compliant with agreed standards
(https://vp.ejprarediseases.org). The WP13 of the DSH (in close collaboration with WP14-16) will scale
up the VP by integrating case studies from the Clinical Research Network (CRN) and Joint Transnational
Call (JTC) funded projects, triggering the development or refinement of existing services and tools for
future reuse. Being designed as a virtuous cycle that can be triggered at any stage and by any ERDERA
case study or project, the DSH will ensure integration, compliance, and findability of the outputs in the VP.
Specifically, WP14 will provide methodologies and tools for data capture. It will enable, on one hand,
the resources to describe their data and exchange formats, Application Programming Interfaces (APIs),
access permissions, and analysis capabilities using ontology-based machine-actionable models allowing
automation agents to read this information and perform appropriate actions. On the other hand, it will
develop data ingestion services leveraging on RD projects like EJP RD and Solve-RD.
WP15 will provide methods, tools, and infrastructure for data deposition, sharing, and analysis. It aims
to sustain and adapt resources for large-scale collaborative data analysis, focusing on implementing portable
pipelines enabling federated multi-centre analysis, and developing the necessary infrastructure for secure
processing environments. To that end, ERDERA will strive to use EU capacities such as those from the
Euro-HPC Joint Undertaking, another Partnership under Horizon Europe, by following available
standardised application process and discussing collaboration models to improve EU cooperation and
capacities on health data in general. Scaling up of patient sample size, coupled to environment respecting
legal and ethical considerations, will facilitate coordinated queries and analyses. Such federated learning
will be directly used to discover gene-disease associations and identify modifiers in molecularly diagnosed
cases. To accelerate the innovation of knowledge modelling and exploitation the DHS will develop and
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integrate pre-existing knowledge resources around Rare Diseases maps (WP16). For this purpose, it will
create and align knowledge bases and ontologies needed for PCOMs/PROMs, antenatal phenotypes, and
rare disease (bioinformatic) networks. Designed to scale with the number of projects funded through JTCs
and the CRN, it will provide them with applications for data annotation, genetic variant analysis, molecular
pathway & networks to investigate undiagnosed cases, molecular causes of how treatment works and
compare with existing treatments and innovative RD research. Ultimately, the DSH will provide
standardized and scalable methods, tools, and services embedded in a data ecosystem.
The Expertise Services Hub (ESH) will provide know-how and support on specific aspect of
translational research and clinical studies to all ERDERA partners and all funded projects. It is
recognized that the translation process is long, complex, and requires strategic planning, as it involves
multiple disciplines beyond science, such as regulatory science, health technology assessment (HTA), data
and innovation management. Most of the time such knowledge is not instantly available to research teams,
thus likely impacting the expected outputs and their relevance. The ESH WP17 will focus on mentoring
in the translational research process, which is crucial for the effective development of knowledge from
biological discovery to application level, and vice versa. To address this, the pool of mentors will be
available to the research teams, applying to JTCs and CT calls, from the application stage (full proposal).
Mentors will guide the project team through the expected and predicted translational bottlenecks and help
in identifying specific gaps that may require adjustment of the proposal content and, eventually, additional
expertise. This shepherding support will continue once the projects are financed. Furthermore, to assess the
potential need for additional more extensive support based on a consultancy model, a feasibility study will
be conducted and informed by user experience and mentors’ feedback. It will also help in defining a
potential business model for the long-term sustainability of the service.
Regulatory science is vital for ensuring that scientific research and its resulting products and technologies
are safe, effective, ethical, and environmentally friendly, thereby promoting innovation, building public
trust, and facilitating marketing of products. Thus, regulatory support must be integrated as part of the R&D
process. ERDERA’s WP18 will provide regulatory support through a dedicated group of regulatory
experts from various sectors including industry, academia, not-for-profit organizations, patient
representatives, and public sector. The establishment of an effective monitoring, assessment, and support
process, which is conducted in close collaboration with other WPs, will be central to this service to ensure
that all regulatory needs are prioritized and adequately supported. The Regulatory Support Group will be
responsible for providing relevant expertise, guidance, and recommendations. Regular liaison with the
Ethics Advisory Group will be maintained to ensure alignment on ethical and regulatory strategies and to
jointly address requests for support. Overall, this support service will play a crucial role in navigating the
complex regulatory landscape, ensuring ethical alignment, and providing ongoing support to all
stakeholders involved in the translational and clinical research and processes.
In the context of rare diseases, the available information per subject is substantial (often linked with patient
diagnostic journey), but the number of subjects is typically small, which leads to complex, multivariate data
that may include outcomes of different data types, measures taken longitudinally, hierarchies in the data,
and general incompleteness. Therefore, it is crucial to apply methodology that is statistically adequate
(precise and unbiased) and computationally feasible, while ensuring proper integration of clinical trial and
Real-World Data, such as epidemiological studies and registry data. The WP19 will provide Clinical
Trials/Studies methodological support, building on the collaborative tradition of IdeAL, ASTERIX,
InSPiRe19 [1], and the EJP RD20. Various methods, including likelihood and Bayesian methodology,
randomization-based methods, and methods based on generalized pairwise comparisons, will be
considered. The expertise will be provided directly to research teams and liaison with the Regulatory
Support Group will be established to discuss the possibility of undertaking the EMA Qualification
Procedures for the innovative methodologies to be developed, in order to further enhance their efficient
transfer to the clinical field (i.e., to the Clinical Research Networks and other centres throughout the EU
where clinical trials and other empirical studies are conducted).
Education and training in rare diseases research
19
https://tinyurl.com/mrdms2nw
20
https://www.ejprarediseases.org/funded-projects-demonstration/; https://www.ejprarediseases.org/funded-projects-internal-call-for-
innovation-project-in-clinical-trials-methodology/
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The Education and Training is crucial for building and sustaining the capacity of the RD research and
innovation community. Important gaps remain, and novel needs must be continuously monitored and
addressed across multiple dimensions including career stages, multistakeholder community, geographical
regions and research and innovation developments. ERDERA, is strategically positioned to address these
needs by acting as a direct provider, major contributor, and collaborator in education and training activities,
as well as an advisor for education-related policy and decision-making. The Education and Training
workstream proposes dedicated program that is comprehensive and targets general overarching
needs in RD research, with a focus on highly specialized and intermediary levels of expertise. It is
organized thematically to empower multistakeholder communities, including patients, young researchers,
and professionals involved in RD diagnostic research, research methodologies, translation of research,
clinical research and data science. A blend of online and face-to-face training courses, as well as the
implementation of an interuniversity European diploma, are part of ERDERA's operational approach to
building capacities. Key components include the engagement of international multistakeholder faculties,
wide geographical coverage of trainings, a gradual and scaled approach to trainings according to the
learner's level of expertise, development of open and shareable educational resources, and application of
the train-the-trainer principle. ERDERA also focuses on increasing participation of underserved groups and
learners from underrepresented countries by offering fellowships for training courses and implementing
specific measures in other ERDERA workstreams. The program involves various education and training
providers, including universities, medical and nursing schools, professional organizations, ERNs, patient
organizations, and research performing organisations. It encompasses diagnosis, integrated and coordinated
care, patient empowerment, and research themes, while avoiding duplication of efforts and sharing
responsibilities among all providers. This workstream will not only empower the current generation of
researchers, clinicians, and other professionals involved in RD research but will also nurture the next
generation of experts.
The ERDERA’s Acceleration Hub is designed to translate scientific findings in the biomedical domain
into socio-economic value. The average cost of getting a new medicine into marketing authorization
exceeds USD 2 billion21 [3],[4], making early translation particularly difficult. This stage, known as the
'Valley of Death,' is crucial for academia and non-profit organizations to undertake given the challenging
market conditions for industrial development in rare diseases (RD). Thus, academia and their funders play
an important role in RD innovation by 'de-risking' projects, building a strong knowledge dossier about the
target, disease, and intervention so that commercial and other stakeholders would invest in the costly
clinical development pathway and implementation into the healthcare domain. ERDERA aims to create an
accelerator framework to address above-mentioned challenges by leveraging public and private expertise
in disease biology and technology development, as well as clinical expertise available in the CRN.
Specifically, the Technology Accelerator (WP21) focuses on streamlining promising gene transfer
technologies, including in vivo delivery of recombinant nucleic acids using adeno-associated virus (AAV)-
derived vectors, messenger RNA (mRNA), and delivery systems such as lipid nanoparticles and
extracellular vesicles. These delivery systems can be used for newly developed gene editing technologies
aimed at curing the cell's genome through in vivo or ex vivo strategies. WP21 will address improved
manufacturing processes, analytical characterization, demonstration of clinical utility, and evaluation of
therapy response and immunogenicity issues related to in vivo administration of ATMPs. The addressed
tools, methods, and protocols will receive continuous advice, monitoring and assessment mechanisms from
the Expertise Service Hub. The most promising technological strategies/platforms will be further explored
in WP11, in alignment with the prioritized diseases. Outputs of WP21 will also be considered for the
selection of case studies in WP12, and to support possible applications to JTCs fostering therapy
development topics in years 4-7. A strong involvement of industry partners, each providing significant in-
kind resources and expertise for the technical development tasks, will ensure rigorous development
planning and timely engagement of regulators, so that outputs are qualified in the context of use. By creating
systemic and open access solutions, the Technology Accelerator aims to broaden EU innovation capacity
and increase the number of projects entering clinical development.
To complement ATMPs technological developments and to streamline the advancement of other promising
early-stage diagnostic or therapeutic interventions by leveraging on Public-private Collaboration
21
https://tinyurl.com/yjmrectb, https://tinyurl.com/2z423yds
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acceleration, the WP22 will create an innovation marketplace. This marketplace will connect promising
RD projects with R&D experts, patients, and public and private investors to enable further development
and clinical implementation. Selection criteria, workflows, and legal documentation to identify, evaluate,
and select projects confidentially will be developed. The PPP Collaboration Accelerator will also engage
third-party investors and innovation funders (ranging from non-profit research funding philanthropies and
charities to corporate and independent venture capital as well as national and EC innovation funding
vehicles such as European Innovation Council and Eureka), leveraging on the proven concept of the FFRD
Proof-Of-Concept Club, to create a vibrant group of funders willing to commit resources to selected
projects. Selected projects will be supported to become investment-ready through business planning,
coaching, and non-clinical development also in collaboration with other relevant synergistic initiatives like
REMEDi4ALL (drug repurposing), EU PEARL (advanced trial design/platform trials), RD Moonshot or
IHI projects supporting RD. The goal is to secure a path to clinical implementation for each project, either
through commercialization via out-licensing, collaborative development, or a non-commercial
implementation strategy.
The (Inter)national Capacity Alignment workstream is a foundational block of ERDERA that fosters the
coherence and contribution of the national/local and international RD research activities and
resources with the Partnership and within the overall RD ecosystem. It will also watch over the already
pooled national resources committed through the letters of intent of ERDERA’s partners from 28 EU
countries. To that end WP23 aims to develop and promote the so-called National Mirror Groups
(NMGs) that will be at the heart of national activities and RD strategy by bringing relevant stakeholders,
facilitating interactions, collecting comparable information on national RD activities, and generating new
knowledge to optimize synergies for greater alignment. The outputs of NMGs will be shared to adapt
EREDERA’s activities by addressing National RD research needs. In return, ERDERA’s services and
results will be promoted at the national and local levels.
WP24 focuses on the engagement of underrepresented countries by identifying specific requirements
and expectations, assessing conditions and barriers, establishing synergies, undertaking advocacy and
awareness-raising actions, and developing guidelines and programmes. This will encompass mapping
exercises, RD research activity assessments, knowledge exchange, cooperation with relevant identified
entities, benchmarking, and analysing existing measures and guidelines. Finally, WP25 will amplify the
impact and effectiveness of global collaborative efforts and drive transformative change at
international scale by aligning the research strategy of the ERNs, engaging with IRDiRC and supporting
its scientific secretariat, establishing international strategic alliances and organizing joint workshops and
conferences with Clinical Research Networks from all over the world. Continuous liaison with all ERDERA
workstreams will be ensured to align and synergize efforts, with a particular focus on the RD research
funding, the Clinical Research Network, and the Education and Training in RD Research.
1.2.2 Social sciences and humanities: People with rare diseases often experience unique challenges,
including delayed diagnosis, limited treatment options, and social isolation. Aiming to contribute to the
General Objective 3 “better understanding of the impact of RD on patients, families and society”,
ERDERA will help in understanding the psychological, social, and cultural impacts of living with a rare
disease for the development of better support systems and interventions that address the specific needs of
individuals and their families. The interdisciplinary approach will combine medical, genetic, and
biological research with insights from Social Sciences and Humanities (SSH). This approach will lead to
a more holistic understanding of rare diseases and the development of comprehensive solutions.
The PPIE Patient and Public Involvement & Engagement group, formed from representatives of
participating patient organizations, will ensure that all activities are led by patients' needs. The JTCs will
cover topics of interest for patients including human and social sciences and interdisciplinary research,
leveraging on the experience gained from the EJP RD JTC 202120. The NSS will foster support to events
involving PLWRD and fund opportunities addressing SSH challenges and knowledge sharing. Moreover,
the outcome research activities of the CRN (particularly WP10) are anchored in SSH field through the
PCOMs research that enables person-centred health and social care22, and the estimation of the
socioeconomic impact of RDs in Europe based on real-world data and disease modelling approaches.
Additionally, a team of economists is included as an integral part of the WP1. Leveraging expertise from
economic and business sciences will be instrumental in shaping and implementing exit strategy from the
ERDERA’s inception to its conclusion and beyond. Drawing from the economic theory and literature, this
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team will seek to design the most suitable incentives for long-term commitment and value creation.
Furthermore, the ethics management activities (as part of the Humanities) will contribute to providing a
framework for decision-making that considers the rights, values, and preferences of all stakeholders for
addressing issues and dilemmas around use of experimental treatments, access to limited resources, and
participation in clinical trials. Finally, the PPIE group and the communication team, as well as the ERDERA
multistakeholder trainings, will enable effective communication between patients, healthcare providers,
and researchers. Along with the NMGs action, they will help in understanding and considering the cultural
factors that can influence the perception, experience, and management of rare diseases, supporting a
culturally sensitive interventions and support systems.
1.2.3 Gender Dimension: The World Health Organization noted that gender inequalities hinder access to
healthcare, a situation exacerbated by the rarity, complexity, and severity of Rare Diseases (RDs) 23.
Moreover, there is a documented gender bias in RDs healthcare, with women typically being diagnosed
and treated later than men, leading to accelerated disease progression, and impacting quality of life,
socioeconomic status, and mental health. Additionally, women predominantly undertake informal care
tasks for relatives with RDs, leading to increased unemployment, vulnerability, and social exclusion.
ERDERA addresses these issues by considering biological characteristics (age and genetic background/sex)
and social/cultural factors (gender) in its approach. Inclusion of sex, gender, and diversity as part of research
approach will be crucial to obtain access to ERDERA funds. This will be reflected in calls for funding
opportunities, proposal evaluations, funded project and in-house activities monitoring, assessment and
reporting. ERDERA will ensure communication, dissemination and exploitation activities include all
dimensions, particularly when the patient and/or carers’ perspectives are sought, by using neutral language;
selecting inclusive visual materials representing the whole range of gender/sex and underrepresented
population; prioritizing women's participation in all the dissemination, communication, advisory boards
and training actions; and monitoring the above-mentioned aspects during ERDERA execution. All the
partners are committed to equal opportunities in team composition and will continuously assess all
dimensions to identify any other areas with potential gendered impacts.
1.2.4 Open Science: Implementing Open Science practices as a standard for pre-competitive research
activities will advance science while preserving commercial potential to incentivize further innovation in
RD research and other connected R&I, as part of the ERDERA’s IP management strategy. Partners will
formally agree on the review of Open Science processes and methodology from the start and through
provisions of the Consortium Agreement. It is important to note that business stakeholders, who are
important players in the ERDERA, may be deterred from participating in the innovation process if there is
no IP protection to safeguard their investments and market position. Therefore, new knowledge generated
from translation and applied research should be IP protected to maintain commercialization potential, while
supporting early-stage fundamental discoveries that should be open access to advance science. ERDERA
aims to establish an Open Innovation ecosystem that aligns with the EC's Responsible Research &
Innovation goals24. After securing essential IP rights/interests, ERDERA outputs will be made available
through open access and following the "as open as possible as closed as (strictly) necessary" principles. A
preliminary list of deliverables suitable for public distribution is presented in table 3.1c. Whenever possible,
the publication on the Open Research Europe platform will be supported, and for field-relevant journals
any paywall restrictions will be avoided thanks to publishing routes (green, gold, or diamond). Publications,
including newly developed methods protocols, will be shared at an early stage through pre-print repositories
(e.g., BioRxiv) to allow transparent feedback before journal submission. Relevant high-visibility journals
will be selected. Publications will be shared, promoted, and advertised on the ERDERA website, but also
through relevant social media channels to encourage future citations and global visibility of ERDERA. To
prioritize transparent disclosure and availability of data, processes, materials, and methods for use and
replication by the wider research community the Zenodo open repository as well as other focused
directories will be utilized. Relevant scripts and codes generated will be published on GitHub to promote
systematic sharing and collaboration and facilitate the application of newly developed computational
methods across partners. Once fully developed, these scripts and codes will be made publicly available and,
where applicable, compiled into open-source software for bioinformatics, such as Bioconductor. Other open
science practices, such as early and open sharing of research negative outcomes, and preregistration, will
be evaluated in the context of establishing an IP management strategy (see section 2.2.c Management of
Intellectual Property) in close collaboration with the WP2 to maximize ERDERA’s impact.
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1.2.5 Data Management Plan: ERDERA will collect and work with a variety of data types. It will develop a
sustainable Data Management Plan (DMP), with the support of the Data Services Hub and the Expertise
Services Hub, within the first six months of the project to ensure the accountability and reliability of the
data, which considers appropriate IP protection and is compliant with ethical rules, standards of research
integrity, FAIR principles and GDPR. When finalized, it will be reviewed and agreed by all Beneficiaries
followed by formal signature. It will be constantly updated, and the resulting version will be submitted at
each reporting period. The DMP will cover the following aspects: i) handling of research data (and other
outputs) during and after the project; ii) types of data to be collected; iii) application of data methodology
and standards with inputs from the stream “Data services Hub”; iv) mode of sharing and accessing data;
and v) data curation and preservation. The DMP will outline the project's scientific, technical and
organizational details for data and metadata collection, storage, retention, accessibility, privacy,
confidentiality, destruction, quality assurance, backup, and resource allocation. The DMP will comply with
all relevant national and EU laws for the protection of personal data, and confirmation of compliance will
be requested to all the ERDERA partner organizations including the ones of the funded projects. The DMP
will also include permissions to collect, use, reuse, and merge data from relevant authorities or primary
owners/data controllers for relevant activities such as the ones of the CRN. ERDERA will employ the Data
Stewardship Wizard (DSW) to develop the DMP as recommended planning tool by the Horizon Europe
Program Guide. DSW allows assessment of the level of FAIRness of the research DMP, which will enable
ERDERA to continuously improve its handling of data throughout the partnership's duration, provide
guidance to external users, and enhance the reproducibility of research results. These improvements are
essential for successful collaborations with all the partners and effective management of intellectual
property. The data generated will be subject to ethical and data protection regulations, and efforts will be
made towards full digitalization of the research activities, including the use of standardized digital tools for
the definition of workflows and procedures for wide sharing and usability of research outputs across the
consortium. To ensure explicit provenance and reproducibility, supporting metadata will accompany all
records. Enriching the metadata with open ontologies to optimize data interoperability will be considered.
Where needed, electronic data/metadata will be stored on the ERDERA Data Hub and on the collaborative
platform (Microsoft 365 with EU servers) for collaborative purposes, secure distribution, tracking of
progress and deliverables, and identification of IP potential. Privacy by design and procedures to mitigate
potential reverse engineering and unforeseen disclosure will also be covered in the DMP. The whole data
architecture will be subject to risk assessment to guarantee security, ethics, and privacy. This will ensure
that the data collected is properly processed and managed, with the help of appropriate safeguards and
measures in compliance with ethical standards and GDPR regulations. Public content such as public
deliverables, workshops, training/info sessions, scientific meetings, and brokerage events will be shared
openly on the ERDERA website. Finally, to design a DMP adaptable to a growing degree of data
complexity ERDERA will leverage on partners’ experience in projects with similar DMP demands,
particularly those involved in the Data services Hub and the Acceleration Hub workstreams, contributing
to the open science agenda of the EC and publishing FAIR Research Infrastructure data resources; making
tools and workflows interoperable and reusable and setting policies, specifications and tools for the
management of data for scientific research. The ERDERA DMP will be a dynamic document, updated
regularly, incorporating inputs and evolution from the engaged partners and the RD community.
1.2.6 Artificial Intelligence (AI) will be employed in several ERDERA activities including data integration
(WP14) and analysis (WP15), serving for large-scale analyses including both genomics and multiomics as
well as for high-performance computing pipelines (WP6, 8 & 15). It will also be used for Drug
Development processes, including disease prioritization, (WP11), drug formulation (WP21), and clinical
trial simulation (WP9). AI also aids in the development of knowledge bases and ontologies (WP16).
ERDERA will enable a federated learning infrastructure through AI exploitation (WP15) addressing thus
ELSI, GDPR and scalability issues encountered with centralized analysis. As described in the Annual Work
Plan Year 1 (AWP Y1), the DSH will develop and/or use AI approaches following requirements for
technical & social robustness, accuracy, reproducibility, reliability, and explainability. It will provide
quality processes, minimize inaccuracies, validate techniques, and compare the performance of hybrid
intelligence to manual approaches. Methods that do not meet these requirements will be discarded criteria
(see WP13 methodology in AWP Y1). Additionally, during the development of the AI-based system in the
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technology accelerator, the GAMP522 and Quality by Design23 good practices will be implemented by
addressing the above specific requirements all along the development cycle (see WP21 methodology in
AWP Y1). All those specifications are considered as Critical Safety Attributes that will be included in the
pharmaceutical Quality by Design paradigm of development recommended by the FDA and EMA in the
ICH Q8(R2) guidelines. The monitoring of the Ethics compliance task, will support AI developments and
implementations to be made socially robust, considering the RD specific context and environment of
operation. Whenever they have a significant impact on people living with RD, (such as RD diagnosis &
drug development prioritisation) the support will help in making AI systems designed to provide a suitable
explanation of their decision-making processes. Importantly, the Expertise Services Hub will support the
fulfilment of such requirements, from both the methodological and regulatory perspective. Among others,
this latter workstream planned a deliverable that describes the State-of-the art methodology (including AI)
that is efficiently transferrable to partners.
22
Martin, K. C., & Perez, A. (2008). GAMP 5 quality risk management approach. Pharmaceutical Engineering, 28(3), 24.
23
Holm, P., Allesø, M., Bryder, M. C., & Holm, R. (2017). Q8 (R2) Pharmaceutical Development. ICH quality guidelines: an
implementation guide, 535-577.
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2. Impact #@IMP-ACT-IA@#
2.1. Project’s pathways towards impact
All below mentioned Impacts and Expected Outcomes, stemming from the call text (HORIZON-HLTH-2023-DISEASE-07) and addressed by ERDERA are
aligned with three Sustainable Development Goals and their respective chosen targets:
• SDG3: Ensure healthy lives and promote well-being for all at all ages:
o Target 3.4: By 2030, reduce by one third premature mortality from non-communicable diseases through prevention and treatment and promote mental health and
well-being.
• SDG9: Build resilient infrastructure, promote inclusive and sustainable industrialization and foster innovation:
o Target 9.5: Enhance scientific research, upgrade the technological capabilities of industrial sectors in all countries, in particular developing countries, including,
by 2030, encouraging innovation and substantially increasing the number of research and development workers per 1 million people and public and private
research and development spending.
• SDG 10: Reduce inequalities:
o Target 10.2: By 2030, empower and promote the social, economic and political inclusion of all, irrespective of age, sex, disability, race, ethnicity, origin,
religion or economic or other status.
Each of the ERDERA’s target has been labelled accordingly to identify specific actions that will contribute to the respective SDGs and their targets.
Expected 2.1.1 The EU is reinforced as an internationally recognised driver of research and innovation in rare diseases (RD) and thereby substantially contributing to the
Outcome (EO)1 achievement of the Sustainable Development Goals related to rare diseases
Already achieved/available ERDERA’s target (game changers by 2034) (SC-scientific, SOC-societal) (ET-
economic/technological)
Contribution to EJP RD funding programme allowing on annual alignment of involved (SOC, SDG3, 10) Joint EU RD research strategy framework designed to optimise
EO (including funders (33 funders). limited resources through decisive investment addressing unmet needs of
scale & underrepresented RDs and therapy development gaps for all conditions (38 funders,
significance) Call for EU Rare Diseases Action Plan published as part of Rare2030 industry associations, European Commission, charities)
strategy. (SC, SDG10) The asymmetry of knowledge and skills is closed, and national
leverage potential (including underrepresented countries) is maximised & tailored
Dedicated widening measures have been put in place to accelerate solutions provided (funding, education, expertise). Specific needs and expectations of
participation of underrepresented countries + EJP RD proof-of-concept for UCs addressed, collaboration fostered, and inclusion of UCs - researchers and patient
National Mirror Groups organisation + Expansion of ERNs to new sites populations - in R&I programmes boosted.
(often from underrepresented countries) translating to new patient (ET, SC, SDG3, 9) ERDERA focus on implementation including: (ii) enhanced,
populations, researchers, academic and clinical partners availability to generically applicable and scalable diagnostic solutions, (iii) generalizable models for
Partnership. use of primary healthcare, population-based and cohort study data (15 models),
(iv) a blueprint and inventory for regulatory-grade RWD data sets, and (v)
Biological pathways building methods (WikiPathways), Treatabolome, innovative drug development tools (2), (i) ATMPs technology accelerator
PCOMs/PROMs repository generating tech disruption, accompanied by standardization and regulatory
compliance/acceptance available to the community.
ATMPs platform models (e.g. Bespoke Gene Therapy Consortium) coupled (ET, SDG9) ATMP technology and clinical support and expertise in one place
to EU (distributed) excellence in the field. accelerating implementation of related clinical studies and increasing the
attractiveness of the EU ecosystem for companies.
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Diagnostic research framework that is based on a few ERNs and enables (SOC, SC, SDG3, 10) DiagnosticAssociated with document Ref. Ares(2024)5602406 - 02/08/2024
research solution that fosters equal opportunities for
research re-analysis of undiagnosed RD patients (Solve-RD) (participating) EU countries to deliver timely diagnostics to patients with rare diseases,
and (ii) establishes the foundation of an internationally coordinated and federated
diagnostic research program for suspected RD patients which could not be diagnosed in
the diagnostic setting.
Target groups PLWRD, industry/private sector, research community, regulatory authorities, public decision makers, healthcare providers & authorities
Requirements & Fast-paced changing technologies impacting both the research strategy framework and new technological developments. New pharmaceutical Directive and Regulation
potential barriers impact the development of new RD therapies (including ATMPs)
Mitigation Governance & management structure of ERDERA is equipped with robust horizon scanning to detect technological progress and any forthcoming
measures legislation/regulatory changes on time and encompass it within strategic R&I agenda and investments.
Establishing a Dedicated Task Force for Regulatory Adaptation and Technological Innovation & Enhancing Collaboration with Regulatory Bodies (WP18)
Strengthening Partnerships with Technology and Pharmaceutical Companies (WP21)
Enhancing Collaboration with Regulatory Bodies (WP20)
Implementing Advanced Data Analytics and AI for Horizon Scanning (WP1 & WP15)
Creating a Flexible Funding Mechanism (WP3)
Use PPIE activities to provide valuable insights into the practical impacts of technological and regulatory changes.
Promoting International Collaboration and Knowledge Exchange to expand international collaboration with other countries and regions (WP25)
Expected 2.1.2 Research funders align, adopt and implement their RD research policies allowing for the optimal generation and translation of knowledge into meaningful
Outcome (EO)2 health products and interventions responding to the needs of people living with a rare disease across Europe and globally
Already achieved/available ERDERA’s target (game changers by 2034)
Contribution to A pre-existing joint support for multinational research projects through (SOC, SC, SDG3, 9) Long-term commitment and sustainable multination funding to
EO (including competitive funding often considered as the only source of RD-specific support of basic, translational and clinical research (commitment to ERDERA of 167.5
scale & funding at national level (83.5 M€ invested in EJP RD). Research M€ in cash without associated partners, and up to 180.8 M€ in cash with the inclusion
significance) component in RD strategies/plans in only few countries. of associated partners), and integrated in national RD strategies/plans (for at least
50% of involved countries).
EU infrastructures to support pre & clinical research (e.g. EATRIS, ECRIN, (SC, SDG9) Integrative expertise support and shepherding timely accessible and
BBMRI, INFRAFRONTIER, C4C) + Proof-of-concept for RD expertise deployed at all levels of project development (for at least all projects to be funded within
support services of EJP RD including reusable data generation the Partnership & offered as sustainable service after the lifetime of the Partnership
(FAIRification). grant) + data services ecosystem to ensure reusability of ERDERA funded research
projects results.
RD Patients represented in the governance of different RD programmes + (SOC, SDG10) PLWRD are equal partners in all stages of the research process
EJP RD concept for patients funding in research projects. including governance and execution. All ERDERA funded projects include PLWRD
as co-designers (minimum of 100 projects).
Target groups Funders, policy makers, research community, PLWRD, research infrastructures, healthcare providers & authorities
Requirements & Overarching socio-political forces driving national prioritization/roadmaps and impacting long-term commitment to RD funding and research infrastructures.
potential barriers
Mitigation ERDERA’s communication & dissemination strategy to policy makers to highlight the importance of RD research and the need for sustained funding (including for
measures example, Utilizing real-life stories and data on the impact of RDs to foster a supportive socio-political environment).
Implementation of National Mirror Groups to drive alignment of priorities between national stakeholders and ERDERA.
Expand funding Mechanism to other source of funding (public-private collaborations, international collaboration and funding agreements
Strategic Use of Data and Evidence: Generate and disseminate compelling evidence on the socio-economic benefits of investing in RD research, including potential
savings for healthcare systems and improvements in patient outcomes (WP10)
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Expected 2.1.3 The RD research community at large benefits from and use an improved comprehensive knowledge framework integrating the EU, national/regional data
Outcome (EO)3 and information infrastructures to improve translational research
Already achieved/available ERDERA’s target (game changers by 2034)
Contribution to RD Ontology (ORDO) and RD knowledge bases (Orphadata, (SC, ET, SDG3, 9) ERDERA’s Data Service Hub (as CRN and funded projects core
EO (including Treatabolome, RD-WikiPathways) and repositories (RD support structure) orchestrating the FAIRification of existing and newly collected
scale & PCOMs/PROMs), implementable data standards, FAIR standards and research and clinical data (including from funded research projects & CRN), linking
significance) methods, EJP RD Virtual Platform model, tools and specifications + ERN Health & research data from EU, international to National level and enabling its
registries and other RD-Ready resources like ERDRI, 1+Million exploitation to generate high-quality, regulatory compliant evidence to guide diagnosis
Genomes/GDI, national initiatives to create data hubs and EHDS. and development of treatments.
Data Analysis Task Force/Data Interpretation Task Forces
collaborative model for solving the unsolved RD (Solve-RD) (SC, ET, SDG3) Data Analysis Task Force/Data Interpretation Task Forces
Close collaboration with initiatives such as the Critical Path Institute (C- collaborative model brought to the next level so that newest-technologies-based
PATH), the Global Alliance for Genomics and Health (GA4GH), the discoveries and the federated diagnostic research approach enable an agile and
Research Data Alliance (RDA), EOSC, EHDS, bridging public, private and continuously growing diagnostic research knowledge base.
regulatory bodies joint undertakings.
Target groups Research community, patient organisations, research infrastructures, regulators
Requirements & Fast moving technologies impacting uptake of proposed solutions. National and EU data-related regulations and legislations. Possible lack of manpower at certain
potential barriers levels (especially healthcare provider/hospitals) and lack of mutual trust and understanding amongst the stakeholders impacting research-healthcare interactions.
Mitigation Governance & management structure of ERDERA is equipped with robust horizon scanning to detect technological progress and any forthcoming
measures legislation/regulatory changes on time and encompass it within strategic R&I agenda and investments. Continuous dialogue with regulators (EMA, FDA) and national
authorities as part of the strategic and research activities to ensure two-way feedback and backed by ethical, legal and IPR expertise on data access and reuse of
ERDERA. Establishment of CRN that encompasses both research and clinics components. Funding provided for data management within ERDERA funding schemes
and CRN. Communication dedicated to different types of stakeholders fostering information on data sharing, its ELSI aspects, challenges and benefits.
Expected 2.1.4 People living with a rare disease benefit from a more timely, equitable access to innovative, sustainable and high-quality healthcare, taking stock of highly
Outcome (EO)4 integrated research and healthcare systems
Already achieved/available ERDERA’s target (game changers by 2034)
Contribution to European Reference Networks as backbone of clinical/research expertise. (SOC, SC, ET, SDG3, SDG9) Sustainable European Clinical Research Network
EO (including bridging ERNs expertise and capacity with technological infrastructure (Data Service
scale & Innovation in space of CT methodologies (EJP RD, Asterix, Ideal, Inspire) Hub) as well as methodology and regulatory support (Expertise Hub) to generate high-
significance) & RD PROMs (ERICA). quality evidence for diagnosis and treatment development acceleration.
(SOC, SC, ET, SDG3, 10) Scalable and federated diagnostic pipelines, workflows
First large diagnostic research re-analysis performed by Solve-RD provided and solutions empowering national diagnostic centres and stakeholders, encompassing
cost-effective model for collaborative diagnostic research leading to EU & Associated countries and based on shared standards, guidelines, knowledge bases
additional >10% diagnosis of included undiagnosed RD patients. and practices allowing on acceleration of diagnosis and solving of at least 20% of
unsolved cases. Translation/operationalisation of research outputs in clinical settings is
accelerated by National Mirror Groups.
Target groups PLWRD, healthcare providers, researchers, research infrastructures, general public, EU and national policy makers
Requirements & Political support to European Reference Networks and their integration in national healthcare systems. Member States readiness level (technological and legal – related
potential barriers to (re)use of healthcare data) to integrate proposed healthcare/diagnostic solutions.
Mitigation Focus on demonstration of clear outputs and impact via Partnership’s maximized dialog with key stakeholders (policy makers, hospital managers) as part of
measures communication & dissemination actions as well as regular key point on the agendas of National Mirror Groups and Governing Board.
Expected 2.1.5 Researchers, innovators - as well as people living with a rare disease and their advocates (as co-creators) - effectively constitute and operate into an integrated
Outcome (EO)5 research and innovation ecosystem to deliver cost-effective diagnosis and treatments
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Already achieved/available ERDERA’s target (game changers by 2034)
Contribution to EJP RD programme encompassing about 85% of European RD research (SC, SOC, ET, SDG3, 10) Consolidated Alliance, geographically comprehensive and
EO (including community (mostly consisting of public sector researchers from different encompassing all types of actors along the health and research value chain (171
scale & academic and medical disciplines, research infrastructures as well as RD partners in ERDERA). Targeted expansion to Eastern Europe and North Africa, through
significance) patients and representatives). the approach to underrepresented countries from these geographical areas.
(SC, SDG10) Training delivered as integrative part of the research pipeline (at least
Diverse and dispersed training offer covering different types of stakeholders 180 trainings delivered, 10000 stakeholders trained, 8M€ dedicated): (i) to educate new
and topics often comprised at national/regional level. generations of RD clinicians/researchers, (ii) to upscale expertise of stakeholders, (iii)
to empower patients as equal partners in research.
Target groups Researchers, research infrastructures, PLWRD, industry, funders
Requirements & Member States ability to maximise and/or integrate the EU-level ecosystem created by ERDERA at national level and to feed in the Partnership with limited resources.
potential barriers
Mitigation National Mirror Groups supported by ERDERA as key players in national-EU alignment. Specific activities targeted specially to underrepresented countries to
measures build/increase their capacities. Targeting of additional sources of funding like structural funds.
Expected 2.1.6 Public and private actors, including civil society (e.g. NGOs, charities), establish coordinated and efficient multi-stakeholder collaborations at EU and
Outcome (EO)6 national (including regional) levels, allowing for more effective clinical research, for example aiming at improved success rates of therapeutic development
Already achieved/available ERDERA’s target (game changers by 2034)
Contribution to Growing interest from industry & eagerness to create new (SC, SOC, ET, SDG9) Consolidated Alliance breaking the silos between sectors
EO (including funding/collaborative models (e.g. initiatives like Together4RareDiseases, (public 141/ private 30 [including but not limited to 12 organisations from the
scale & RD Moonshot). pharmaceutical industry sector, 7 SMEs, 5 non-for profit organisations]) and
significance) communities (researchers, patients PAOs, healthcare providers, regulators) and
Call from PLWRD on integration of all stakeholders to boost RD research building bridges to new groups of countries in Europe and beyond (at least 20 new
(Rare 2030 recommendations). stakeholders/institutions involved).
(SC, ET, SDG9) Public early-stage investment (167 M€ committed by beneficiaries,
Other public-private partnerships/initiatives (e.g. IHI, EUREKA) [180.8M€ committed by beneficiaries and associated partners]) coordinated with later
stage investment by private sector and philanthropy (7.3 M€ current contribution to
ERDERA maintained or increased).
Target groups Researchers, industry, research infrastructures, funders, PLWRD, healthcare providers, regulators, policy makers
Requirements & Reliance on other sector(s) continued interest (e.g., private sector) and heterogeneity of regional readiness to engage on long-term.
potential barriers
Mitigation ERDERA’s activities as demonstrators for mutual value creation (e.g., integration of innovative research, technology and clinical activities under one umbrella).
measures Governance adapted to encompass and focus on joint priorities.
2.1.7 In addition, ERDERA will contribute to the following overarching impacts of the Work Programme destinations in Horizon Europe:
Impact Health burden of diseases in the EU and worldwide is reduced through effective disease management, including through the development and integration of innovative
early diagnostic and therapeutic approaches, personalised medicine approaches, digital and other people-centred solutions for health care. In particular, patients are
diagnosed early and accurately and receive effective, cost-efficient and affordable treatment, including patients with a rare disease, due to effective translation of
research results into new diagnostic tools and therapies
ERDERA’s Developed scalable and federated diagnostic pipelines, workflows and solutions, using reference data (ontologies and knowledge bases) and healthcare data (EHRs),
contribution improving pre-natal and post-natal RD diagnostic rates and generating shared standards, guidelines, practices and knowledge basis will empower national diagnostic
(SDG3, 9) networks, centres and stakeholders allowing a significant acceleration of diagnosis and solving of at least additionally 20% of undiagnosed cases compared to state of the
play in 2023. The development of treatments will be accelerated, and costs potentially reduced by providing standardized and regulatory compliant technological platform
solutions for ATMPs and N-of-few therapies. The effective translation for research into tangible results will be accelerated through their design with patients, mentoring
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and careful implementation of all funded projects (estimated min. of 80-100 of projects). Personal and societal RD burden will be decreased by the provision of tools for
better functional evaluation of patients and by facilitating the development of patient-centred research and personalized approaches.
Impact Health care systems benefit from strengthened research and innovation expertise, human capacities and know-how for combatting communicable and non-
communicable diseases, including through international cooperation. In particular, they are better prepared to respond rapidly and effectively to health emergencies and
are able to prevent and manage communicable diseases transmissions epidemics, including within healthcare settings.
ERDERA’s EU Clinical Research Network ERDERA’s structure based on the combination and interweaving of research, clinical, methodological, data, regulatory and technological
contribution expertise and training backed by the involvement of PLWRD at all levels will directly feed into a strengthen healthcare ecosystem. All aspects of ERDERA encompass
(SDG10) international dimension and thus ensure mutual knowledge sharing and timely access to additional resources.
Impact Patients and citizens are knowledgeable of disease threats, involved and empowered to make and shape decisions for their health, and better adhere to knowledge-based
disease management strategies and policies (especially for controlling outbreaks and emergencies).
ERDERA’s PLWRD involved at all levels of ERDERA (governance, strategy, research, etc.) are empowered by tailored processes, support, and training. Communication activities
contribution targeted to PLWRD but also other stakeholders including general public increase the knowledge on RDs.
(SDG10)
European Partnership [European Rare Diseases Research Alliance] 2.1.8 Monitoring and evaluation framework, version 1, [18/09/2023]
Overall vision: to improve the health and well-being of 30 million persons living with a rare disease in Europe, by making Europe a world leader in RD research and innovation, and
delivering concrete health benefits to rare disease patients, through better prevention, diagnosis and treatment.
What is a measure of Which is the data source | and methodology used Who is responsible for monitoring and Baseline and target
success? [project data, study, ….] | Unit of measurement providing the data/ information
When will it be collected?
GO1 Rate of diagnosed rare CRN & national RD diagnostic centres (Standard annotations (e.g.,
Responsible: CRN diagnostic research Baseline: 10-12,5% increase in
diseases cases through ‘semantic tags’ for diagnosed and undiagnosed) | The leaders (WP6-8) & Monitoring task leaders (genomic) diagnostic rate.
increase of acceleration of undiagnosed cases | (measured in coordination with national RD diagnostic Target: Y3: 15%. Y7: 20%
percentage) centres. Assessment frequency: Y3 & Y7.
GO1 Time to diagnose patients Responsible: Data Services Hub,
ERN registries | Improvement in the time to diagnoses of patient Baseline: 4 years. Target: Y7:
with a rare disease. Monitoring task leaders. Assessment
seeking medical attention for an unknown condition/ qualitative Time to diagnose decreases .
frequency: Y7/Y10. Y10: Time to diagnose decreases
GO2 New therapies approved for ERDERA publications, surveys; clinicaltrial.gov, EudraCT, FDA & Responsible: ERDERA monitoring task Baseline: number of existing RD
rare diseases UK(MHRA) reports and Databases, Orphanet | Number of new leaders & reporting system. Assessment therapies (as in Orphanet 2023).
therapies where ERDERA resources (Human expertise, developed frequency: >7Y (Y10). Target: Y10: at least 5% of new
tools, etc.) are/have been involved, as reported by the ERDERA therapies approved by EMA
partners and connected initiatives | Number (new therapies developed with the support of
approved for rare diseases) ERDERA
GO2 Clinical Trial Readiness Same as above GO2 indicator | Number of Clinical Trial Responsible: Task leaders (CRN and RD Baseline: 0. Target: Y3: 5. Y7:
Applications (CTAs) where ERDERA resources (Human expertise, funding workstreams) and contact-person 10
developed tools, etc.) are/have been involved, as reported by the of the connected initiative (listed in the
ERDERA partners and connected initiatives | Number of approved SRIA annex1). Assessment frequency: Y3
CTAs and Y7.
GO3 Policy changes related to RD NMGs Annual investigations (national plans/ surveys, Reports) | Responsible: To be collected annually by Baseline: 0. Target: Y3: TDB.
burden Policy changes refer to modifications made to existing rules, the National Mirror Groups. Assessment Y7: TBD.
guidelines, or procedures by governments or organizations aiming frequency: Y3 and Y7.
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to improve the assessment and understanding of the impact and
challenges posed by Rare Diseases on individuals and society.
Initiatives are specific actions contributing ultimately to policy
changes. The measurement of these will consider only those
impacted by ERDERA activities | Number of policy changes or
initiatives at local, national, and international levels aimed at
addressing the impact of rare diseases on patients, families, and
society.
GO3 Funding for research on the ERDERA Funding workstream and In-house research financial & Responsible: ERDERA monitoring task Baseline: Historic data from EJP
impact of rare diseases in administrative data (managed by the ERDERA call application leaders & reporting system in coordination RD (11.5M€). Target: Y4: TDB.
patients, families, and society portal that is part of the monitoring system) | ERDERA funding with the RD Funding workstream and In- Y7: increased by 50%. Y10:
dedicated to research activities on the impact of RD on patients, house research . Assessment frequency: TBD
families and society | Million € Y4 and Y7/Y10.
SO1 Projects outputs translated ERDERA Monitoring and reporting system/ Total number of RD Responsible: ERDERA monitoring task Baseline: 0. Target: Y3: 10. Y4:
into innovative RD (research) research projects supported by the Partnership (or a previous co- leaders. Assessment frequency: Yearly 15. Y5: 20. Y6: 25. Y7: 30.
models/solutions fund on Rare Diseases) resulting in new Clinical Studies, guidelines from year 3.
and patent applications/ Number
SO1 Public-private collaborations Coordination and Management workflow & monitoring and Responsible: ERDERA Coordination team. Baseline: Historic data from EJP
reporting system | Collaborations between academia and for profit Assessment frequency: Y3, Y5 and Y7. RD (4 collaborations). Target:
and/or non-profit organisations to develop and implement medical Y3: 5. Y5: 10. Y7: 18.
and holistic interventions for RD (MoUs/ Letters of
intents/Agreements/Pilots) | Number of new collaborations
SO2 Access to data sources ERDERA Data Hub & monitoring | Number of healthcare and Responsible: Data services Hub. Baseline: 20 (resources already
research data sources that are onboarded and made available for Assessment frequency: Every 2 years. onboarded on the EJP RD Virtual
scientific and regulatory evaluation and healthcare delivery | Platform). Target: Y2: 25. Y4:
Number 30. Y6: 40.
SO2 Use of data sources ERDERA Data Hub & monitoring system | increase of access to Responsible: Data services Hub Work Baseline: Number of VP Access
research data sources through the Virtual Platform | % Packages leaders. Assessment frequency: at the end of EJP RD. Target:
Yearly. Y0: +5% Y1: +5%. Y2-
Y5: +10% every year . Y6-Y7:
+5% every year
SO3 Capacity building of RD Training activity surveys & monitoring system | Number of patients Responsible: Workstream Education and Baseline: Historic data from EJP
patients empowered, within the Partnership, through capacity-building and Training leaders & PPIE. Assessment RD : 350 per year. Target: Y1-
training activities related to research | Number patients participated frequency: Yearly. Y7: 2500-3000 every year
at training activities per year
SO3 Patients involved in RD Funding workstream reports; Project reports; & monitoring system | Responsible: RD funding Workstreams Baseline: Historic data from EJP
funded projects Percentage of funded research projects that involve patient leaders & PPIE. Assessment frequency: RD: 60%. Target: Y1: 70%. Y2:
organisations as co-designers. | Percentage Yearly. 75. Y3: 80%. Y4: 85%. Y5: 90%.
Y6: 95%. Y7: 100%
SO4 Transdisciplinary training Data & Reports from Workstreams Education and Training & Responsible: Workstream Education and Baseline: 15 transdisciplinary
programmes as part of the RD Inter(National) Capacity Alignment workstream & monitoring Training leaders. Assessment frequency: programmes in EJP RD. Target:
research educational pipeline system | Number of transdisciplinary research training programs Year 3, 5 and 7. Y3: 60. Y5: 120. Y7: 180
developed and implemented at the European level | Number
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SO4 Alignment of capacity and Data & Reports from Workstreams Education and Training & Responsible: Education and Training & Baseline: 0. Target: Y3: 4%.
skills at national / local level
Inter(National) Capacity Alignment workstream & monitoring Inter(National) Capacity Y5: 50%. Y7: 100%
system | Number of national/local training and education programs Alignment leaders. Assessment frequency:
aligned with ERDERA (at least 1 training per Country; 37 Y3, 5 and 7.
Countries) | Percentage
SO5 National RD research and Coordination and Management workflow & monitoring system / Responsible: Coordination team & Baseline: 0. Target: Y3: 10. Y5:
Innovation Integration Number of countries with national RD research strategies aligned International Alignment Workstream 30. Y7: 50.
with EU and international collaborations supported by the leaders & NMGs. Assessment frequency:
Partnership | Percentage Y3, 5 and 7.
SO5 ERDERA RD research and Coordination and Management workflow & monitoring system | Responsible: Coordination team & Baseline: 0. Target: Y2: 2. Y4:
Innovation synergy with other Number of complementarities and synergies established with other International Alignment Workstream 5. Y6: 7.
programs relevant programmes and initiatives | Number leaders. Assessment frequency: Y2, 4 & 6.
OO1 Progress towards (financial Funding workstream reports & monitoring system | Percentage of Responsible: Funding workstream WP and Baseline: 167M€ of in cash and
and in-kind) contributions contributions achieved out of total commitments made by the task leaders & coordination team. 37M€ of in kind commitment.
from partners other than the ERDERA partners other than the European Commission at the Assessment frequency: yearly . Target: Y10: At least initial
Union beginning of the partnership/ Million € i.e., committed vs. actual commitment achieved
OO1 JTC funding spending for Funding workstream reports & monitoring system | Amount of Responsible: Funding workstream WP and Baseline: 26,5 M€ committed for
research funding provided to researchers through JTCs | Million € task leaders. Assessment frequency: the 1st year of ERDERA. Target:
yearly. Y7 : 76,8 M€
OO2 Integrated Data Service's ERDERA Data-Hub, monitoring system & coordination and Responsible: Data Service Hubs WP and Baseline: 0. Target: Y1: 30. Y2:
infrastructure Management workflow / Services provided by the integrated data task leaders, and Coordination team. 50. Y3: 70. Y4: 90. Y5: 110. Y6:
infrastructure/ Number Assessment frequency: yearly. 130. Y7: 150.
OO2 Integrated Expertise Service's ERDERA Data-Hub, monitoring system & coordination and Responsible: Expertise & Data Service Baseline: 0. Target: Y1: 20. Y2:
infrastructure Management workflow | Services provided (i.e., ELSI, IPR, Hubs WP & Task leaders, and 25. Y3: 30. Y4: 35. Y5: 40. Y6:
regulatory, methodology, etc.) by the integrated expertise Coordination team. Assessment frequency: 45. Y7: 50.
infrastructure | Number yearly.
OO3 NMGs created/ functioning International Capacity Alignment workstream (WPs) reports & Responsible: International Capacity Baseline: 4. Target: Y1: 14. Y2:
ERDERA monitoring system | Total number of NMG operational | Alignment WP and Task Leaders. 31.
Number Assessment frequency: Y1 and Y2.
OO3 Interactions/projects with International Capacity Alignment workstream (WPs) reports & Responsible: International Capacity Baseline: 0. Target: Y1: 1. Y2:
non-EU entities ERDERA monitoring system | Total number of interactions (e.g., Alignment WP and Task Leaders. 2. Y3: 3. Y4: 4. Y5: 5. Y6: 6.
good practices, harmonisation)/projects with International legal Assessment frequency: yearly. Y7: 7.
entities | Number
OO4 Capacity building Data & Reports from Workstreams Education and Training & Responsible: ERDERA monitoring task Baseline: Historic data from EJP
ERDERA monitoring system | Number of researchers/stakeholders leaders in coordination with training RD : 2500-3000 per year.
having benefited from upskilling activities (through training, leaders & contributors. Assessment Target: Y1: 4640. Y2: 6285. Y3:
mobility, and access to infrastructures) | Number frequency: yearly. 8150. Y4: 8760. Y5: 9360. Y6:
9960. Y7: 10570.
OO4 Funding invested into ERDERA monitoring system & coordination and Management Responsible: ERDERA Coordination team Baseline: Historic data from EJP
capacity building activities workflow, ERDERA periodic reports | Total Funding committed for & ERDERA monitoring task leaders. RD : 6.5M€ (overall budget for
training, mobility, and access to infrastructures | Million € Assessment frequency: yearly. Training & education activities).
Target: Y1-Y7: commitment
every year of 1.2M.
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OO5 Expansion to new ERDERA monitoring system & coordination and Management Responsible: ERDERA Coordination team Baseline: 94 beneficiaries in EJP
stakeholders workflow | Number of new stakeholder (by category) involved with & ERDERA monitoring task leaders. RD, and 152 beneficiaries + 19
ERDERA after launch | Number by category of stakeholders Assessment frequency: yearly associated partners in ERDERA.
Target: Y1: +10. Y2: +5. Y3:
+3. Y4-7: +1 every year.
2.2. Measures to maximise impact - Dissemination, exploitation, and communication #@COM-DIS-VIS-CDV@#
ERDERA builds on EJP RD’s legacy to continue making a difference in RD research in Europe and beyond. Extensive (inter)national multi-stakeholder
collaboration in communications and dissemination activities enabled by this large partnership will be key to advance ERDERA objectives and ensure effective
engagement with key audiences who will either: (i) use and/or benefit from ERDERA activities and research outcomes (mainly patient and RD research
communities at large); (ii) contribute to develop solutions for RD research (mainly funders; industry; healthcare providers; research infrastructures or other
RD research initiatives); (iii) intervene in shaping the RD ecosystem (mainly public decision makers at national and international level; regulators; other RD
consortia; Media or society at large). The Communication (C) and Dissemination (D) strategy will be developed and implemented by WP2, in concurrence
with all work streams, with a view to paving the way for future sustainability and successful exit strategy (WP1). It will strive to: (1) Raise awareness about
ERDERA with a focus on describing the important progress made to date, identify existing gaps in RD research and outline plans to address current and future
challenges. (2) Generate interest on ERDERA strategic and operational goals, expected outcomes and long-term impacts and continue building a global
community of interest around RD research. (3) Maximise promotion of funding calls and available RD research assets and services (data services;
accelerator hub; CRNs, training, mentoring), especially amongst underrepresented countries and/or underserved groups. Facilitate that outputs are not only
published and widely disseminated but ultimately adopted by the RD research community, starting with applicants and funded projects. (4) Inform about
progress and results achieved by ERDERA funded initiatives reinforcing the reputation of this European partnership as an enabler of far-reaching, trans-
national RD research. (5) Amplify patients’ voice throughout ERDERA communications and actively engage with the general public through awareness
campaigns. (6) Support engagement, networking and (inter)national capacity alignment activities to enable debate, mutual-understanding, alliance
building and knowledge exchange across the global RD ecosystem.
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The diverse expertise and long-term experience in the field of RD research brought together by ERDERA
will facilitate adequate understanding and access to the following key audiences:
RESEARCHERS as architects and leaders of ERDERA investigational projects, as well as users of its
resources and services and future adopters of results and standards generated within the Partnership. This
audience includes academia, clinical and industry researchers (Systems Biologists; Data scientists; Biobank
managers; Laboratory scientists & technicians; Clinical geneticists) and focuses on ERDERA funded
research, Research organisations, Learned societies, Professional associations (i.e., CGCOM; CENOM),
applicants to ERDERA funding calls or academic institutions and universities (medical & biomedical
students, lecturers, university managers; organizations of academic institutions (i.e., UEMS)).
PATIENTS, actively involved in the design of RD research as key drivers and ultimate beneficiaries. This
broad audience group comprises patients- organisations and patients and care givers and, specifically
ePAGs (RD patient representatives involved in ERNs) and YPAGs (Young Patient Advisory Groups).
FUNDERS as scouters and supporters of promising RD research projects ranging from philanthropic
organisations, (inter)national public funding bodies or venture capital.
INDUSTRY/PRIVATE SECTOR as developers, investors and adopters of RD solutions. This audience
involves researchers and innovation managers specialising in drug development, medical devices, ATMPs,
ICTs at large pharmaceutical companies, SMEs and Biotech. Associations such as EFPIA and EUCOPE
are key interlocutors.
RESEARCH INFRASTRUCTURES as experts in translating promising ERDERA funded research into
real solutions for patients. Represented by organisations such as ESFRI.
HEALTH CARE PROVIDERS as testers and potential adopters of solutions developed in the context of
ERDRA, especially those organised around the ERNs but also international organisations (EUHA),
Hospitals and Clinicians at large.
2.2.1 Communication and dissemination strategy
The overarching communication and dissemination strategy will be designed by WP2 (Task 2.1) by Month
6. It will build on EJPRD past experience and achievements and ensure alignment across the different work
streams so that all activities reflect consistently ERDERAs vision, objectives, roadmap and expected
impacts. The strategy will be implemented through Annual Work Plans developed in concurrence with
work stream leaders. Given the broadness and multi-disciplinarity nature of ERDERA, a communications
officer will coordinate and support T2.2. Likewise, a science writer will be appointed to facilitate
understanding of ERDERA’s ambition, progress, services, results and their potential impact across a
diversity of audiences. Editorial content curation will observe science communication best practices (i.e.,
avoid jargon, provide examples, summarise ideas, contextualise, start with key findings, etc).
Task 2.1. will follow a tested methodology to design a sound communication and dissemination strategy
which will be driven by clear objectives. Building on EJPRD reputation and results, objectives will
gradually steer from raising awareness and interest in ERDERA -vision, goals, work plan, funding calls,
existing and newly created resources and results and expected impacts- towards facilitating understanding,
acceptance, endorsement and, ultimately, adoption of the different solutions generated both by the
partnership and the research being funded by it. Critical to develop this strategy is to ensure in-depth
understanding of key audience group’s needs, motivations and attitudes. To this end, WP2 will map out
each audience with the collaboration of work streams with a view to start shaping a unique value
proposition and tailor operational communication objectives and main messages accordingly. By
performing this pre-emptive analysis, audiences will be properly segmented and analysed from a work
stream perspective to be addressed through the most appropriate channels, tools and activities. An outline
of the envisaged communication and dissemination activities can be found in this table:
Main target audience Objective Description of tools & activities
All Generate awareness & interest about Branding (logos, templates, etc). Website (general &
ERDERA objectives (SRIA), work sub-sites/platform). Newsletters (general &
Coordination
plan, major developments and expected segmented). Animated videos / Video interviews.
impacts. Slide deck (general & per work streams). Factsheets
Set up and manage general (general & per work streams). Podcast series (3
communication tools, channels and episodes per year feeding from all work streams).
resources. Infographics.
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Organisation or participation in conferences,
Funders, Regulators, stakeholder groups to align on RD seminars, workshops or focus groups. Develop
Patient organisations, policy research strategies, regulatory, editorial content to be shared through online
Researchers, Industry legal and ethical issues. Raise interest channels (website) summarising public discussions,
(EFPIA/ EUCOPE), and understanding around these topics. agreements, etc on current gaps in RD research, as
Healthcare providers, well as EU and national recommendations or key
Other (IRDiRC; ESFRI), priorities. Leverage multistakeholder. Advisory
Media board activities and strategy meetings. Production
and dissemination of white papers and policy
reports. Launch press releases.
Public decisions makers Create awareness around ERDERA Meetings with relevant authorities. Leverage
Public funding bodies annual progress (T1.3). dashboards to produce engaging visual summaries
All Support sustainability strategy to be shared through website, newsletter; social
media; podcast (1 episode per year focused on
progress). Marketing of ensuing legal entity, its
value propositions and resulting services and
resources. Launch press releases.
Patients, Researchers, All Strengthen patients’ voice. Participation in patient focused events. Publish
Support production of layman patient testimonials and case studies showcasing
materials. good patient engagement practices in RD research.
Layman resources developed in diverse formats
(articles, video interviews or infographics), made
available and promoted online.
Researchers (Academia- Promote funding calls, webinars for Coordinated campaign launched via ERDERA, EC
Universities; Clinical - candidates & public consultations. & partnering organisations’ online channels &
Research organisations), Inform of calls’ results. promoted through external events. Contact with key
Patients’ organisations, people from different institutions who can relate
Healthcare providers/ information. Flash newsletters. Press
Funding
ERNs, Industry, EC & announcements. Website news articles
other RD initiatives
All Publicise progress, achievements and Leverage T1.3.1.4 as a source of case studies to be
impact of research funded by WPs 3-5. featured on online channels & external events.
Enhance dissemination of scientific Amplify launch of scientific publications on social
outputs. media & website. Launch media pitch around
newsworthy achievements.
CRNs, Learned societies Support outreach and dissemination to Publicise peer-reviewed publications, reports, case
Professional, associations facilitate understanding, acceptance and studies, blueprints and other resources and tools to
CRNs
Researchers adoption of data systems and tools target audiences through website articles,
(WP6) and newly generated evidence infographics or animated videos. Presentation at
(WPs 7-12) events.
Joint Transnational Calls Increase awareness about data Publicise virtual platform and signpost accessible
& Clinical trials readiness, sharing and analysis services services and resources in a visual format
Data Services
applicants, CRNs / ERNs, and new resources onboarded to the (infographic), available through main website.
EFPIA/ EUCOPE, platform. Articles to be published on website and segmented
Healthcare providers, Disseminate new knowledge generated newsletter and shared on social media. New
ESFRI, Researchers, on genetic cause of diseases, etc to aid knowledge to be presented at key events (WODC,
Patients adoption of methods that increases the ESHG, ECRD).
usability of rare disease data.
Joint Transnational Calls Increase awareness about mentoring, Promote webinars and workshops and signpost
(JTC) & Clinical trials consultancy, and methodological guidance recommendations and tools (Innovation
(CT) applicants support services. Management Tool) to targeted audiences via website
Expertise Hub
CRNs or segmented newsletters, as well as presentations at
Researchers external events.
Patients’ representatives Dissemination of the Innovation Publicise new features of the IMT to different
Management Toolbox. Dissemination stakeholders via news posts, presentations, targeted
of the services provided by the communication and dissemination.
Regulatory Support Group. Promotion
of the Consultancy and Regulatory
expertise database.
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JTC & CT applicants, Raise awareness on existing and new Associated
Develop with
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infographic describing the ERDERA
EPAGs & YPAGs, training resources and educational training pathway, accessible through website.
ERNs, Researchers, activities Promotion of existing and new training resources and
Training
Patients, Academic activities, including courses, webinars, workshops
institutions, universities, and other events primarily, leveraging social media
Professional, platforms and e-mail updates and targeting (inter)
organisations, NMGs national organisations (NGOs, learned societies,
universities).
Regulators, ERNs, CRNs Amplify dissemination of processes, Promote reports, blueprints and publications through
Acceleration Hub
methods and results produced by WP21 online channels (website, newsletter, social media)
and off-line (presentations and webinars)
Funders Increase reputation of Acceleration Hub Produce video interviews, website articles, podcasts
Industry as an enabler of translational research or animated infographics to showcase most
Public decision makers and promote the innovation promising/advanced projects. Launch media pitches.
marketplace Promote matchmaking activities (webinars). Present
acceleration hub at key events.
Public decision makers at Raise the profile of NMGs and their Feature news stories on selected NMGs activities,
International Capacity
large (NMGs) relevance to ensure cross-fertilisation, achievements or good practices on website, podcast
IRDiRC knowledge transfer and alignment. series and segmented newsletter.
Empower NMGs to step up their Facilitate access to central communication materials
communications and resources. Provide guidance to NMGs on the
design of national communication plans.
Support IRDiRC communication Support the implementation of IRDiRC
strategy and highlight external alliances communications plan. Amplify dissemination of key
activities (state of the play; annual meeting; etc)
through ERDERA channels. Launch press releases.
Results and outcomes generated by the Partnership will provide policymakers and regulators with evidence-
based information to aid decision-making, thus contributing to harmonise and advance rare disease research
strategies at national and European level. It is expected that ERDERA will impact the establishment,
revision, or revitalization of national plans/strategies for rare diseases, the diagnostics approaches at EU
and national scale, the use and reuse of healthcare and research data, methodological innovation for data
use and biostatistical approaches to clinical studies in small populations that are aligned/contributing to the
New pharmaceutical Directive and Regulation. Critical to the successful implementation of this strategy
will be the support and active involvement of all ERDERA partners in communication and dissemination
activities and facilitating engagement with key stakeholders. To this end, as ambassadors of this
partnership, partners are considered an intrinsic audience. Likewise, reputable leading experts involved in
ERDERA will be crucial to enhance the visibility and credibility of the partnership’s outcomes. Finally, the
advisory bodies foreseen in ERDERA will ensure continuous multi-stakeholder dialogue and much needed
debate to continue shaping rare disease research strategy and paving the way for future sustainability.
2.2.2 Sustainability and IPR management & exploitation of results
ERDERA is set to have a major impact in the rare disease research ecosystem by delivering a unique combination of
services and activities. Its vision will be defined with the input from the consortium and its advisory and governing
bodies and will consider elements already defined in the Sustainability Report of the EJP RD. This will guide the
value proposition offered by each workstream and will evolve with the project. Data on progress of individual
workstreams and results collected by the Monitoring and Strategy tasks, and by the IPR group, will be analysed to
identify how and where value is created within ERDERA. This knowledge will serve to advice decision making
throughout ERDERA’s lifespan and inform any recommended reallocation of resources to improve success rates and
maximise impact. During the first three years the consortium will foster the exit strategy and make a business case
for the future legal entity. At the end of this period, a White Paper will be issued outlaying the proposal including a
relevant business model and a suitable legal setting (i.e., international non-profit association) that supports the
federated nature of the future institute. To this end, ERDERA will use learnings from existing research infrastructures
(such as eBrains and EUREKA models) and will map out all services and resources across three major domains –
infrastructure (Data, Expertise and Acceleration Hubs), clinical Research network and RD research funding
mechanisms. In this context, it will consider administrative and legal aspects to define incentives, governance and
financial (costs and revenue) frameworks of the future entity, ensuring its sustainability and growth within the RD
ecosystem. The White Paper will be accompanied by an Impact Report outlaying key achievements of ERDERA and
its predecessors, such as EJP RD, as well as demonstrating clear value (showcases) for public and private
organisations including funding organisations and companies.
[101156595] – [ERDERA] - Part B - Page 48 of 83
The exploitation of results will be supported by the managementAssociated with document Ref. Ares(2024)5602406 - 02/08/2024
of Intellectual Property (IP) which will aim to
facilitate collaboration among the Beneficiaries, Affiliated Partners and Associated Partners of ERDERA (named
ERDERA Partners in this section hereafter) by allowing them access to each other's Background and Results, under
pre-agreed conditions and without the need for further approvals or payment of royalties. This approach, that will be
described in the Consortium Agreement (CA), encourages sharing of knowledge and information among the
consortium members while ensuring that the intellectual property rights of the owning ERDERA Partners are
respected. For IP, the CA will address (1) the identification and ownership of Background, additional data, know-
how or information; (2) the management of the Results generated including their ownership, data contributed as in-
kind, transfer of ownership and granting of license, protection, commitment to exploitation, and their dissemination
and communication; (3) and the Access Rights for the implementation of ERDERA, the exploitation for research
use, direct exploitation, for new and departing ERDERA Partners and for Third Parties. The CA will specify the
rights of ERDERA Partners to access the Background and Results of each other, both during and after the completion
of ERDERA. The signature of the CA by the Beneficiaries will be considered as a valid written request and approval
for Access Rights, both for research use and for the exploitation. This implies that signing the agreement grants
Access Rights to the Background and Results of other ERDERA Partners as needed for the exploitation or for
research use of their own Results. The Access Rights for the purpose of research use of own Results or Results of
other ERDERA Partners are granted on a Royalty-Free basis. This means that the ERDERA Partners are not required
to pay any fees or royalties to the owning one for accessing their Background or Results for research purposes. Access
Rights are granted to the extent needed for exploitation or reasonably required for research use of own Results or
Results of other ERDERA Partners. This means that the access will not be unrestricted but is limited to what is
necessary or reasonable for the intended purpose. The scouting of IP aspects will be meticulously managed by a
dedicated Intellectual Property Rights (IPR) support group, composed of IPR experts from different ERDERA
Partners. A list of deliverables will be created for identifying and quantifying joint results, leading to an inventory of
exploitable Results that will be regularly updated. The IPR support group will facilitate portfolio assessment, ensuring
that exploitable Results are properly acknowledged for sustainability planning.
Summary
SPECIFIC NEEDS
High medical needs for PLWRD and significant costs for health care systems due to lack of available therapies and
delayed diagnosis (30 million people in Europe living with a RD. There is no therapeutic option for 95% of RDs. The average
time for diagnosing a known rare disease is > 4 years. About 50% of rare disease patients do not have a confirmed diagnosis).
Limited understanding of the real impact RDs has on patients, carers and society.
Need to integrate into RD research and scale up the opportunities presented by most recent advances on new ATMPs
technologies and data-driven computational tools, statistical and AI methods.
Scarcity, asymmetry and fragmentation of knowledge, skills and expertise in RD research.
Fragmentation of data ecosystem and limited interoperability preventing research from delivering data-driven solutions.
Limited synergies in policy and strategies in RD research within EU member states.
Lack of business model and incentives to translate research into diagnosis and treatment solutions.
EXPECTED RESULTS
Sustainable legal entity embodying a consolidated alliance amongst all actors (public/private) intervening in the RD value
chain (researchers, healthcare providers, regulators) which provides a state-of-the-art RD infrastructure for data and expertise,
clinical research services, funding support and knowledge sharing.
Joint EU RD research strategy framework & multistakeholder collaboration environment & alignment of national and
local RD research activities through NMGs.
Data Service Hub that ensures FAIRness of research and clinical data and enables this data to be exploited by linking health
and research data from national, EU or 3rd country sources.
Advanced data driven computational tools, statistical and AI methods.
Federated diagnostic pipeline based on shared standards, guidelines and practices implemented in most EU countries.
Sustainable CRN that brings together ERNs expertise and capacity with technological infrastructure, methodology and
regulatory support.
Comprehensive training pathway and educational resources widely available to researchers, clinicians and patients.
D & E & C MEASURES
Communication: General communication via website, infographics, videos, factsheets, recorded webinars, podcasts, etc.
Media outreach. Social media activity. Engagement activities with stakeholder groups (webinars, meetings, workshops).
Leverage case studies and testimonials as source of news stories.
Dissemination: Publication of results in scientific journals and Open Research Europe. Policy reports, blueprints, peer
reviewed publications, guidelines widely shared via ERDERA and partners’ communication channels and further
disseminated through participation in stakeholder meetings, conferences and other events. Dedicated promotion campaigns to
increase awareness of specific results.
Exploitation: Business case for a sustainable RD research infrastructure outlined in a white paper, accompanied by an Impact
report on ERDERA achievements. Engagement with public and private organisations as users and beneficiaries or potential
[101156595] – [ERDERA] - Part B - Page 49 of 83
funders/investors of RD research to refine business case, accompaniedAssociated with document Ref. Ares(2024)5602406 - 02/08/2024
by open discussion with decision makers at the EU
and national level.
TARGET GROUPS
RESEARCHERS: ERDERA funded initiatives; Academia, clinical and industry researchers; Research organisations;
Learned societies; Professional associations (i.e., CGCOM; CENOM); applicants to ERDERA funding calls; Universities;
Academic institutions org. (UEMS)
PATIENTS: Patient organisations; PLWRD & carers; ePAGs & YPAGs
PUBLIC DECISION MAKERS: National Mirror Groups (NMGs); Ministries of Health & Research; EC; Relevant EU
directorates (DG RTD, Santé, Connect); (Funding) Program directors and managers; European & National legislators focused
on health & research;
OTHER CONSORTIA & ASSOC: IRDiRC; ESFRI; Other initiatives (RD Moonshot; Together4RDs)
REGULATORS & HTAs
FUNDERS: Philanthropic organisations; (Inter)national public funding bodies; Venture capital
INDUSTRY/PRIVATE SECTOR: Large pharmaceutical companies; SMEs / Biotech, medical devices, ATMPs; ICTs;
EFPIA; EUCOPE
RESEARCH INFRASTRUCTURES: ESFRI & others
HEALTH CARE PROVIDERS: European Reference Networks (ERNs); (EUHA); Hospitals/Clinicians
GENERAL PUBLIC & MEDIA
OUTCOMES
• Strengthened and integrated research and innovation ecosystem, involving PLWRD as co-creators, that delivers cost-
effective diagnosis and treatments.
• Aligned research funding leads to optimised generation and translation of knowledge into health products and
interventions and fosters the approach of public early-stage investment, followed by later-stage investment from private
sector and philanthropy.
• Comprehensive and standardised knowledge framework in place that integrates EU, national and regional data and
information infrastructures to improve translational research.
• Better identification pathways of consenting patients in Europe allow both better understating of the disease and its
impacts and patients’ timely enrolment in clinical studies and inclusion in diagnosis and research pipeline.
• Central access point to RD research supporting services attracts high quality research projects who benefit from cross-
disciplinary expertise, tools and resources.
• Coordinated and efficient multi-stakeholder collaboration encompassing public and private actors at European, national
and regional level.
• New generation of clinicians, researchers and patients trained in RD research which allows the upscale of expertise
and the empowerment of PLWRD.
• Aligned EU, (inter)national and regional research strategies enables optimization of resources and scalability of results
IMPACTS
• EU reinforced as a global leader of research and innovation in rare diseases which leads to job creation and increases EU
competitiveness in R&I and enhances its attractiveness for companies.
• In-depth understanding of RD impact on patients, families and health systems informs research and care and translates
into more meaningful societal support.
• Integrated European RD research ecosystem delivers more cost-effective diagnosis and treatments, contributing to the
sustainability of health systems.
• Better prevention, diagnosis and treatment of RDs brings tangible health benefits and improved wellbeing to > 30M
patients in Europe. Long-term contribution to the fulfilment of SDG regarding RDs by delivering “1.000 new therapies
for RD approved in Europe”.
• Outcome-oriented public & private investment strategies and programmes, better contribute to address the needs of
PLWRD.
• Integrated multi-national and multi-stakeholder R&I ecosystem for RDs contributes to reduce inequalities across Europe
in timely access to innovative, sustainable and high-quality healthcare for PLWRD.
• Increased understanding on impact of RD and research across society, added to open science practices, strengthens citizens
engagement and trust in science.
#§IMP-ACT-IA§#
[101156595] – [ERDERA] - Part B - Page 50 of 83
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
3. Quality and efficiency of the implementation #@QUA-LIT-QL@# #@WRK-PLA-WP@#
3.1. Work plan and resources
Figure 2. ERDERA Gantt chat (zoom for details – high resolution picture)
The overall work plan of ERDERA is organised in 3 main phases: 3+4+3 years. The first two phases - 3
years + 4 years are aligned with the provision of instalments and foreseen two Grant Agreements. The last
3 years are part of the phasing out strategy and will cover only the finalisation of funded projects and
clinical trials that were granted in the last JTCs and CT call. This proposal encompasses thus the description
of the overall work foreseen for 7 +3 years but specific attention is given to underline the outputs expected
after the first 3 years of the project. Similarly, the detailed budgets per partner and activity described in the
[101156595] – [ERDERA] - Part B - Page 51 of 83
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
proposal encompass only the first 3 years as they correspond to the first grant instalment. The proposal, the
Annual Work Plan of year 1, and the SRIA are complementary and therefore cross-referenced.
Figure 3. ERDERA PERT chart (zoom for details – high resolution picture)
Figure 4. Directional Chord diagram displaying Work Packages Synergies and Integration based on
number of cross work package milestones and activities description. Interactive chart available on:
https://public.flourish.studio/visualisation/17031173/
[101156595] – [ERDERA] - Part B - Page 52 of 83
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Tables for section 3.1
Table 3.1a: List of work packages (included in Part A)
Table 3.1b: Work package description (included in Part A)
Table 3.1c: List of Deliverables (included in Part A)
Table 3.1d: List of milestones (included in Part A)
Table 3.1e: Critical risks for implementation #@RSK-MGT-RM@# (included in Part A)
#§RSK-MGT-RM§#
Table 3.1f: Summary of staff effort (WP Leaders in bold) (included in Part A)
Table 3.1g: ‘Subcontracting costs’ items
1/INSERM
Cost (€) Description of tasks and justification
Contribution to Task 1.5: Ethics advisor (42 857€);
Subcontracting 117 857
Contribution to Task 1.4: IPR support (75 000€);
22/EATRIS
Cost (€) Description of tasks and justification
Contribution to Task 22.3: Licensing expert for 5 projects (15
Subcontracting 25 000
000€); IP expert for 5 projects (10 000€);
Table 3.1h: ‘Purchase costs’ items of participants whose purchase costs exceed 15% of the personnel
costs
Please complete the table below for each participant if the purchase costs (i.e. the sum of the costs for
’travel and subsistence’, ‘equipment’, and ‘other goods, works and services’) exceeds 15% of the personnel
costs for that participant (according to the budget table in proposal part A). The record must list cost items
in order of costs and starting with the largest cost item, up to the level that the remaining costs are below
15% of personnel costs.
1/INSERM Cost (€) Justification
WP1: Future MAB thematic groups (176 700€)
WP3: Central budget: costs related to the organisation of the scientific
evaluation committees (2/year x 2 calls-JTCs2025/2026) (160 000€)
Other goods, works and
1 371 700 WP8: Central budget: Use case incentives for underrepresented countries
services
(475 000€)
WP11: ART-ARNm - consumables and models for PoC studies (T3) (500
000€)
Remaining purchase costs
698 867
(<15% of pers. Costs)
TOTAL 2 070 567
2/TEAMIT Cost (€) Justification
WP2: Communication goods and services Task 2.3. All the communication
Other goods, works and materials and tools such as videos, infographics, animated infographics,
368 700
services design, website back-end programming and maintenance, podcast,
outsourcing engagement events (368 700€)
Remaining purchase costs
7 000
(<15% of pers. Costs)
TOTAL 375 700
3/DLR Cost (€) Justification
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Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Other goods, works and WP3: Task 3.2.2. 2 costs related to the organisation of the scientific
80 000
services evaluation committees JTC2025 (40K€ per meeting) (80 000€)
Remaining purchase costs
24 988
(<15% of pers. Costs)
TOTAL 104 988
4/ANR Cost (€) Justification
Other goods, works and WP3: Reimbursement of ethics experts (3 experts per proposal, 100 € per
6 428
services review, 21 proposals) (6428€)
Remaining purchase costs
16 340
(<15% of pers. Costs)
TOTAL 22 768
5/FTELE Cost (€) Justification
Other goods, works and WP4: Task 4.2 costs related to the organisation of the scientific evaluation
80 000
services committees of the 1st clinical trial call (80 000€)
Remaining purchase costs
24 150
(<15% of pers. Costs)
TOTAL 104 150
6/LMT Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 9 660
8/UT Cost (€) Justification
Other goods, works and
175 000 WP12: Task 12.5 Case study 1 (175 000€)
services
Remaining purchase costs
181 113
(<15% of pers. Costs)
TOTAL 356 113
13/UKHD Cost (€) Justification
WP9: Cohort data provision - T3 (100 000€)
Other goods, works and
413 333 WP10: RS - Longitudinal validation studies PROM (T1) (138 333€)
services
WP12: Task 12.5 Case study 2 (175 000€)
Remaining purchase costs
258 286
(<15% of pers. Costs)
TOTAL 671 619
15/VHIR Cost (€) Justification
WP10: T1 Longitudinal validation studies PROM (138 333€); mHealth
Other goods, works and
274 333 adaptation or new creation (100 000€); Meetings (T1) - 2 meetings per use
services
case (36 000€)
Remaining purchase costs
99 286
(<15% of pers. Costs)
TOTAL 373 619
16/LUMC Cost (€) Justification
WP12: Treatment / study design meetings (task 12.2/3)- 2meeting
Travel and subsistence 40 000
(40000€)
Other goods, works and
30 000 WP12: Consumables toxicity technician (30000€)
services
Remaining purchase costs
105 560
(<15% of pers. Costs)
TOTAL 175 560
22/EATRIS Cost (€) Justification
[101156595] – [ERDERA] - Part B - Page 54 of 83
WP18: MeetingAssociated with document Ref. Ares(2024)5602406 - 02/08/2024
of RDP Regulatory Support Group (including NCA
Travel and subsistence 29 600 members + EMA representatives) - 2 face to face meetings (M12, M36)
(29 600€)
WP18 IT and web design support for upgrading of the Regulatory
Other goods, works and Information System (40 000€)
140 000
services WP22: Nonclinical validation steps for selected projects (2 projects @50k
each) (100 000€)
Remaining purchase costs
58 793
(<15% of pers. Costs)
TOTAL 228 393
24/APHP Cost (€) Justification
Other goods, works and
138 333 WP10: T1 Longitudinal validation studies PROM (138 333€)
services
Remaining purchase costs
121 000
(<15% of pers. Costs)
TOTAL 259 333
26/EURORDIS Cost (€) Justification
WP20: Task 20.1: T&S for 25 trainers + 70 trainees + 12 travel fellowships
Travel and subsistence 269 100
/ year (269 100€)
Other goods, works and WP20: Task 20.1.1: Catering + room for 100 people, 3-4 day meeting/year
103 800
services (103 800€)
Remaining purchase costs
47 000
(<15% of pers. Costs)
TOTAL 419 900
27/VULSK Cost (€) Justification
WP24.1 - Knowledges exchanges - 4 meetings Y1 +Y2 (40 persons* 2
Travel and subsistence 30 000
meetings) (30000€);
Remaining purchase costs
49 720
(<15% of pers. Costs)
TOTAL 79 720
28/UC Cost (€) Justification
WP21: Consumables/reagents/rodent models for T21.1(20 333€); T21.2.1
Other goods, works and (13 000€); T21.2.4 (80 000€); T21.3.1, T21.3.3, T21.3.4 (30 000€);
227 286
services T21.4.2 (30 000€); in vivo work in SCA3 mouse model (15 000€); T21.4.1
(6 000€); T21.5.2 (32 953€) (227 286€)
Remaining purchase costs
7 000
(<15% of pers. Costs)
TOTAL 234 286
29/FFRD Cost (€) Justification
Other goods, works and WP25: IRDiRC - One in person CA-SC meeting per year (75K*3) (225
285 000
services 000€); Task Force workshop (20k€/year) (60 000€)
Remaining purchase costs
117 050
(<15% of pers. Costs)
TOTAL 402 050
31/CCUH Cost (€) Justification
WP23 - Travel costs/accommodation costs for the Annual workshop from
Travel and subsistence 11 100
Y1 to Y3 topic experts - 5 pax per workshop (11100€) Central budget;
WP23 - Catering costs for the Annual 3.2 workshop from Y1 to Y3 (2days
Other goods, works and
35064 event) 64pax (2pax per NMG = 56pax + 3pax WP7 coordination) + 5pax
services
topic experts (35064€) Central budget;
Remaining purchase costs
16 320
(<15% of pers. Costs)
[101156595] – [ERDERA] - Part B - Page 55 of 83
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
TOTAL 62 484
34/RDI Cost (€) Justification
Other goods, works and
50 000 WP25: Organisation of the CRN Conference Yr 2 (50 000€);
services
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 53 000
35/ACU Cost (€) Justification
WP1: travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
Travel and subsistence 3 000
(3000€)
TOTAL 3 000
39/ASU-FC Cost (€) Justification
WP1: travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
Travel and subsistence 3000
(3000€)
Remaining purchase costs
33 680
(<15% of pers. Costs)
TOTAL 36 680
40/BIU Cost (€) Justification
WP1:Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
Travel and subsistence 3 000
(3 000€)
Other goods, works and WP21: Evaluation of off-target effects ex vivo (GUIDE-Seq, rhAmpSeq)
57 857
services (T21.4.3)
TOTAL 60 857
41/BMBF Cost (€) Justification
WP1:Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
Travel and subsistence 3 000
(3 000€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
TOTAL 7 000
44/CHARITE Cost (€) Justification
WP21: Consumables for T21.2.1, T21.2.2, T21.2.4 (40 656€);
Other goods, works and
104 656 Consumables for T21.3 (10 000€); Consumables for T21.5.1, T21.5.2 and
services
T21.5.4 (54 000€);
Remaining purchase costs
20 829
(<15% of pers. Costs)
TOTAL 125 485
45/CHI Cost (€) Justification
WP21: Consumables for: 3,000€ for multiligand assays and 47,571€ for
Other goods, works and multiomics single cell analyses (T.21.5.1), 10,000€ for analysis of
80 571
services humanized NSG mice exposed to tools T21.1-T21.4 (T.21.5.2), 20,000€
qualification of single cell platform (T.21.5.3) (80571€);
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 83 571
52/ELS Cost (€) Justification
WP1:Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
Travel and subsistence 3 000
(3 000€)
Other goods, works and
333 960 WP1.3: Elsevier Licence (333 960€)
services
TOTAL 336 960
53/Erasmus MC Cost (€) Justification
Other goods, works and WP10.2 WP10.3: T1 Longitudinal validation studies PROM (138 333€);
174 333
services Meetings (T1) - 2 meetings per use case (36 000€)
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Associated with document Ref. Ares(2024)5602406 - 02/08/2024
Remaining purchase costs
40 000
(<15% of pers. Costs)
TOTAL 214 333
54/F.R.S.-FNRS Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 9 660
55/FHG Cost (€) Justification
WP21: Consumables/reagents for analytics (T21.1.1, T21.1.2) (50 428€);
Other goods, works and
116 428 for T21.2.3 (50,000€) and T21.2.5 (12 000€) (62 000€) and for T21.3 (4
services
000€)
Remaining purchase costs
23 159
(<15% of pers. Costs)
TOTAL 139 587
56/FRRB Cost (€) Justification
WP1 : JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
TOTAL 13 660
57/ECRIN Cost (€) Justification
WP20.3.4: travels and accommodation for 8 trainers/staff for 2-3 days
Travel and subsistence 8 600
/year + 2 fellowships/year (8600€);
Other goods, works and
3 180 WP20.3.4. Catering costs: 30 people, 2 to 3-day meeting / year (3180€);
services
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 14 780
58/FWF Cost (€) Justification
WP1 : Travel to 3 consortium meetings (1 pax per partner/1000€ per
travel) (3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 13 660
59/ IFD Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
Remaining purchase costs
740
(<15% of pers. Costs)
TOTAL 12 180
61/FCT Cost (€) Justification
[101156595] – [ERDERA] - Part B - Page 57 of 83
Associated with document Ref. Ares(2024)5602406 - 02/08/2024
WP1 : JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
TOTAL 9 660
62/MZd Cost (€) Justification
Other goods, works and
4 000 Audit costs (4000€)
services
TOTAL 4 000
62.1 AZV Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Remaining purchase costs
740
(<15% of pers. Costs)
TOTAL 8 180
63/GNT Cost (€) Justification
WP21: 65,214€ for consumables and reagents for viral vector production
and characterization (T21.1.1) and for QC testing (T21.1.2); 34,000€ for in
Other goods, works and vitro editing of DMD myoblasts (Cas 9, base editors, molecular biology)
99 214
services (T21.4.1) and for in vivo editing in DMD mouse model, plus analysis of
off target effect in vivo (AAV Cas9 and base editing, molecular biology
and histology) (T21.4.2)
Remaining purchase costs
18 000
(<15% of pers. Costs)
TOTAL 117 214
67/HRB Cost (€) Justification
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
Travel and subsistence 4 440
(500 Travel+240 Hotel 2 nights) (4440€)
Remaining purchase costs
18 100
(<15% of pers. Costs)
TOTAL 22 540
69/Rannis Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 9 660
70/IMAGINE Cost (€) Justification
WP21: Consumables - Molecular and cellular biology reagents (including
Other goods, works and DNA/RNA synthesis, antibodies, Tissue culture supplies and transfection
40 714
services reagents), mouse experiments and laboratory disposables (T21.4.1 and
T21.4.2) (40714€);
Remaining purchase costs
20 093
(<15% of pers. Costs)
TOTAL 60 807
73/INSA Cost (€) Justification
WP23: Travel costs/accomodation costs for the Annual workshop from Y1
Travel and subsistence 4 440
to Y7 - 2 pax per workshop - NMG Portugal (4440€)
Remaining purchase costs
7 440
(<15% of pers. Costs)
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TOTAL 11 880
74/IOR Cost (€) Justification
WP1:Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
Travel and subsistence 3 000
(3 000€)
Other goods, works and
3 500 WP25: ERN meeting Year 3 (3500€)
services
TOTAL 6 500
75/ISS Cost (€) Justification
WP20.3.5: travels and accommodation for 8 trainers/staff for 2-3 days
/year + 2 fellowships/year (25800€);
Travel and subsistence 34 400
WP14: 1xBYOD hackathon (travel/accommodation of 10 participants)
(8600€);
Other goods, works and WP20: task 20.3.5. Catering costs: 30 people, 2 to 3-day meeting / year
9 540
services (9540€);
Remaining purchase costs
9 260
(<15% of pers. Costs)
TOTAL 53 200
76/IT-MOH Cost (€) Justification
WP1 : JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
TOTAL 13 660
77/KU Leuven Cost (€) Justification
Other goods, works and WP21: consumables (so reagents, materials and plastics) associated to
83 978
services T21.1 (83978€);
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 86 978
78/LZP Cost (€) Justification
WP1 : JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
TOTAL 9 660
82/MUR Cost (€) Justification
WP1 : JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
TOTAL 13 660
83/NCBR Cost (€) Justification
WP1 : JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
TOTAL 13 660
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85/MoH SR Cost (€) Justification
WP1: travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
Travel and subsistence 3 000
(3000€)
Remaining purchase costs
8 880
(<15% of pers. Costs)
TOTAL 11 880
86/RDG Cost (€) Justification
WP23: Travel costs/accomodation costs for the Annual general meeting
Travel and subsistence 4 440
from Y1 to Y3 2 pax per meeting - NMG (4440€)
Remaining purchase costs
7 440
(<15% of pers. Costs)
TOTAL 11 880
89/OSR Cost (€) Justification
WP21: Mouse experiments and laboratory disposable (T.21.4.2) (158
314€); 50,000€ for consumables: Molecular and cellular biology reagents
(including DNA/RNA synthesis, antibodies, Tissue culture supplies and
Other goods, works and transfection reagents) (T21.4.1); 30,000€ for mouse experiments, in vivo
311 314
services GE barcoding, LiBiSseq and SLIM PCR (T21.4.3); 73,000€ for
consumables for multiparameter flow cytometry, generation of Ag-specific
cell lines (T.21.5.1), Generation of specific Treg and PoC specific Treg in
vitro and in vivo (humanized mice) (T21.5.4)"
Remaining purchase costs
7 000
(<15% of pers. Costs)
TOTAL 318 314
90/JSI Cost (€) Justification
WP23: Travel costs/accomodation costs for the Annual general meeting
from Y1 to Y3 2 pax per meeting - NMG (4440€) ; Travel
Travel and subsistence 8 880
costs/accomodation costs for the Annual workshop from Y1 to Y7 - 2 pax
per workshop - NMG (4440€)
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 11 880
91/RCN Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 13 660
92/FWO Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 13 660
93/REUH Cost (€) Justification
WP24.1 - Knowledges exchanges - 4 meetings Y1 +Y2 (40 persons* 2
Travel and subsistence 30 000
meetings) (30000€);
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Remaining purchase costs
4 660
(<15% of pers. Costs)
TOTAL 34 660
94/RIF Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 13 660
98/SPW Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 13 660
100/ETAg Cost (€) Justification
WP1: JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
TOTAL 9 660
101/SAS Cost (€) Justification
WP1: JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
TOTAL 9 660
103/MOSAE Cost (€) Justification
WP1: JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
TOTAL 9 660
104/SRC Cost (€) Justification
WP1: JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
TOTAL 13 660
105/TEDDY Cost (€) Justification
WP20: task 20.1.2: travels and accommodation for 10 trainers and staff /
Travel and subsistence 15 440 year + 3 travel fellowships per year (1 edition) (11180€);: catering costs for
20 people for 2 day-meeting (1 edition) (4260€);
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Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 18 440
107/TIF Cost (€) Justification
WP23: Travel costs/accomodation costs for the Annual workshop from Y1
to Y3 - 2 pax per workshop - NMG Cyprus (4440€) ; Travel
Travel and subsistence 8 880
costs/accomodation costs for the Annual general meeting from Y1 to Y3 2
pax per meeting - NMG Cyprus (4440€)
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 11 880
108/TUBITAK Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 13 660
109/RT (TuscReg) Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 9 660
110/UAB Cost (€) Justification
WP21: Plastic ware and reagents for viral vector production and
Other goods, works and
19 286 characterization (T21.1.1), Taqman qPCR reagents to quantify the vector
services
yield in each production. Consumables for analytics (T21.1.2) (19286€);
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 22 286
112/UCSC Cost (€) Justification
Travel and subsistence 7 500 WP20: Task 20.4 - Accommodation & Travel costs for 5 fellows (7500€);
Other goods, works and
9 000 WP20: Task 20.4. classrooms and wrap meeting costs (9000€);
services
Remaining purchase costs
10 400
(<15% of pers. Costs)
TOTAL 26 900
113/UEF Cost (€) Justification
WP21: 6,000€ consumables (T21.2.1), 30,000€ consumables (T21.2.2),
Other goods, works and
52 800 15,000€ consumables for in vitro and in vivo (T21.2.4); 1,800€
services
consumables for T21.3 (52800€);
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 55 800
115/UKLFR Cost (€) Justification
Other goods, works and WP21: 48,571€ Evaluation of off-target effects in vivo (CAST-Seq,
48 571
services rhAmpSeq, long-read seq) (T21.4.3)
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Remaining purchase costs
26 000
(<15% of pers. Costs)
TOTAL 74 571
122/c4c-S Cost (€) Justification
WP20: task 20.1.2: travels and accommodation for 10 trainers and staff /
Travel and subsistence 11 180
year + 3 travel fellowships per year (1 edition) (11180€);
Remaining purchase costs
7 260
(<15% of pers. Costs)
TOTAL 18 440
124/CNRS Cost (€) Justification
WP21: For consumables for understanding of current LNPs/EVs/NPs in
Other goods, works and T.21.3.1, evaluation of efficacy T.21.3.3, AI tools development (T.21.3.2),
37 714
services demonstration of scalability in T.21.3.4, and regulatory challenges with EV
and biohybrids encapsulating mRNA (T21.3.6) (37714€);
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 40 714
125/CIBER Cost (€) Justification
WP21: 37,969€ consumables for targeting to hematopoietic stem cells,
PBMC subsets, CNS and liver (T21.3.1), and in vitro and in vivo
evaluation of efficacy, immunogenicity and safety of mRNA formulations
Other goods, works and
81 969 (T21.3.3); 44,000€: 20,000€ for mouse experiments and laboratory
services
disposables (T21.4.2), 24,000 for consumables: Molecular and cellular
biology reagents (including DNA/RNA synthesis, antibodies, Tissue
culture supplies and transfection reagents) (T21.4.1)
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 84 969
126/UEFISCDI Cost (€) Justification
WP1 : JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Other goods, works and
4 000 WP1: Audit Costs (4000€)
services
TOTAL 13 660
129/BNSF Cost (€) Justification
WP1: JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
TOTAL 9 660
136.1/KUM Cost (€) Justification
WP10: T1 Longitudinal validation studies PROM (138 333€); Meetings
Other goods, works and
204 333 organisation (T1) - 2 meetings per use case (36 000€); other goods and
services
services T1 PAO reimbursement (10.000€ per year per use case) (30 000€)
Remaining purchase costs
34 500
(<15% of pers. Costs)
TOTAL 238 833
138/FNR Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
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Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 9 660
139/NKFIH Cost (€) Justification
WP1: JTC CSC travel to monitoring meetings (3 meetings x740€)
(2220€); Travel to 3 consortium meetings (1 pax per partner/1000€ per
Travel and subsistence 9 660 travel) (3000€)
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
TOTAL 9 660
140/PEI Cost (€) Justification
WP21: Consumables for setting up and validating quality assays on AAV
Other goods, works and
37 705 vector stocks (Task 21.1), Consumables for T21.2, Consumables for T21.3
services
(37 705) ;
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 40 705
141/PLUS Cost (€) Justification
Other goods, works and
52 000 WP21: For understanding of current LNPs/EVs/NPs in T21.3.1 (52000€)
services
Remaining purchase costs
5 250
(<15% of pers. Costs)
TOTAL 57 250
142/SU Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
Travel and subsistence 3 000
(3000€)
TOTAL 3 000
144/Vinnova Cost (€) Justification
WP1: Travel to 3 consortium meetings (1 pax per partner/1000€ per travel)
(3000€)
Travel and subsistence 7 440
WP3: Travel costs to 6 evaluation meetings at average budget of 740 €
(500 Travel+240 Hotel 2 nights) (4440€)
Remaining purchase costs
2 220
(<15% of pers. Costs)
TOTAL 9 660
149/UO Cost (€) Justification
WP23 Travel costs/accommodation costs for the Annual general meeting
from Y1 to Y3 2 pax per meeting - NMG (4440€) ; Travel
Travel and subsistence 8 880
costs/accommodation costs for the Annual workshop from Y1 to Y7 - 2
pax per workshop - NMG (4440€)
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 11 880
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Table 3.1i: ‘Other costs categories’ items (e.g. internally invoiced goods and services)
1/INSERM
Cost (€) Justification
WP21: 1,000€ for Cas9 immunogenicity in rodent models
Internally invoiced goods
10 286 (T21.5.4) 9,286€ for Rodent models to mimic adaptive immune
and services
response (T21.5.2)
70/IMAGINE
Cost (€) Justification
WP21: Use of the Imagine core facilities (i.e., genomics,
Internally invoiced goods
4 286 bioinformatics, flow cytometry and mouse facilities) (T21.4.1 &
and services
T21.4.2)
4/ANR
Cost (€) Justification
Financial support to third
12 857 143 € 3 JTCs (12 857 143€)
parties
5/FTELE
Cost (€) Justification
Financial support to third
3 000 000 € 3 JTCs (3 000 000€)
parties
6/LMT
Cost (€) Justification
Financial support to third
428 571 € 3 JTCs (428 571€)
parties
7/ZonMw
Cost (€) Justification
Financial support to third 2 JTCs (3 600 000€) funding of PAO (500 000€ per call)
5 400 000 €
parties Networking Support Scheme (800 000€)
29/FFRD
Cost (€) Justification
Financial support to third
300 000 € 3 JTCs (300 000€)
parties
41/BMBF
Cost (€) Justification
Financial support to third
9 000 000 € 3 JTCs (3 000 000€ per call)
parties
49/CSO-MOH
Cost (€) Justification
Financial support to third
960 000 € 3 JTCs (320 000€ per call)
parties
54/F.R.S.-FNRS
Cost (€) Justification
Financial support to third
900 000 € 3 JTCs (300 000€ per call)
parties
56/FRRB
Cost (€) Justification
Financial support to third
4 500 000 € 3 JTCs (4 500 000€)
parties
58/FWF
Cost (€) Justification
Financial support to third
2 700 000 € 3 JTCs (900 000€ per call )
parties
59/IFD
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Cost (€) Justification
Financial support to third
3 000 000 € 3 JTCs (1 000 000€ per call)
parties
61/FCT
Cost (€) Justification
Financial support to third
1 050 000 € 3 JTCs (1 050 000€)
parties
62/MZd
Cost (€) Justification
Financial support to third
1 500 000 3 JTCs (1 500 000€)
parties
67/HRB
Cost (€) Justification
Financial support to third
1 500 000 € 3 JTCs (1 500 000€)
parties
69/Rannis
Cost (€) Justification
Financial support to third
428 571 € 3 JTCs (428 571€)
parties
72/ISCIII
Cost (€) Justification
Financial support to third
4 800 000 € 3 JTCs (4 800 000€)
parties
76/IT/MOH
Cost (€) Justification
Financial support to third
3 000 000 € 3 JTCs (3 000 000€)
parties
78/LZP
Cost (€) Justification
Financial support to third
300 000 € 3 JTCs (300 000€)
parties
82/MUR
Cost (€) Justification
Financial support to third
3 000 000 € 3 JTCs (3 000 000€)
parties
83/NCBR
Cost (€) Justification
Financial support to third
3 600 000 € 3 JTCs (1 200 000€ per call)
parties
91/RCN
Cost (€) Justification
Financial support to third
1 542 857 € 3 JTCs (1 542 857€)
parties
92/FWO
Cost (€) Justification
Financial support to third
2 100 000 € 3 JTCs (700 000€ per call)
parties
94/RIF
Cost (€) Justification
Financial support to third
3 000 000 € JTCs (3 000 000€)
parties
98/SPW
Cost (€) Justification
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Financial support to third
3 000 000 € 3 JTCs (1Mio€ per call)
parties
100/ETAg
Cost (€) Justification
Financial support to third
150 000 € 1 JTC (150 000€)
parties
101/SAS
Cost (€) Justification
Financial support to third
120 000 € 1 JTC (120 000€)
parties
103/MOSAE
Cost (€) Justification
Financial support to third
150 000 € 1 JTC (150 000€)
parties
104/SRC
Cost (€) Justification
Financial support to third
1 457 143 € 3 JTCs (1 457 143€)
parties
108/TUBITAK
Cost (€) Justification
Financial support to third
1 500 000 € 3 JTCs (500 000€ per call)
parties
109/RT (TuscReg)
Cost (€) Justification
Financial support to third
900 000 € 3 JTCs (900 000€)
parties
126/UEFISCDI
Cost (€) Justification
Financial support to third
3 000 000 € 3 JTCs (3 000 000€)
parties
129/BNSF
Cost (€) Justification
Financial support to third
225 000 € 3 JTCs (225 000€)
parties
138/FNR
Cost (€) Justification
Financial support to third
990 000 € 3 JTCs (330 000€ per call )
parties
139/NKFIH
Cost (€) Justification
Financial support to third
900 000 € 3 JTCs (300 000€ per call)
parties
144/Vinnova
Cost (€) Justification
Financial support to third
1 414 286 € 3 JTCs (1414286€)
parties
152/CIHR*
Cost (€) Justification
Financial support to third 3 JTCs ($1 050 000 per call) -Ass. Part. not receiving EC
2 808 000€
parties funding
153/DFG*
Cost (€) Justification
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Financial support to third
5 400 000€ 3 JTCs (1 800 000€)-Ass. Part. not receiving EC funding
parties
155/FRQS*
Cost (€) Justification
Financial support to third
350 000€ 1JTC (350 000€)-Ass. Part. not receiving EC funding
parties
165/SNSF*
Cost (€) Justification
Financial support to third
2 000 000€ 2 JTCs (2 000 000€)-Ass. Part. not receiving EC funding
parties
Table 3.1j: ‘In-kind contributions’ provided by third parties
89 - OSR
Third party name Category Cost (€) Justification
Università Vita-Salute San Seconded
46 137€ Art 9.2 eligible in kind for free: WP21
Raffaele (UniSR) personnel
37-AMU
Third party name Category Cost (€) Justification
The partner Aix-Marseille Université (AMU) will
receive the support of Protisvalor Mediterranée SAS
(PVM). Protisvalor Mediterranée SAS (PVM), a spin-
off company created by AMU to handle the financial
and administrative aspects of AMU's projects.
Protisvalor will act as In-kind contributors against
payments of AMU. PVM is linked to AMU through a
Framework Agreement validated by the French
Ministry of Research and Higher Education (MESR),
giving the right for PVM to administer. In H2020,
Protisvalor Mediterranée SAS PVM was involved in 116 projects whereas in HEUR
Personnel 0.00€
(PVM) PVM is involved until now in 53 projects.
Consequently, PROTISVALOR will manage the
administrative and financial aspects on behalf of AMU
in the ERDERA project. The department will handle
some means and expenses necessary for the fulfillment
of the objectives of the project, e.g., purchasing
necessary consumables and/or equipment; handling
dissemination and publication costs; and any other
necessary project expenses. All expenses incurred by
PVM will be recorded in its own accounts and reported
in the AMU financial report.
#§QUA-LIT-QL§# #§WRK-PLA-WP§#
3.2. Capacity of participants and consortium as a whole #@CON-SOR-CS@# #@PRJ-MGT-PM@#
The details on how ERDERA’s consortium will tackle project’s objectives, contribute to societal impacts,
encompass meaningful collaborations with MS/ACs and expand to other networks and initiatives, are
described in detail in the proposal sections 1 (Excellence) and 2 (Impact). However, it is important to
underline that ERDERA brings together a broad consortium of key actors and stakeholders
representing the whole rare diseases ecosystem and thus guaranteeing integrity of the pipeline. The
Alliance is composed of 171 organisations (152 Beneficiaries and 19 Associated Partners) from 26
European countries (AT, BE, BG, CY, CZ, DE, DK, EE, ES, FI, FR, GR, HU, IE, IT, LV, LT, LU, NL,
PL, PT, RO, RS, SE, SK, SI), 7 associated countries (GE, IS, IL, MA, NO,TR, UK) and 3 non-EU country
(AU, CA, CH) bringing together complementary knowledge, infrastructures and expertise necessary to
fulfil the set aims. 38 funders, 115 research performing organisations, 12 patient organisations, 3 research
infrastructures and 27 private for-profit organisations (industry & SMEs) are part of the consortium. Even
though many of ERDERA’s partners have participated in the EJP RD programme, the consortium
[101156595] – [ERDERA] - Part B - Page 68 of 83
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importantly expands towards a more complete representation of the RD ecosystem by including industry
members (6 large pharmaceutical companies, as Associated Partners), more patient organisations (12) to
better capture the voice of patients and target underserved rare diseases and new research funding (38) and
research performing organisations (115). Globally, there is an important expansion in the number of entities
involved (from 93 in EJP RD to 171 in ERDERA) which notably enhances the activities to be undertaken
and their impact. Moreover, the majority of ERDERA partners have existing collaborations established
through previous projects or are united within existing (infra)structures.
As demonstrated in the Methodology sub-chapter, although crucial, the joint transnational calls and
resulting research projects are only one of the building blocks of ERDERA. Beyond the planned funding
opportunities, the Partnership will undertake a comprehensive and solid R&D programme, organised in 25
WPs and 7 overarching Workstreams tightly interlinked to ensure a smooth connection and mutual benefit
between funding activities and the rest of the programme. A strong linkage to national priorities and
capacities will be enabled in ERDERA via the creation of National Mirror Groups (WP23), the National
Alignment Board foreseen in the governance and the national commitments in terms of funding (167.5 M€
earmarked). The Clinical Research Network, including its Diagnostics Pole and the connection with
expertise, education and data capacities will further support the national alignment and exploit national
capacities. RDs posing health and societal challenges at global level, ERDERA will take advantage of
international expertise by directly involving or engaging with partners from outside of Europe (e.g. Canada,
Australia) and of international nature (Rare Diseases International [RDI], World Duchenne Organisation
[WDO], International Rare Diseases Research Consortium [IRDiRC]) to jointly tackle overarching RD
issues, strengthen knowledge sharing and common solutions.
3.2.1 Governance
ERDERA is an ambitious initiative aiming at establishing an impactful and sustainable structure as part of
the RD ecosystem. Accordingly, it will establish a clear governance in order to meet its objectives, build
trust and encompass interests of participating parties and efficiently solve potential conflicts. The ERDERA
management structure aims at transparent decision-making, implementation and advisory processes with
well-defined responsibilities. It will set up an adaptive structure able to tackle emerging needs and
opportunities. It will manage the strategy planning, annual work (plans) and allocation of resources.
Moreover, it will be responsible for interactions with external stakeholders. The proposed organizational
structure of the ERDERA is depicted in the figure below:
Governing Board
The Governing Board and the Board of Funders will operate at the decision-making level. The Governing
Board (GB) will be composed by
(i) one representative of each participating EU Member State, Associated Countries and Third
countries
and one member representing each of the following stakeholder groups:
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(ii) Patients;
(iii) EU Research Infrastructures;
(iv) Industry;
(v) ERNs;
(vi) EC Representatives.
The representative(s) of the European Commission’s policy responsible service (DG Research &
Innovation, DG RTD) will sit at the GB with an observer status.
National representatives to the GB:
One Principal Representative and one Permanent Deputy shall be nominated for each participating country.
Nominated Principal Representatives and their Permanent Deputies shall not be members of other
ERDERA bodies. Exceptions may apply for certain countries with limited human resources. Members of
the GB will actively participate in a cooperative manner in the activities and meetings of the GB.
The GB will select a chair and vice-chair, one of them from an under-represented country, who will
represent the voice and the quorum decisions of the GB. The ERDERA coordination office will ensure the
secretarial support to the GB. All GB meetings will be co-moderated by the GB chair and the ERDERA
coordinator. When relevant, the GB chair and vice-chair will also support the coordinator to enhance the
political and strategic visibility of the programme.
The GB is the ultimate decision-making body regarding any strategic decisions of ERDERA, excluding
final decisions on topics of joint transnational calls, which fall under the mandate of the Board of Funders.
More specifically, the GB:
- provides the strategic steering and ensures coherence, between Partnership activities and relevant
European/national/international initiatives and policies;
- provides feedback and approves ERDERA priorities (and sensitive strategic matters) through the rolling
annual plans;
- delivers input to the ERDERA progression (periodic reports, AWP) and provide feedback to key
strategic milestones/deliverables;
- contributes to facilitate the uptake of the ERDERA results and outcomes and catalyses the exchanges of
best practices and their uptake at the National level;
- reflects on sustainability of ERDERA outcomes and research resources.
The GB will provide feedback, discuss and approve the strategic propositions made by the Executive
Committee (ExCom) and the General Assembly (GA). In particular, the GB will provide feedback and
approve: (i) the initial SRIA and its updates; (ii) the inclusion and exclusion of partners; (iii) the AWPs and
annual summary reports; (iv) the achievement of the most significant milestones; (v) the budget; (vi) the
ethical, legal and data management frameworks; (vii) and the ERDERA long-term sustainability plan. As
a result, budgets and workplans are subject to change based on the outputs of the programme monitoring
activities, followed by discussion and approval of AWPs. The GB will meet twice per year and ad hoc
meetings may be organised whenever it is necessary to discuss strategic orientations of ERDERA. One of
the yearly meetings will be face-to-face for the approval of the AWP and may be combined with a meeting
of the ExCom and MAB. The second yearly meeting will be virtual. A structured process will be put in
place, to facilitate GB in providing feedback and allow sufficient time to provide input, discuss and take
informed decisions, as a separate decision-making body.
The Board of Funders (BoF) will be composed by one representative per Research Funding Organisation.
It will be chaired by the leader of the RD Funding Work Stream and co-chaired by a representative from
under-represented country. The EC will be a member of the Board of Funders. The BoF will be the ultimate
decision maker with regards to ERDERA’s competitive calls for projects. This comprises the design of the
call, timelines, call texts and topics, guidelines and rules for participation and topics selection. For JTCs
based on a 2-step evaluation process and recommendation by the JTC Scientific Evaluation Committee, the
BoF has final decision on the pre-proposals to be invited to the second stage and on the final list of projects
to be funded. Each BoF's organisation makes the final decision on its funding contribution according to its
respective regulations, calendar and legal frameworks, but commits to follow the list of projects
recommended for funding and prioritized by the BoF. The BoF will also supervise the progress of the calls
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and the evaluation of proposals, and monitor actions taken by the acting Call Secretariat. It will validate the
composition of the respective JTC Scientific Evaluation Committees and ensure the correct implementation
of procedures. The BoF will meet at least twice a year.
The execution of ERDERA’s activities will rely on the General Assembly, Executive Committee,
Operating Group and Coordination Office. The General Assembly (GA) will meet once a year and will
manage the contractual implementation of ERDERA on the scientific and administrative level. It will be
composed by one member per consortium organisation, including Grant Agreement Signatories and
Associated Partners, divided in 4 stakeholder groups: (i) Funders; (ii) Research performing organisations
receiving funding (RPO); patient representatives (iii) Industry members (providing in-kind contributions
and engaged as Associated Partners).
General Assembly
The GA will manage the contractual implementation of ERDERA on the scientific and administrative level.
GA will also have an important role in developing proposals for the scientific priorities and strategic
orientations to be submitted for feedback, discussion and final approval by the GB.
GA will develop proposals and preparatory agreements for any substantial and strategic decisions requiring
the contribution of the whole consortium. In particular, the GA will submit proposals for feedback,
discussion and final approval decision of the Governing Board regarding: (i) the initial SRIA and its
updates; (ii) invitation or removal of members from the consortium; (iii) the Annual Work Plans and annual
summary reports; (iv) the achievement of the most significant milestones and deliverables; (v) the ethical,
legal and data management frameworks developed; (vi) the long-term sustainability plan for ERDERA.
Executive Committee
The Executive Committee (ExCom) will consist of the Coordination Team, Work Stream Leaders and all
WP Leaders, chaired by the Coordinator. ExCom will ensure the implementation of ERDERA’s actions
according to the overall 7-year plan and the individual AWPs, monitoring progress according to the
milestones set out. The ExCom will develop the AWPs and be responsible for the quality control of
deliverables and reports. It will adopt solutions to problems encountered during implementation. The
ExCom shall refer to and get approval from the GA and GB if no agreement is reached or if the solution
implies major deviations from the work plans agreed by the GB. Whenever the problems encountered may
impact the future EU and/or Member States research strategy issues, then such issues should be discussed
proactively and seek approval of the GB and the EC services. The Coordinator will duly inform the relevant
bodies (GA, GB, MAB) to prepare the discussion and, where relevant, the approval of the GB/EC about
expected deviations. Additionally, ExCom will oversee how resources are spent and propose changes if
needed. It will support the GA in preparing the basis for decisions to be taken by the GB. Moreover, it will
support the establishment of connections with sister initiatives at national, EU and international level. The
ExCom will meet every three months.
Since the ExCom will be a relatively large body, an Operating Group (OG) will be created for the efficient
administration of day-to-day activities. The Operating Group will be composed of the Coordination Team
and all Work Stream leaders. The OG will be responsible for close communication and coordination of
activities between different Work Streams and WPs, reflecting on progress and future direction and vision
for ERDERA. Regular conference calls will ensure close follow up of activities, continuous alignment and
adequate reactivity in case of urgent situations requiring risk management. The OG will participate in the
preparation of the ExCom meetings and support the development of the Annual Work Plans. It will meet
every three weeks.
The Coordination Office will be composed by the Coordinator (Coo) and the Coordination Team (Coo
Team). It will be under the responsibility of the Coordinator and will include a team of managers with
expertise in project management, communication, financial and administrative aspects, risk management,
ethics, patient engagement, data management, legal, sustainability, impact and monitoring. The Coo,
supported by the Coordination Office, will be in charge of the day- to-day overall scientific, administrative
and financial management of the project and will be the primary contact point for the European
Commission. Moreover, the Coo will represent ERDERA at the EU and international level. The
Coordination Office will: (i) ensure the implementation of the Grant Agreement signed with the EC; (ii)
prepare the Consortium Agreement (CA) to be signed by the consortium; (iii) update the CA and submit
amendment requests to the Grant Agreement; (iv) oversee deadlines of milestones and activities and quality
control of deliverables; (v) propose contingency action plans to the ExCom and oversee their
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implementation; (vi) report on the implementation of the initiative and challenges encountered to the
ExCom; (vii) act as the scientific secretariat of the ExCom meetings; (viii) facilitate cooperation and
alignment across WPs and Work Streams; (ix) ensure technical and financial reporting to the European
Commission and budget management; (x) organise the GB and MAB meetings; (xi) ensure transversal
activities (coordination, management, communication, strategy, sustainability, ethics); (xii) follow-up on
the impact and monitoring of ERDERA; (xiii) Implement the engagement strategy of the Partnership
proposed by the ExCom, developed in collaboration with MAB and the National Alignment Board and
validated by the GB. Meetings of the Coordination Office will be called every 2 weeks. The advisory level
will consist of the Multistakeholder Advisory Board and the National Alignment Board.
A permanent Multistakeholder Advisory Board (MAB) will be established to allow a good overview of
the ERDERA progress and allow informed advice. MAB will be composed of external independent experts
representing different types of stakeholder perspectives (i.e., patient organisations, academic institutions,
public and private funders, regulatory bodies, including EMA, FDA and Health Technology Assessment
(HTA) representatives at the EU level (e.g., EU-Innovation Network), EHDS representatives, ERN
representatives, ethicists, etc). The final list of experts that will compose the MAB will be included as a
deliverable. The MAB will support the consortium and the GB by providing key advice to feed the strategy
of the research and support activities foreseen in ERDERA. This may include advice on the future
orientations of the Clinical Research Network, Joint Transnational Calls and Clinical Trial Calls, the
exploitation strategies of research results etc. In addition, MAB will ensure that patient needs are key drivers
for funded research and support activities and focus is on priorities that maximise the impact of the
partnership, targeting under-represented diseases, meaningful topics yet underexplored, and guaranteeing
high-quality, open and re-usable results and translation in clinical impact.
The MAB may suggest the creation of temporary or permanent thematic groups involving additional
external experts to expand the expertise of the MAB and advise ERDERA’s partners on specific matters,
such as the ones mentioned above. These expert groups will always include some MAB members and will
be chaired by one of the MAB permanent experts. The MAB will meet every four months.
The National Alignment Board (NAB) will be composed of representatives of each National Mirror
Group (NMG) and representatives of the European Commission services when relevant. NAB will have a
Chair and a vice-chair, one of them being from an underrepresented country and will report regularly to
GB, particularly on implementation of best practices. European networks of relevance, with national
representations (such as ERN Board of Member States, HTA network etc.) could possibly be involved
too, to support national alignment and efforts.
The chair of the NAB will update the GB and the MAB on the NAB discussions and activities. The NAB
will provide continuous feedback from relevant national stakeholders in order to translate efficiently the
specific needs and strategy represented by countries or European Commission as well as the outcomes of
ERDERA. Thus, the NAB will ensure that national activities, strategies and needs are considered when
taking decisions at the Partnership level and when designing the AWPs. NAB meetings will take place at
least once a year in order to share the progress on the creation and operations of NMGs, to highlight success
stories and to share good practices. As described above and shown in the governance figure, the European
Commission will have a strong voice in the ERDERA partnership through several mechanisms: member of
the Governing Board and the Funders Board and via regular liaison with the Executive bodies in the
governance. In addition to this direct representation, the interaction will be enrolled through regular
meetings between the Coo and the EC Directorate Generals and relevant Agencies to ensure appropriate
liaison & coordination.
Conflicts of interest:
The rules applied under Horizon Europe for Conflict of Interest will be applied whenever such conflict may
impact the functioning of the governing or advisory bodies. A Conflict of Interest (CoI) is a situation where
the impartial and objective involvement is compromised for reasons involving economic interest, political
or national affinity, family or emotional ties or any other shared interest.
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While the execution part will involve mostly the Coordination team, OG, ExCom, and General Assembly,
the governance will be structured around the GB and the Board of Funders. The first one will provide the
political and strategic steering within the frame of the Partnership to ensure coherence between Partnership
activities and relevant European/national/international policies and priorities and facilitate the uptake of the
Partnership results and outcomes and reflect on sustainability. The latter has a specific and “limited” role
in the context of funding activities of the Partnership that are based on the provision of funding to third
parties (Joint Transnational Calls, Networking support scheme and Clinical Trials Call). The strategic
process will involve additionally the MAB and the National Alignment Board.
To keep the Partnership on track while acknowledging the flexibility necessary to adapt its strategy to the
evolving scientific and policy circumstances and to allow on timely deployment of revised agendas and
activities, the governance and strategy driving processes must be dynamic and agile. This requires
implementation of clear processes, tools and regular meetings to support the work of governing and strategy
bodies.
A structured and collaborative process will be implemented to ensure that the SRIA remains relevant,
aligned with changing goals and priorities, and responsive to emerging challenges and opportunities.
Stakeholders including, but not limited to researchers, patient representatives, policymakers, industry
representatives and relevant experts will remain engaged in the SRIA Task Force and aligned through the
organization of workshops, focus groups, and surveys to gather input on the current SRIA's strengths,
weaknesses, and areas for improvement. The alignment with national, regional, and international research
and innovation policies and strategies will continuously be sought with the help of the Governing Board.
A comprehensive analysis of the changing technological, economic, social, and environmental landscape
will be conducted as part of the environmental scan, with the help of the MAB. It will seek to identifying
emerging trends, challenges, and opportunities that may impact the SRIA's relevance and effectiveness.
The SRIA will also undergo a SWOT analysis to identify gaps or shortcomings in the existing agenda that
need to be addressed.
The review of previous performance will be accomplished through the assessment of the progress made on
the goals and objectives outlined in the current SRIA version, using the ERDERA monitoring framework,
identifying areas where targets were met, exceeded, or fell short.
Considering the insights from the above-described stakeholder engagement, environmental scan, and
SWOT analysis, objectives may be added or updated to be made clearer and more measurable, and priorities
would be defined based on the identified trends and challenges, focusing on areas with high potential
impact.
The process of updating the SRIA will always consider alignment with funding sources and government
policies as well as the agenda integration with relevant funding programs, grants, and initiatives.
The Partnership’s communication strategy will ensure the information of stakeholders about the updated
SRIA, its goals, and the rationale behind the changes through various channels, such as websites,
workshops, conferences, and publications. Moreover, a flexible and open feedback mechanism will be
established to allows stakeholders to provide ongoing input and insights as the updated SRIA is
implemented.
The AWP process will contribute to all three overarching goals and to the impacts of both ERDERA and
those set out in the work programme of Horizon Europe. This will be monitored through the ERDERA’s
monitoring system, captured, and analysed. Specific targets for each objective have been specified in the
description of the WP and/or are directly linked and will contribute to the KPIs defined for Operational
Objectives. The progress will be reported in the Annual Progress Reports.
Openness, transparency and inclusivity
Openness and transparency have been ensured in ERDERA by promoting the active participation of the
entire multistakeholder RD research ecosystem covering the whole pipeline. In terms of geographical
coverage, all EU and EEA MS and associated countries were approached during the preparatory phase, to
ensure the widest possible geographical involvement. Emphasis has been placed on including countries
traditionally underrepresented in RD research. This resulted in 265 institutions from 33 countries expressing
their interest in joining the Partnership of which 171 organisations were included. Global international
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collaboration will be further ensured through IRDiRC, and by introducing the expertise of other global
actors to specific activities. Patient-centredness and responsiveness to patient-need led research has also
been included. Alignment of European and national RD research policies and activities according to the
identified needs and priorities of every MS/Associated Country will be ensured through the National
Alignment Board (NAB) and National Mirror Groups (NMGs). NMGs will ensure a two-way link with the
Partnership, feeding national needs and expertise into the ERDERA’s activities, priorities, and outputs and
in turn, disseminating the results of the Partnership to the ‘grassroots’ researcher level. Alignment with the
relevant other EU Partnerships, programmes, projects, initiatives (EU-wide and global) will ensure the
complementarity and synergies and avoid duplication of efforts. ERDERA will actively engage with
complementary fields, such as personalised medicine and digital health. Priorities of ERDERA will be
revisited at regular intervals to factor in novel developments in the field and national priorities, involving
the whole consortium and the National Alignment Board and will feed the annual planning process. Where
possible and required, the advisory governance bodies of ERDERA will be consulted. Dissemination (e.g.,
workshops and webinars), consultancy and advisory activities will be open to a broader collaborator base
and the general public as much as possible. Ultimately, the executive governance layer of the ERDERA
will be responsible for an active outreach and liaison with potential partners and identification of cross-
cutting activities. Dissemination, awareness-raising and capacity building activities will include a range of
measures and tools targeted at different groups and stakeholders. The basis for each Annual Work
Programme (AWP) will be the initial multiannual work programme laid out in the Grant Agreement. This
will be revised and defined in more detail across the broad annual programming process, which will centre
on meetings of the National Alignment Board and Governing Board. As these meetings unite both
ERDERA partners and external stakeholders, prioritisation of tasks for finalisation of each AWP will
benefit from broad input.
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4. Ethics self-assessment
1. Human embryonic stem cells and human embryos Yes/No Page
Does this activity involve human embryonic stem cells (hESCs)? No
Does this activity involve the use of human embryos? No
2. Humans Yes/No Page
Does this activity involve human participants? Yes From
task 6.2
to WP23
If - Are they volunteers for nonmedical studies (e.g. social or Yes From
YES: human sciences research)? task 20.1,
to WP 23
- Are they healthy volunteers for medical studies? No
- Are they patients for medical studies? Yes From
task 6.2
to task
12.5
- Are they potentially vulnerable individuals or groups? Yes From
task 6.2
to task
12.5
- Are they children/minors? Yes From
task 6.2
to task
12.5
- Are they other persons unable to give informed consent? Yes From
task 6.2
to task
12.5
Does this activity involve interventions (physical also including YES TASK 8.2-
imaging technology, behavioural treatments, tracking and tracing, 8.3
etc) on the study participants?
If - Does it involve invasive techniques? YES TASK 8.2-
YES: 8.3
- Does it involve collection of biological samples? YES TASK 8.2-
8.3
Does your activity involve conducting a clinical study as defined by No
the Clinical Trial Regulation 536/2014 (using pharmaceuticals,
biologicals, radiopharmaceuticals, or advanced therapy medicinal
products)?
If Is it a clinical trial? No
YES: Is it a low-intervention clinical trial? No
3. Human cells / tissues Yes/No Page
Does this activity involve the use of human cells or tissues (not covered Yes WP8
by section 1)?
If - Are they human embryonic or foetal cells or tissues? No
YES: - Are they available commercially? No
- Are they obtained within this project? Yes WP8
- Are they obtained from another project, laboratory or Yes WP8
institution?
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- Are they obtained from a biobank? Yes WP8
4. Personal data Yes/No Page
Does this activity involve processing of personal data? Yes All WPs
If - Does it involve the processing of special categories of personal Yes From
YES: data (e.g. sexual lifestyle, ethnicity, genetic, biometric and WP6 to
health data, political opinion, religious or philosophical WP12
beliefs)?
If - Does it involve processing of genetic, biometric or Yes From
YES: health data? WP6 to
WP12
- Does it involve profiling, systematic monitoring of Yes WP10
individuals, or processing of large-scale of special
categories of data or intrusive methods of data
processing (such as, surveillance, geolocation, tracking
etc.)?
Does this activity involve further processing of previously collected Yes From
personal data (including use of pre-existing data sets or sources, WP6 to
merging existing data sets)? task 16.2
Is it planned to export personal data from the EU to non-EU NO
countries?
If Specify the type of personal data and countries involved
YES:
Is it planned to import personal data from non-EU countries into the YES All WPs
EU or from a non-EU country to another non-EU country?
If Specify the type of personal data and countries involved: All WPs
YES: (data on outcome measures and safety after treatment, genomic
data and clinical metadata) : Turkey
Personal data (name and contact details e.g., email address) of
non-EU country researchers will be processed for
organisational and dissemination purposes: Serbia, Türkiye,
Israel, United Kingdom, Georgia, Morocco, Canada, Australia
Does this activity involve the processing of personal data related to NO
criminal convictions or offences?
5. Animals Yes/No Page
Does this activity involve animals? Yes WP11
and 21
If YES: Are they vertebrates? Yes WP11
and 21
Are they non-human primates (NHP) (e.g. monkeys, No
chimpanzees, gorillas, etc.)?
Are they genetically modified? No
Are they cloned farm animals? No
Are they an endangered species? No
6. Non-EU countries Yes/No Page
Will some of the activities be carried out in non-EU countries? YES FROM
WP6 TO
WP8
If Specify the countries:
YES: TURKEY, U.K
In case non-EU countries are involved, do the activities undertaken No
in these countries raise potential ethics issues?
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Is it planned to use local resources (e.g. animal and/or human tissue NO
samples, genetic material, live animals, human remains, materials of
historical value, endangered fauna or flora samples, etc.)?
Is it planned to import any material (other than data) from non-EU YES From
countries into the EU or from a non-EU country to another non-EU WP6 to
country? WP8
For data imports, see section 4
If Specify material and countries involved: CSF and serum, Turkey
Yes:
Is it planned to export any material (other than data) from the EU to NO
non-EU countries?
For data imports, see section 4
Does your activity involve low and/or lower-middle income No
countries?
Could the situation in the country put the individuals taking part in No
the activity at risk?
7. Environment, health and safety Yes/No Page
Does this activity involve the use of substances or processes that may NO
cause harm to the environment, to animals or plants (during the
implementation of the activity or further to the use of the results, as
a possible impact)?
Does this activity deal with endangered fauna and/or flora / protected NO
areas?
Does this activity involve the use of substances or processes that may NO
cause harm to humans, including those performing the activity
(during the implementation of the activity or further to the use of the
results, as a possible impact)?
8. Artificial intelligence Yes/No Page
Does this activity involve the development, deployment and/or use of Yes From
Artificial Intelligence-based systems? WP6 to
If yes, detail in the self-assessment whether that could raise ethical Task
concerns related to human rights and values and detail how this will be 16.2
addressed.
Could the AI based system/technique potentially stigmatise or No
discriminate against people (e.g. based on sex, race, ethnic or social
origin, age, genetic features, disability, sexual orientation, language,
religion or belief, membership to a political group, or membership to
a national minority)?
Does the AI system/technique interact, replace or influence human Yes
decision-making processes (e.g. issues affecting human life, health,
well-being or human rights, or economic, social or political
decisions)?
Does the AI system/technique have the potential to lead to negative No
social (e.g. on democracy, media, labour market, freedoms,
educational choices, mass surveillance) and/or environmental
impacts either through intended applications or plausible alternative
uses?
Does the AI to be developed/used in the project raise any other ethical No
issues not covered by the questions above?
9. Other ethics issues Yes/No Page
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Are there any other ethics issues that should be taken into NO
consideration?
Ethics self-assessment
Following the completion of the ethics issue table above, below is the ethics self-assessment
Ethical dimension of the objectives, methodology and likely impact
The below explanation addresses the identified issues in relation to:
– objectives of the activities (e.g. study of vulnerable populations, etc.)
– methodology (e.g. clinical trials, involvement of children, protection of personal data, etc.)
– the potential impact of the activities (e.g. environmental damage, stigmatisation of particular
social groups, political or financial adverse consequences, misuse, etc.)
ERDERA foresees research activities involving animals and rare disease patients, including children
and other vulnerable populations.
Human subjects will be involved in most of the activities planned by ERDERA and in the funded
projects. The following aspects has been considered:
- the interventions (blood samples)
- the use of human cells/tissues prospectively and previously collected from patients including
children and/or stored in a biobank, and the related processing of (previously collected)
personal health data from minors, possibly genetic data, as detailed below.
- the prospective and retrospective processing of health and genetic data from patients, including
minors (WP 6 - 12)
- the prospective collection of health data from patients PROs and other health data with
surveillance in registries and EHR (WP10)
- the use of mHealth technologies implementing geolocation to collect patient self-reported data (WP10).
Various planned activities deal with the use of personal data including surveys and training activities
(within WP 21, and 23) as well as communication and dissemination activities and other with the use
or re-use of special categories of data including the health and genetic ones.
Personal data will not be exported from the EU to non-EU countries. On the other hand, health data
(i.e. data on outcome measures and safety after treatment, genomic data and clinical metadata) will be
imported from project partners from Turkey, into the EU.
In addition, personal data (name and contact details e.g., email address) of non-EU country (Serbia,
Türkiye, Israel, United Kingdom, Georgia, Morocco, Canada, Australia) researchers will be imported
for organisational and dissemination purposes into the EU.
With regards to animal research studies, the use of vertebrates (mice) is foreseen for preclinical studies
in WP11 and WP21.
The project does not plan to use any local resources of non-EU countries, because they will not be
involved in the handling of human samples and animal studies.
Results from this project will be of benefit for all countries involved, facilitating the rare diseases
research.
Considering the health-research purposes of the project and the proposed strong measures for data
protection and for the lawful and ethical conduct of research, as described in the project, neither ethics
risks nor misuse of data nor impact of the proposed activities to the rare disease patients safety, well-
being and rights are envisaged.
Finally, the project proposal aims to adopt Artificial Intelligence (AI) methods within the Data services
Hub. AI models will be used in the studies of different diseases involving patients data. No ethical
concerns related to human rights and values are expected.
In fact, AI approaches is proposed to
- support FAIRification. This is restricted to suggesting ontology-based annotations for data
elements and values, which are validated by data stewards. The performance of this hybrid
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intelligence will be assessed and compared to that of a purely manual approach to minimize
annotation errors and bias.
- for multi-omics and multimodal integrations intended to be explainable, i.e., the results of the
methods can be understandable and trusted by human users. To these goals, we mainly work on
methods based on networks, such as data integration with knowledge graphs, pathway-level
interpretations.
Importantly, these types of approach allow using prior knowledge, and overall permit better technical
robustness.
The social acceptance and context will be a part of the design of the DSH requirements in WP13, and
the operation environment oriented to the use of the results by health professionals and health
researchers.
The application of AI will be reliable and avoiding the potential risks of harming even unintentionally.
The methods which will be used (knowledge graphs, pathway-level interpretations, ontology-based
methods, or neural networks based methods among others) will be provided with the required level of
“explainability” and "interpretability" of the decisions suggested, discarding methods which are not
able to provide the sufficient level of explanation with the current available techniques (e.g. SHAP,
LIME, etc.).
Importantly, the above ethics-assessment is referred to project research activities. In addition, in the
framework of the Funding Work Stream, ERDERA also foresees the funding of research projects,
namely Joint Translational Calls (JTCs) that may encompass both non-clinical and clinical research,
Clinical Trials (as defined under Regulation (EC) 536/2014) and Networking Support Scheme, that
foresees the organisation of networking events. Relevant requirements will be included in the text of
respective calls. For each project, the ethics self-assessment will be performed to specifically address
the applicable ethics issues, as well as the ethics assessment and follow up, to ensure that the Horizon
framework for ethics is fully applied.
Compliance with ethical principles and relevant legislation
Description of how the issue(s) identified in the ethics issues table above will be addressed in order to
adhere to the ethical principles and what will be done to ensure that the activities are compliant with
the E U / national legal and ethical requirements of the country or countries where the tasks are to be
carried out. It is reminded that for activities performed in a non-EU countries, they should also be
allowed in at least one EU Member State.
Highest ethical standards will be implemented for the whole duration of the project. To this aim, all
partners will comply with the applicable national/local and international ethical provisions. The EU
provisions will be applied both in EU and outside.
To guarantee and support ethics compliance of all project activities, a Task will be fully dedicated to
ethics (Task 1.5). An internal Ethics Advisory Group (EAG) will be set up and the ethics assessment
and/or follow-up of funded projects will be performed. In addition, EAG will update the consortium on
the news from the EU framework. Moreover, according to the European Commission provisions, an
Independent Ethics Advisor will be appointed. Close collaboration with the Regulatory Support Group
(WP18) will be foreseen, as well, to ensure alignment on the ethical and regulatory strategy and to
jointly address non-clinical and clinical issues being both ethical and regulatory.
Specifically:
HUMANS will be involved in most of the planned activities. Particular attention will be paid to activities
involving vulnerable participants.
The provisions of the Declaration of Helsinki, the Oviedo Bioethics Convention and its Additional
Protocol, the CIOMS-WHO International Ethical Guidelines (2016), CoE Recommendations No. R (97)
and CM/Rec(2016)6 will be followed. In addition, the 2017 EC Ethical paediatric recommendations will
be followed for clinical studies with minors, and Additional Protocol on Genetic Testing for Health
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Purposes (Council of the EU 2008), UNESCO International Declaration on Human Genetic Data, 2003,
CoE Rec(92) 3 1992 in case of genetic data processing.
For the primary and secondary use of health data, the necessary ethics approvals will be obtained,
informed consent and assent/agreement from minors will be sought. The secondary use of data from
European Reference Network (ERN) registries will use the informed consent form template developed
in the framework of EJP RD and available in 26 EU languages. In case of processing of genetic data, the
development of an incidental findings policy will be implemented.
When handling human cells/tissues, the EU Directive 2004/23 will be followed and compliance with the
applicable laws will be guaranteed in all countries involved. The source of cell/tissues will be verified,
the necessary authorisations for using or producing them will be obtained. Verification of the informed
consent obtained from donors/subjects will be made.
Various planned activities deal with the use of PERSONAL DATA, e.g. surveys and workshops, and
others with the use/re-use of health and genetic ones. The processing of such data will be carried out in
compliance with Reg (EU) 2016/679, with its related national provisions.
The applied legal basis (including but not limited to informed consent) will be verified before any data
processing activity starts.
Appropriate technical and organisational safeguard measures will be adopted to avoid personal data
breaches. The implementation of Data Sharing Agreements will regulate the transfer of data among
institutions; they will consider if the processor and the controller are based in EU countries and if any
specific adequacy decisions between EU and non-EU countries.
Results of the activities will be disseminated only in an aggregate and anonymised way.
The ANIMAL experiments will be conducted in compliance with the 3Rs principles, and the EU
Directive 2010/63, COUNCIL DIRECTIVE 86/609/EEC and the COMMISSION
RECOMMENDATION (2007/526/EC). Where applicable, Good Laboratory Practices, as included in
DIRECTIVE 2004/10/EC will be followed, as well.
In NON-EU COUNTRIES, the highest ethical standards will be guaranteed and the applicable laws
followed.
Relevant authorisations/approvals will be in place for the transfer, e.g. in compliance with Directive
2004/23/EC.
ARTIFICIAL INTELLIGENCE methods adopted within the project will consider the ethical and legal
implication of their applications to the care of persons, cyber security services designed for protecting
users and digital content providers against cyber-attacks, viruses and fraud.
Provisions from the EC Ethics Guidelines for Trustworthy AI (2019) and from the WHO Guidance on
the Ethics and Governance of Artificial Intelligence for Health (2021) will be followed. The 7 ALTAI
requirements will be verified for each AI system, in order to detect any potential risk; the EC tool
(https://altai.insight-centre.org/Home/HowToComplete) will be used. A risk mitigation plan will be
developed, if deemed relevant. Only the techniques with all requirements considered fully fulfilled will
be used within the project.
Involved humans will be duly informed about the risks and benefits of the systems. Compliance with the
provisions from the proposals for European Regulations on Artificial Intelligence (COM/2021/206 final)
and on machinery products (COM/2021/202 final) will be followed, once definitively approved.
4.1. The Ethics Screening Report
The following Ethics categories were identified during the Ethics Review of the submitted proposal
• HEF- HUMAN EMBRYONIC STEM CELLS AND HUMAN EMBRYOS
• H- HUMANS
• HCT- HUMAN CELLS / TISSUES
• POPD- PERSONAL DATA
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• A- ANIMALS
• NEC- NON-EU COUNTRIES
• EPQ- ENVIRONMENT PROTECTION QUESTION
• AI- ARTIFICIAL INTELLIGENCE
• OEI- OTHER ETHICS ISSUES
The following Ethics requirements were generated:
Nu Ethics Compliance
mb Issues Date
er Category Description (Month)
1 OEI Ethics Advisor 1
2 OEI First report by the Ethics Adviser. 12
3 OEI The second report by the Ethics Adviser. 24
4 OEI The third report by the Ethics Adviser. 36
5 OEI The fourth report by the Ethics Adviser. 48
6 OEI The fifth report by the Ethics Adviser. 60
7 OEI Sixth report by the Ethics Adviser. 72
8 OEI Seventh report by the Ethics Adviser. 84
Beneficiaries obligations regarding selected research proposals
NEC, OEI, involving the use of human embryonic stem cells (hESC) or human NA
9 HEF embryos (hE) (ongoing)
Details of the generated Ethics requirements:
No 1
Ethics issue
categories: HEF; H; HCT; POPD; A; NEC; EPQ; AI; OEI.
Before Signature: No
Max. compliance 1
date: (Months)
Description: Ethics Advisor_The proposal already provides for the appointment of an
independent Ethics Advisor. Periodic reports by the Ethics Advisor must be
submitted to the granting authority at each reporting period together with the
periodic reports.
The CVs and declarations of absence of conflict of interest for the selected EA(s)
must be kept on file and provided to the granting authority upon request.
European Commission Guidance for Ethics Advisors/Boards can be found at:
https://ec.europa.eu/info/funding-tenders/opportunities/docs/2021-
2027/horizon/guidance/roles-andfunctions-of-ethics-advisory-ethics-advisory-
boards-in-ec-funded-projects_he_en.pdf
Status: When an ethics requirement is substantially altered or cancelled you must
provide an explanation in the comments box.
Comments: None
No 2
Ethics issue HEF; H; HCT; POPD; A; NEC; EPQ; AI; OEI.
categories:
Before Signature: No
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Max. compliance 12
date: (Months)
Description: First report by the Ethics Adviser.
Status: When an ethics requirement is substantially altered or cancelled you must
provide an explanation in the comments box.
Comments: None
No 3
Ethics issue HEF; H; HCT; POPD; A; NEC; EPQ; AI; OEI.
categories:
Before Signature: No
Max. compliance 24
date: (Months)
Description: The second report by the Ethics Adviser.
Status: When an ethics requirement is substantially altered or cancelled you must
provide an explanation in the comments box.
Comments: None
No 4
Ethics issue HEF; H; HCT; POPD; A; NEC; EPQ; AI; OEI.
categories:
Before Signature: No
Max. compliance 36
date: (Months)
Description: The third report by the Ethics Adviser.
Status: When an ethics requirement is substantially altered or cancelled you must
provide an explanation in the comments box.
Comments: None
No 5
Ethics issue HEF; H; HCT; POPD; A; NEC; EPQ; AI; OEI.
categories:
Before Signature: No
Max. compliance 48
date: (Months)
Description: The fourth report by the Ethics Adviser.
Status: When an ethics requirement is substantially altered or cancelled you must
provide an explanation in the comments box.
Comments: None
No 6
Ethics issue HEF; H; HCT; POPD; A; NEC; EPQ; AI; OEI.
categories:
Before Signature: No
Max. compliance 60
date: (Months)
Description: The fifth report by the Ethics Adviser.
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Status: When an ethics requirement is substantially altered or cancelled you must
provide an explanation in the comments box.
Comments: None
No 7
Ethics issue HEF; H; HCT; POPD; A; NEC; EPQ; AI; OEI.
categories:
Before Signature: No
Max. compliance 72
date: (Months)
Description: The sixth report by the Ethics Adviser.
Status: When an ethics requirement is substantially altered or cancelled you must
provide an explanation in the comments box.
Comments: None
No 8
Ethics issue HEF; H; HCT; POPD; A; NEC; EPQ; AI; OEI.
categories:
Before Signature: No
Max. compliance 84
date: (Months)
Description: The seventh report by the Ethics Adviser.
Status: When an ethics requirement is substantially altered or cancelled you must
provide an explanation in the comments box.
Comments: None
No 9
Ethics issue HEF; H; HCT; POPD; A; NEC; EPQ; AI; OEI.
categories:
Before Signature: No
Max. compliance NA (Ongoing)
date: (Months)
Description: Beneficiaries obligations regarding selected research proposals involving the
use of human embryonic stem cells (hESC) or human embryos (hE).
Notwithstanding the stipulations under Article 14 annex 5 of the Grant
Agreement, the Coordinator must inform the Granting Authority in writing of
any research activity within ERDERA (joint transnational calls, clinical
research networks, etc.) that may involve the use of hESC or hE.
The ERDERA research components must ensure that each of these activities
involving the use of hESC/hE successfully passes a scientific evaluation,
during which the necessity of using hESC to achieve the scientific objectives is
assessed (or the use of hE is described) by independent scientific experts.
Following to that, research projects involving hESC/hE may not start without
prior ethics review carried out by the Granting Authority and subsequent
decision of the Programme Committee.
Status: When an ethics requirement is substantially altered or cancelled you must
provide an explanation in the comments box.
Comments: None
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EU Grants: Annex to application form – Annual Work Programme (HE Cofund): V1.1 – 12.01.2022
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Annual Work Plan Year 1
Table of Contents
1. Coherence with part B of the proposal ................................................................................................2
1.1. Annual Work Programme (AWP) objectives ...........................................................................2
1.2. Expected impacts .......................................................................................................................10
1.3. Correspondence with part B of the proposal ..........................................................................11
2. Annual Work Programme Activities ..................................................................................................12
2.1. Annual Work Programme ........................................................................................................12
2.1.1. Structure of the Annual Work Programme ..........................................................................12
2.1.2. Timing of the different programmed activities and their components ................................13
2.1.3. Detailed work description ....................................................................................................17
2.2. Participation in Annual Work Programme activities ..........................................................158
2.1. Resources to be committed. ....................................................................................................217
2.1.1. Summary effort table .........................................................................................................217
2.1.2. Other major costs table ......................................................................................................225
3. Annex 1 - List of Abbreviations ........................................................................................................237
4. Annex 2 - Letter of support to ERDERA from the European Confederation of Pharmaceutical
Entrepreneurs (EUCOPE), the European Federation of Pharmaceutical Industries and Associations
(EFPIA), and the EuropaBio Association of Bioindustries (EuropaBio) ................................................243
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ANNUAL WORK PROGRAMME
1. Coherence with part B of the proposal
1.1. Annual Work Programme (AWP) objectives
ERDERA’s Objectives
As a reminder, the objectives of the Partnership are represented at three levels and organized according to the
Partnership Specific Impact Pathways (PSIPs) presented below (Figure 1). The General Objectives (GOs)
correspond to the long-term impacts to which ERDERA aims to contribute. The Specific Objectives (SOs) reflect
medium-term timescale and correspond directly to the expected outcomes that the Partnership should achieve or
contribute to, in line with its mission, and within its lifetime or, at the latest, at 2034 horizon. Finally, the Operational
Objectives (OOs) are considered as means and resources and are translated through the activities that will be
implemented by the Partnership to accomplish the overarching SO and GO levels.
The GOs are defined in line with the Partnership's vision and mission to improve the health and well-being of people
affected by rare diseases (RDs), by delivering concrete health benefits through prevention, diagnosis, and treatment
development. It was agreed that they should be inspired by and fully aligned with the goals of IRDiRC.
Figure 1. Partnership Specific Pathways of ERDERA (High resolution picture). The interlinks at each level exist: one SO may respond
to more than one expected GO. The PSIP represents the most important (strongest) pathways that were agreed during the ERDERA SRIA
development after the consultation of SRIA Task Force (more than 80 independent experts) and aggregating more than 500 pathways designed
by its individual members. .
GO1: Diagnosis established or enrolment in systematic research in average within 6 months after coming to
medical attention (in EU and Associated countries).
Patients with undiagnosed diseases and their families often face an uncertain and unpredictable journey, called a
diagnostic odyssey (50% of patients with no final diagnosis, more than 4 years of the diagnostic journey). ERDERA
will contribute to shortening the diagnostic pathway for patients with RDs by decreasing time to diagnosis after the
first medical appointment with a specialist for those disorders already identified in the literature. For the undiagnosed
disorders, efforts will be made to build and/or strengthen the bridge between research and healthcare to provide to
every undiagnosed patient the possibility to be included in a globally coordinated diagnostic and research pipeline.
GO2: New effective therapies for rare diseases approved in the EU and beyond.
95% of RDs are still underserved in terms of research and patients with RDs, although diagnosed, face a lack of
viable long-term treatment options. To contribute to IRDiRC goals, and more specifically Goal 2 – “1000 new
therapies for RDs will be approved, the majority of which will focus on diseases without approved options”,
ERDERA will accelerate the development of new therapies (especially for diseases without approved options) by
providing the necessary expertise and technological support to research projects aimed at developing new effective
treatments (encompassing drugs and innovative devices) and by expediting clinical trial readiness of RDs, including
contribution to regulatory fitness to enable regulatory approval.
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GO3: Better understanding of the impact of RDs on patients, families, and society
Understanding of the impact of RDs on people lives means also better evaluation of the societal and healthcare costs
and capacity to implement more inclusive, holistic healthcare approaches. Through required means (funding, data
collection, education, awareness raising) and processes (involvement of PLWRD, public engagement) the
Partnership will contribute to capturing of RD impact and comprehensive understanding of patients and carers needs
leading to more impactful research and, in the long term, improved and/or new processes that will facilitate the
diagnosis and care pathways and translate into meaningful societal support.
SO1: Generation of knowledge and its translation into medical intervention.
The Partnership will enable patient-need led relevant science by providing a RD research support pipeline from basic
research to clinical trial readiness. Attention will be paid to Social Sciences and Humanities research to better
understand the impact of RDs and the potential benefit of new interventions. The integration across value chain will
be addressed by combining research financed and performed by both public and private stakeholders and involving
patients.
SO2: Healthcare and research data are accessible and used for scientific and regulatory evaluation & healthcare
delivery.
ERDERA will support the generation, pooling, integration and sharing of high-quality and interoperable RD data in
an expanding ecosystem of distributed FAIR data sources, building on existing infrastructures encompassing ERDRI,
the EJP RD Virtual Platform, RD-Connect, and services not specific for RD (e.g., BBMRI-ERIC). It will promote
advanced data analysis and data interpretation methods and approaches (both federated and centralised) that exploit
this ecosystem. The partnership will also support the development of data-driven computational tools, statistical and
AI methods, as well as digital solutions to understand the diseases progression, to solve undiagnosed RD cases and
implement new clinical studies/trials designs for small populations.
SO3: All activities empower, as equal partners, people living with rare diseases
The Partnership will provide an inclusive pathway and adequate resources to empower PLWRD and/or
representatives as equal partners. PLWRD will be involved at all levels of governance and execution of ERDERA,
with training or induction as necessary. A structured, flexible, and coherent framework for patient engagement in
research (including funding) will be developed which will be adaptable at national levels and will promote best
practices, re-using, and extending existing resources. To reduce inequities between different types of RD,
underserved RDs will be targeted through, among others, building new or expanded networks and supporting
dedicated research.
SO4: Increased capacity and skills of RD stakeholders to optimize research to healthcare continuum
ERDERA will incorporate capacity building activities as integral part of the RD research pipeline to enable upgrading
of scientific, technology, but also regulatory knowledge of stakeholders participating in research projects financed
through competitive calls but also those performing “in house” research activities as part of the Clinical Research
Network (CRN). Moreover, new generations of RD researchers will be equipped with state-of-the-art competencies.
To unlock the access to RD top-level education to all, the Partnership will develop an accredited, comprehensive
online education programme taking stock of highly performing pre-existing modules complemented by novel
training units.
SO5: Integrated multinational & multi-stakeholder R&I ecosystem for rare diseases.
The Partnership will break the silos between communities by consolidating the already existing strong community
and stepping-up the integration of underrepresented perspectives, namely the industry, regulatory bodies, and payers.
Through dedicated onboarding mechanisms, ERDERA will gradually bring in additional players to attract and
increase the critical mass of resources, know how, talents, and excellence, but also to erase white spots on the RD
research map and offer equal opportunities to patients across Europe and beyond. It will catalyse the transfer of good
practices to the national and regional level by building or consolidating the RD National Mirror Groups (NMGs).
This will be reflected by relevant governance and advisory structures but also overall Partnership organisation to
ensure coherence and maximise impact of all actions.
The OOs supporting SOs and GOs and to be reached via activities described here in Section 2 are: OO1: Investment
in patient need-led research and innovation, OO2: Support robust data, resources, and expertise
infrastructure, OO3: Coordination and alignment of European, (inter)national and regional research
strategies and resources, OO4: Training and education (of RD stakeholders) and OO5: Multi-stakeholder
collaboration.
The following figures reflect on how ERDERA’s Work Streams (WS) and their specific work packages (WPs)
contribute to the General (GOs), Specific (SOs) and Operational Objectives (OOs) set for the programme. Figure
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2 demonstrates the % of activities/tasks that aligns with respective GO and the overall commitment share among the
three GOs. Figure 3 specifies how each WP contributes to the SOs by aligning individual tasks with these objectives.
Finally, the Figure 4 and Figure 5 show how OOs, and therefore specific resources, are employed within each WP
and interaction trends between WPs and the GOs, SOs, and OO, respectively.
Figure 2. Work Package relative contribution to the General Objectives based on the number of tasks involved.
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S 1 S 1 S
S S S S 1
S 1 S S S
S S
S S S 1 S S S
S S S S S S 1 S
S 1
S S
S S S 1 S S S
S 1 S 1 S
S S W
S S S
S
S S
S S
S S S
S S S
S S S 1 S S 1 S
S 1 S S 1
S S 1 S
S 1
S
S
S 1
S S S S S S S S S
Figure 3. Work Package relative contribution to the Specific Objectives based on the number of tasks involved
(highest=upper left corner, descending=first down, then right, lowest=bottom right corner).
1
1
1
1
1
1
1
1 1
Figure 4. Work Package relative contribution to the Operational Objectives based on the number of tasks involved
(highest=upper left corner, descending=first down, then right, lowest=bottom right corner).
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Figure 5. Work Package links to Operational, Specific and General Objectives. The more connections, the larger the
node. The interaction line thickness represents the contribution relative score based on the number of tasks in each work
package contributing to an objective.
It is thus expected that the objectives defined for the Year 1 of the Partnership will align with these overarching
contributions. This will be monitored through the ERDERA’s monitoring system, captured, and analysed. Specific
targets for each objective have been specified in the description of the WP and/or are directly linked and will
contribute to the KPIs defined for Operational Objectives. The progress will be reported in the Annual Progress
Report.
The Year objectives of ERDERA are organized within each ERDERA’s block/WSs as follows:
Coordination & strategy
Objective 1: Establish day-to-day management office to ensure efficient financial administration (budgeting,
planning, accounting), Grant Agreement-bound reporting, data management plan and risk overseeing and
mitigation tactic.
Objective 2: Develop & provide tools for assisting efficient and impactful governance and strategy, including
decision-making processes, supervision of Patient & Public Engagement and Involvement (PPIE) and functioning
of respective governing bodies (Governing Boards, Executive Committee, and Multistakeholder Advisory Board
(MAB), etc.).
Objective 3: Build (based on the already well-established EJP RD system) internal management and monitoring
systems to allow smooth interaction of all project partners, regular internal communication, and assessment of
progress and challenges necessary to feed the decision-making process, strategy, and sustainability.
Objective 4: Guarantee the implementation and compliance with relevant ethical standards in all activities.
Objective 5: Develop ERDERA’s brand and raise awareness about its vision and mission, continuing the process
of its positioning as a pivotal actor to advance RD research and build the RD ecosystem in Europe and beyond.
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Objective 6: Design the communication and dissemination (C&D) strategy that supports long-term ERDERA’s
objectives and all WPs in their communication needs, facilitating the necessary tools and materials and ensure
consistency and alignment with the overall communication strategy and plans.
Objective 7: In collaboration with all WS and partners’, comms representatives promote available resources,
activities, and calls, communicate progress made and disseminate results to build ERDERA’s reputation as an
enabler of innovative, standardised, streamlined, and collaborative transnational RD research.
Funding Work Stream
Objective 8: Implement first joint transnational call.
Objective 9: Develop the framework of the clinical trial call.
Objective 10: Set up and launch the Networking Support Scheme.
Clinical Research Network
Objective 11: Instigate the establishment of the CRN diagnostic data availability and collation effort that
comprises ERNs, national UDPs and national diagnostic centres so that 10,000 data sets can be shared during the
first 12 months.
Objective 12: Instigate the implementation of data standardisation, sharing, federation and quality control so that
data analysis methodologies can be applied.
Objective 13: Set up the processes to enable access and federation of data for re-analysis of large datasets and
return research results to the clinics, to RD patients and their families.
Objective 14: Start the re-analysis of existing data following a distributed approach while starting preparations for
a federated model to discover novel diagnoses.
Objective 15: Kick-start the organisation of variant interpretation and the development of best practices to improve
this activity across disease groups and ERNs.
Objective 16: Enable access of complete genome sequencing for RDs in underrepresented countries.
Objective 17: Make multiple RWD data sets available for data integration and optimise the data quality of
available data sets.
Objective 18: Establish the legal and formal prerequisites for extraction of primary healthcare data.
Objective 19: Establish the overall regulatory strategy for development and validation of PCOMs in RDs.
Objective 20: Develop the study protocols for targeted use cases including selection of PROMs, and end-user
requirements both clinical and technological.
Objective 21: Identify the most urgent and suitable disease groups for ATMP therapies.
Objective 22: Start working on all aspects of the N-of-few platforms including consensus on patient identification
criteria and first outcome measures, trial design, and treatment site criteria for N-of-1 treatments.
Data Services Hub
Objective 23: To organise the workflow and to technically lead the teams of Data Services Hub + CRN/JTC/CT
researchers and developers to ensure a perfect alignment of Data Services Hub activities from Year 1 onwards.
Ultimately to effectively complete projects that result in increasing numbers of stakeholders contributing to the
Data Hub as value proposition (effectuate the CTO role).
Objective 24: Scale up the federated infrastructure built in EJ RD (RD-VP) by evolving a service-oriented
architecture (SOA) to accommodate data, knowledge, and analysis methods from related CRN/JTC/CT projects.
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Objective 25: Onboard sets of resources, to make them automatically findable within the SOA-based ecosystem,
accessible under well-defined conditions, interoperable based on the ecosystem's implementation guidelines,
and reusable (allow for querying and reusing data within the connected resources).
Objective 26: Provide the requirements and design the workflow to efficiently organise interdisciplinary data
readiness teams executing FAIR data creation and FAIR data processing.
Objective 27: Provide a first prototype of design of project ingestion tooling.
Objective 28: Study the data kinds and quality (RWD, Synthetic, clinical trial collected, etc.) required in at least
2 pilot cases coming from WP9 and improve the interoperability of platforms for this purpose.
Objective 29: Provide tools and services for RD partners to prepare data for the regulatory pathway in drug
development, in collaboration with WP18, including clinical collected data and synthetic data.
Objective 30: Start the contribution to the design and use of a Data Hub personal data control that guarantees that
individuals can have access to data records derived from them and, to set data record use conditions.
Objective 31: First release of analysis ready reference deployments of the ERDERA analysis infrastructure,
including support and interoperability with WP13-15 data ingestion, and ability to scale to cloud computing
matching CRN prioritised needs.
Objective 32: Collect and develop protocols, software, and pipelines for large data sets and high-performance
computing (HPC) analyses and deploy to the infrastructure, with priority on CRN first analysis objectives.
Objective 33: Collect and develop protocols, software, and systems that enable federated data analysis use cases
and pilots, with focus on a demonstrator that integrates the main federated analysis frameworks.
Objective 34: Define first research question for RD Maps towards years-3 proof-of-concept.
Objective 35: Start specifying the requirements for use of the specified knowledge bases and their assess
interoperability needs to connect them to RD Maps.
Expertise Services Hub
Objective 36: Continue and further expand the successful EJP RD mentoring program accompanying funded
projects starting at the design phase and if required also during project development.
Objective 37: Initiating a feasibility study of a potential workflow for additional expert support based on a
consultancy service-based model.
Objective 38: Create a one-stop point for regulatory scientific questions related to preclinical and clinical research
in the form of a dedicated project Regulatory Support Group.
Objective 39: Start developing new regulatory support tools to facilitate more effective translation of new therapies
to the clinic.
Objective 40: Start operational activities to provide advice on opportunities, strategy, and timings to engage with
regulatory agencies, including the qualification of novel methodologies and standards to streamline new
therapeutic development for RD at the appropriate time.
Objective 41: Provide the necessary guidance required to support efficient, regulatory-compliant first in man
clinical trials.
Objective 42: Initiate the methodological knowledge transfer, whereby at least one concrete (clinical) case will be
identified.
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Objective 43: Identify and review methods available for the use of Real-World Data (RWD), RDs design and
analysis, when data are hierarchical, incomplete, and/or of different data types as well as of a non-parametric,
pharmacometrics, and randomization-based nature.
Education & Training
Objective 44: Empower first cohorts of patient representatives (including paediatric patients) to enable their full-
scale involvement into RD research for patient-centricity.
Objective 45: Support the RD-focused career development of young researchers through mutual learning with
patient representatives.
Objective 46: Build the foundations of a European University Diploma on RD research.
Objective 47: Develop a first set of online and face-to-face trainings for the RD community following 5 main
training tracks: diagnostic research, clinical research, research methodologies, clinical trials and management, and
data research.
Objective 48: Support wide dissemination of education and training to be developed in Year 1 into national
systems through the train-the-trainer principle.
Acceleration Hub
For the ATMP Technology Accelerator:
Objective 49: Define starting materials (plasmids, cell line, etc.) that can adequately support rAAV manufacture.
Objective 50: Optimize RNA sequence design to provide higher stability, long-lasting efficacy, and tissue/cell-
specific expression.
Objective 51: Investigate mechanisms underlying extracellular interactions and intracellular processing of
LNPs/EVs to better understand LNPs/EVs uptake and trafficking, endosomal escape, delivery, macromolecular
interactions, and biophysical processes in the cytosol of host cells and associated innate immune/inflammatory
responses.
Objective 52: In vitro selection of editing tools (i.e., combination of editing enzymes and gRNAs) and bespoke
gene editing reagents to correct disease-causing mutations affecting human Hematopoietic Stem and Progenitor
Cells (HSPCs), the central nervous system and the retina, and the liver and the muscle.
Objective 53: Define test formats of different platforms used by the various partners of WP21 for in depth-
assessment of immune reactivity and outline of a test strategy to get best comparability between labs.
For the PPP Accelerator:
Objective 54: Create workflows and legal documentation necessary to structurally identify, evaluate and select
projects, the liaison with third party investors and innovation funders and the definition and readiness of the project
selection process for the PPP Accelerator.
Inter(national) Alignment
Objective 55: Develop or consolidate at least 23 NMGs including definition of their mandate, constitution of the
National Alignment Board and organization of the first NMG annual meeting.
Objective 56: Map the strategic alliances with initiatives outside ERDERA and prepare the enrolment of possible
collaborations by developing formal documentation (MoU models).
Objective 57: Support IRDiRC consortium (its 7 committees) and its planned activities (Task Forces) through the
Scientific Secretariat office.
Objective 58: Contribute to the internationalisation of the CRN by preparing the 2nd International CRN Conference
based on the outputs gathered from the first conference edition, and in collaboration with the ERDERA’s CRN
stakeholders and their USA equivalents.
Objective 59: Build the governance of the ERN Living Lab, identify relevant stakeholders, and support
dissemination of ERDERA’s activities to ERN members.
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Objective 60: Map capabilities, assets, and capacity development of underrepresented countries.
Objective 61: Build synergies with the network of national contact points for health and widening aspects of
Horizon Europe.
Objective 62: Define preliminary measures to boost inclusion of UCs in ERDERA funded projects.
1.2. Expected impacts
The AWP of Year 1 will contribute to all three overarching goals and impacts of ERDERA and impact set out in the
work programme of Horizon Europe (see also Part B of the proposal, section Impact). The concrete contributions
will be measured through linked Key Performance Indicators (KPIs). The table below specifies the indicators that
will be captured within the first year. ERDERA’s monitoring system will enable collection of data necessary to
measure the progress towards, and achievement of objectives and impact of the AWP Year 1.
European Partnership [European Rare Diseases Research Alliance] Monitoring and evaluation framework
Overall vision: To improve the health and well-being of 30 million persons living with a rare disease in Europe, by making
Europe a world leader in RD research and innovation, and delivering concrete health benefits to rare
disease patients, through better prevention, diagnosis, and treatment.
Objectives What is a measure Which is the data source | and Who is responsible Baseline and
of success? methodology used for monitoring and target
[project data, study, .] | Unit of providing the data/
measurement information
When will it be
collected?
SO2 Use of data sources ERDERA Data Hub & monitoring Responsible: Data Baseline:
system | increase of access to research services Hub Work Number of VP
Specific objectives* (linked to outcome/result
data sources through the Virtual Packages leaders. Access at the
Platform | % Assessment end of EJP RD.
frequency: Yearly. Target: Y0:
+5% Y1: +5%.
SO3 Capacity building Training activity surveys & monitoring Responsible: Baseline:
of RD patients system | Number of patients Workstream Historic data
empowered, within the Partnership, Education and from EJP RD :
through capacity-building and training Training leaders & 350 per year.
activities related to research | Number PPIE. Assessment Target: Y1:
patients participated at training frequency: Yearly. 2500-3000 every
activities per year year
SO3 Patients involved in Funding workstream reports; Project Responsible: RD Baseline:
indicators)
RD funded projects reports; & monitoring system | funding Workstreams Historic data
Percentage of funded research projects leaders & PPIE. from EJP RD:
that involve patient organisations as co- Assessment 60%. Target:
designers. | Percentage frequency: Yearly. Y1: 70%.
OO2 Integrated Data ERDERA Data-Hub, monitoring Responsible: Data Baseline: 0.
Service system & coordination and Services Hubs WP Target: Y1: 30.
Operational objectives* (linked to
infrastructure Management workflow | Services and task leaders, and
provided by the integrated data Coordination team.
infrastructure | Number Assessment
output indicators)
frequency: yearly.
OO2 Integrated Expertise ERDERA Data-Hub, monitoring Responsible: Baseline: 0.
Services system & coordination and Expertise & Data Target: Y1: 20.
infrastructure Management workflow | Services Services Hubs WP &
provided (i.e., ELSI, IPR, regulatory, Task leaders, and
methodology, etc.) by the integrated Coordination team.
expertise infrastructure | Number Assessment
frequency: yearly.
OO3 NMGs created/ International Capacity Alignment Responsible: Baseline: 4.
functioning workstream (WPs) reports & ERDERA International Capacity Target: Y1: 14.
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monitoring system | Total number of Alignment WP and
NMG operational | Number Task Leaders.
Assessment
frequency: Y1 and
Y2.
OO3 Interactions/projects International Capacity Alignment Responsible: Baseline: 0.
with non-EU workstream (WPs) reports & ERDERA International Capacity Target: Y1: 1.
entities monitoring system | Total number of Alignment WP and
interactions (e.g., good practices, Task Leaders.
harmonisation)/projects with Assessment
International legal entities | Number frequency: yearly.
OO4 Capacity building Data & Reports from Workstreams Responsible: Baseline:
Education and Training & ERDERA ERDERA monitoring Historic data
monitoring system | Number of task leaders in from EJP RD :
researchers/stakeholders having coordination with 2500-3000 per
benefited from upskilling activities training leaders & year. Target:
(through training, mobility, and access contributors. Y1: 4640.
to infrastructures) | Number Assessment
frequency: yearly.
OO4 Funding invested ERDERA monitoring system & Responsible: Baseline:
into capacity coordination and Management ERDERA Historic data
building activities workflow, ERDERA periodic reports | Coordination team & from EJP RD :
Total Funding committed for training, ERDERA monitoring 6. M€ (overall
mobility, and access to infrastructures | task leaders. budget for
Million € Assessment Training &
frequency: yearly. education
activities).
Target: Y1:
commitment
every year of
1.2M.
OO5 Expansion to new ERDERA monitoring system & Responsible: Baseline: 94
stakeholders coordination and Management ERDERA beneficiaries in
workflow | Number of new stakeholder Coordination team & EJP RD, and 152
(by category) involved with ERDERA ERDERA monitoring beneficiaries +
after launch | Number by category of task leaders. 19 associated
stakeholders Assessment partners in
frequency: yearly ERDERA.
Target: Y1:
+10.
1.3. Correspondence with part B of the proposal
The 1st AWP of ERDERA is fully aligned with the scope and challenges of the Partnership as presented in part B.
To that end, the AWP recalls the State of the Art and Methodology underpinning each WP and precises how the
activities of Year 1 fit in the overall strategy and actions of each WP.
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2. Annual Work Programme Activities
2.1. Annual Work Programme
2.1.1. Structure of the Annual Work Programme
The Annual Work Plan is organised in 25 Work Packages fully aligned with the Description of Action (Part B of the proposal).
The following figure shows the overall structure of ERDERA:
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2.1.2. Timing of the different programmed activities and their components
Figure 1. Collapsed view of Year1 Deliverables and Milestones (high resolution picture)
Below, the Gantt for the Year one:
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2.1.3. Detailed work description
2.1.3.1. Description of each set of programmed activities and the relevant work
package
Table 2.3.a: Annual Work Programme Activities for each set of activities:
The description of each work package encompasses state-of-the-art and methodology sections.
The indicated participating organisations encompasses partners for which specific person-
months were allocated as well as other contributors (Beneficiaries and Associated Partners
participating in-kind and thus with no indication of person-months)
Set of Activities 1 Start Date or Starting M1: September 2024
Number Event
Set of Activities Coordination & Management
Title
Short name of INSERM CVBF FGB (23) TEAMIT EURORD HRCI RDI (34)
participant & _IT-GGB (50) (2) IS (26) (135)
(No) (1)
Person Months 90 6 12 12 4 1.8 1.8
Short name of AFM (30) GA UK WDO CSO- CE (47) TEKKAR MSW
participant & *(168) (120) MOH (49) E (106) (137)
(No)
Person Months 2.8 1.8 1.8 6 18 28 15
Short name of ANR (4) DLR (3) ZonMw AICIB AUMC VULSK DDF
participant & (7) (32) (20) (27) (51)**
(No)
Person Months 1 1 1 1 1 1
Start month M1 End month M12
*Associated partners providing in-kind contribution
** Beneficiaries providing in-kind contribution
State of the art behind this WP
The state of the art behind the coordination and the management of the ERDERA project is deeply
rooted in the successful precedent set by the European Joint Program on Rare Diseases (EJP RD), also
coordinated by INSERM_IT-GGB. Indeed, EJP RD constituted at its launch a major milestone as a
prime example of Member States working together in a coordinated manner and on a more integrative
and cross sectorial approach to tackle health challenges related to rare diseases. From this perspective
and following the EJP RD, the ambition of the ERDERA project is to build on the successes of the
EJP RD and provide solutions to address the key R&I bottlenecks identified that hinder the effective
development of better diagnostics, therapies and research-enabled care in the field of R&D. Building
upon the invaluable experience gained during the EJP RD project by the INSERM coordination team,
the ERDERA project aims to seamlessly continue and expand upon the effective coordination and
management practices. The EJP RD served as a pivotal learning experience, offering invaluable
insights into orchestrating large-scale, international research collaborations focused on rare diseases.
The ERDERA project is committed to not only preserving but also enhancing the effective
coordination and management practices that were instrumental in the success of the EJP RD project.
This evolution is vital given the ever-evolving landscape of rare disease research, the increasing
complexity of international research initiatives and the ambitious of the ERDERA, going further than
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EJP RD.
INSERM, the ERDERA coordination institution, with its proven track record during the EJP RD
development and lifetime, will once again take the lead in guiding ERDERA towards its objectives.
With its rich history of efficiently managing diverse research efforts and fostering seamless
collaboration among multidisciplinary teams, INSERM brings a proven track record that instils
confidence in the ERDERA consortium. The experience, expertise, and dedication of INSERM will
serve as the cornerstone for ERDERA's coordination and management strategy, ensuring that the
project continues to meet and exceed its ambitious objectives in the field of rare disease research.
Methodology
The methodology approach in the Coordination and Management WP of the ERDERA is characterized
by a comprehensive framework that has evolved based on the EJP RD project's experiences and best
practices. It places a strong emphasis on meticulous project planning, resource allocation, and the
establishment of highly efficient communication channels. Project planning involves the development
of clear objectives, milestones, and timelines, ensuring that each aspect of the ERDERA partnership
aligns with its overarching goals. Resource allocation is executed with precision, considering the
diverse needs of the research teams, from funding and equipment to expertise and personnel. This
meticulous allocation strategy optimizes the utilization of resources and promotes synergy among
consortium members.
Building on the lessons learned from EJP RD, INSERM coordination team has surrounded itself with
organisations that are experts in their fields to handle the cross-functional and strategic activities that
make up this W “Coordination and management”.
Objectives
The main objective of this WP is to provide the necessary support for efficient management and
coordination of the EU Institute for Rare Diseases. More specifically, in Year 1 of the ERDERA,
WP1 will:
• Ensure appropriate day-to-day management including financial administration (budgeting,
planning, accounting), Grant Agreement-bound reporting, data management plan and risk
overseeing and mitigation tactic.
• Develop & provide tools for assisting efficient and impactful governance and strategy,
including decision-making processes, supervision of Patient & Public Engagement and
Involvement (PPIE) and functioning of respective governing bodies (Governing Boards,
Executive Committee, and MAB, etc.).
• Build (based on the already well-established EJP RD system) internal management and
monitoring systems to allow smooth interaction of all project partners, regular internal
communication, and assessment of progress and challenges necessary to feed the decision-
making process, strategy, and sustainability.
• Start the development of an integrated short and long-term sustainability.
• Guarantee the implementation and compliance with relevant ethical standards in all activities.
Description of Programmed Activities
T1.1. Day-to-Day management and coordination (M1-M12) TL: INSERM_IT-GGB; Contributors:
TEAMIT. T1.1. aligns with GO1-3; SO5; OO3,5.
The coordinator and the Coordination team will be based at INSERM_IT-GGB. The Coordination
Team will consist of the coordinator, several project managers, financial officer, and assistant.
INSERM_IT-GGB, being responsible for scientific, strategic, and financial coordination will be
assisted by TEAMIT to further support contractual obligations, notably the development of annual
plans and reports. Such organization of the coordination office is based on the already bulletproof
management office of the EJP RD where, under the responsibility of the coordinator, highly qualified
project managers directly accompany partners in specific workstream/activities and closely collaborate
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with administrative and financial as well as communication officers to ensure smooth project running
and timely problem-solving.
In more detail, the coordination team will provide during Year 1 of the Partnership, support and
the overall management structure in: (1) Liaising with the EC; (2) Supporting The decision-making
and linkage of project components; (3) Monitoring of the activities and timely preparation and
submission of Deliverables and completion of Milestones; (4) Coordinating of the preparation and
submission of the periodic Annual Progress Reports, AWP, technical and financial reports and Final
Report; (5) Overseeing risk evaluation and mitigation; (6) Daily project functioning and internal
communication by setting up specific tools including MS Teams infrastructure, with a library for
document management and sharing, events calendar, internal bulletin, etc. as well as of the relevant
monitoring system.
ST1.1.1. Coordination & support with and across WPs STL: INSERM_IT-GGB; Contributors:
TEAMIT
In addition to the continuous assistance to the project partners by the coordination team and to
efficiently manage the support and swift communication within and across WPs, the Partnership will
rely on two main bodies: the Operating Group (OG) [composed of the WS Leaders, together with the
Coordination team], and the Executive Committee (ExCom), [composed of the Coordination team and
all WP Leaders].
The OG will meet through regular conference calls (every 3 weeks), staring from M1, to discuss topics
of (operational) relevance and ensure adequate reactivity in case of urgent situations and risk
management. As such, the OG will be the place for regular update on the activities in all WP to ensure
alignment as well as reporting any bottlenecks to the Coordination. Furthermore, the OG will
contribute to the preparation of the ExCom meetings.
The ExCom will meet remotely every 3 months and, whenever relevant, jointly with the MAB (or
other Advisory and/or Governance body) to report on the advancement of the activities, discuss the
priorities and work on the development of the AWP. ExCom will be the forum to discuss details of the
Partnership progress and to initiate the discussion on priorities and development of the AWP, including
resource utilisation. The first (kick off) meeting of the ExCom is foreseen in M1 of the project.
ST1.1.2. Ensuring contractual obligations STL: TEAMIT; Contributors: INSERM_IT-GGB
The work will focus on the planning and reporting related to the contractual obligations included in
the Grant Agreement. The development of the Annual Progress Report and AWP will follow a
structured process managed by the ExCom, in agreement with the General Assembly and submitted to
the vote of the Governing Board (GB). ST 1.1.2. Leader will be responsible for setting up reporting
mechanisms, supporting, and training Beneficiaries on reporting procedures as needed and
coordinating the production of reports. The annual progress reports will be drafted by each WP leader
and compiled by the respective WS leaders. TEAMIT will be responsible for the collation of the single
progress reports to be complemented by the outcomes of the monitoring and progress against
established KPIs.
For the development of the AWP, the ExCom will be asked to propose tasks and deliverables aligned
with: (i) Recommendations provided by the MAB and GB based on their judgement of the Partnership
progress as well as strategic priorities included in the SRIA; (ii) Internal consultation for each WP and
in line with their implementation status and the overall Partnership planning (initial proposal).
This will include an update of the budgetary plan and the proposal for the redistribution of funds and,
if needed, new responsibilities. The full AWP draft will be presented to the General Assembly and
open for its comments before having its final presentation at the face-to-face meeting with MAB and
GB. The finalized version of AWP will be validated by the GB before sending to the Commission.
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In the Year 1 of the ERDERA, it is planned to deliver the AWP for the Year 2 in M9 while the 1st
annual progress report will be delivered in Year 2. INSERM will be responsible for the administrative,
legal, and financial management, and compliance by Beneficiaries. The budget assignment is expected
to be flexible in the framework of rolling AWPs to help in steering efforts in the most productive way.
Thus, INSERM will coordinate the preparation of the financial part of the periodic Annual Progress
Report and AWP. Furthermore, it will manage and coordinate any legal obligation such as
Amendments to the Grant Agreement when required. In detail, the activities of Year 1 will
encompass: (i) Management of the budget; (ii) Preparation and launch of payments to beneficiaries;
(iii) Amendments (if required); (iv) Preparation and follow up of annual financial reports; (v) Financial
support to beneficiaries. Lessons learned from the EJP RD will serve to further improve (already well-
performing as acknowledged by the EC) financial follow up system (e.g. by implementing dedicated
professional tools and their connection to the overall monitoring system).
ST1.1.3. Risk evaluation and mitigation STL: INSERM_IT-GGB
Risk evaluation and mitigation will be followed by the coordination team according to the initial risk
strategy developed for each WP as well as inputs on the progress of activities provided during the
meetings with the OG and ExCom. Furthermore, the monitoring system supporting the progress of the
project (e.g. time to delivery or milestone achievement) will also be used to help in triggering relevant
mitigation measures. Depending on the level of severity the implementation of mitigation measure
may require prior discussion and validation of respective bodies (OG and/or ExCom for low and
medium operational risks or GB for risks that may severely impact the whole project, e.g. breach by
or withdrawal of a partner).
ST 1.1.4. Data Management Plan STL: INSERM_IT-GGB Contributors: DDF
The Partnership will gather and work with diverse types of data, which requires development of a
comprehensive Data Management Plan (DMP) within the first six months of the project. The primary
aim of the DMP is to ensure the accountability and reliability of the data, considering appropriate
intellectual property (IP) protection and compliance with ethical rules, research integrity standards,
FAIR principles, and GDPR regulations. Once finalized, the DMP will be reviewed and agreed upon
and signed by all the Beneficiaries.
The DMP will encompass several key aspects:
• Handling of research data (and other outputs) during and after the project.
• Types of data to be collected.
• Application of data methodology and standards with input from the "Data Services Hub"
stream.
• Modes of sharing and accessing data.
• Data curation and preservation.
The DMP will outline the scientific, technical, and organizational details for data and metadata
collection, storage, retention, accessibility, privacy, confidentiality, destruction, quality assurance,
backup, and resource allocation. It will comply with all relevant national and EU laws regarding the
protection of personal data, and confirmation of compliance will be sought from all ERDERA partner
organizations. The DMP will also include permissions to collect, use, reuse, and merge data from
relevant authorities or primary owners/data controllers for activities such as T9.1. To develop the DMP,
the Data Stewardship Wizard (DSW) will be used, which is a recommended planning tool by the
Horizon Europe Program Guide. DSW allows for the assessment of the level of FAIRness of the
research DMP, enabling continuous improvement in data handling throughout the Partnership and
providing guidance to external users, thereby enhancing the reproducibility of research results. These
improvements are crucial for successful collaborations with partners and effective IP management.
The DMP will cover the management of Research, Development & Innovation data generated during
activities related to ATMPs (Advanced Therapy Medicinal Products) development and manufacturing.
This encompasses a wide range of data/output types, including target validation, engineering and
profiling data, as well as late-stage product development data such as characterization, process
analytics, and quality control (QC) testing. Additionally, new data will be generated/collected in the
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context of performance assessment, capacity evaluation, infrastructure assessment of involved
partners, use case/proof of concept studies, workshops, training/info sessions, scientific meetings,
brokerage events, strategic meetings with stakeholders, and key performance and output evaluation.
The Data Management Plan is expected as the D1.1 by the end of M6.
The generated data will adhere to ethical and data protection regulations, and efforts will be made
towards digitalizing research activities, including the use of standardized digital tools for defining
workflows and procedures, ensuring wide sharing and usability of research outputs across the
consortium. To ensure explicit provenance and reproducibility, all records will be accompanied by
supporting metadata based on the ISA metadata standard. Enriching the metadata with open ontologies
provided by EBI's Ontology Lookup Service will be considered to optimize data interoperability.
Electronic data/metadata will be stored on the ERDERA data platform for collaborative purposes,
secure distribution, progress tracking, deliverable identification, and identification of IP potential. The
DMP will also cover privacy by design and procedures to mitigate potential reverse engineering and
unforeseen disclosure. The IT architecture will undergo risk assessment to ensure security, ethics, and
privacy. Public content, such as public deliverables, workshops, training/info sessions, scientific
meetings, and brokerage events, will be openly shared on the Partnership website. The DMP will be a
dynamic document, regularly updated to incorporate inputs and evolution from engaged partners and
the RD communities. The ERDERA will leverage partners' experience in projects with similar DMP
requirements, particularly those involved in the Data services Hub stream, contributing to the EC's
open science agenda by publishing FAIR Research Infrastructure data resources, making tools and
workflows interoperable and reusable, and setting policies, specifications, and tools for data
management in scientific research publications
The Partnership aims to establish an Open Innovation ecosystem that aligns with the Responsible
Research & Innovation (R&I) goals set by the EC. Introducing Open Science practices as a standard
for pre-competitive research endeavours will propel scientific progress while maintaining commercial
potential to encourage further innovation in RD research and related R&I activities within the
Partnership IP management strategy. The partners will collectively agree to incorporate Open Science
processes and methodologies from the beginning through the Consortium Agreement. Once vital IP
rights/interests, such as patents, patent applications, or protected know-how, are secured, the outputs
(scientific publications, data, software, models, algorithms, monographs, conference proceedings,
designs for materials, devices, and methods) will be made available through open access, adhering to
the principle of "as open as possible as closed as (strictly) necessary." Publication of these outputs will
undergo a comprehensive review process within the consortium, as agreed upon in the Consortium
Agreement, to ensure confidentiality and protect the legitimate interests of all partners.
It is worth noting that private collaborators, who play a crucial role in the Partnership, might hesitate
to participate in the innovation process if there is no intellectual property (IP) protection to safeguard
their investments and market position. Therefore, while protecting IP rights is essential for new
knowledge generated through translation and applied research to retain its commercial value, early-
stage fundamental discoveries should be openly accessible to promote scientific advancement.
Whenever feasible, the Open Research Europe platform will be utilized for publication, and efforts
will be made to avoid paywalls in field-relevant journals by utilizing various publishing routes (green,
gold, or diamond). Publications, including newly developed method protocols, will be shared at an
early stage through pre-print repositories like BioRxiv to enable transparent feedback before journal
submission. Prominent high-visibility journals in the RD field will be chosen to disseminate the
research findings. Publications will be shared, promoted, and advertised on the Partnership website
(through news feeds, blogs, newsletters) as well as on relevant social media platforms (Twitter,
LinkedIn, etc.) to encourage future citations and enhance the global visibility.
To prioritize transparent disclosure and accessibility of data, processes, materials, and methods for use
and replication by the broader research community, the Zenodo open repository and other specialized
directories will be utilized. Scripts and codes generated throughout the research will be published on
GitHub to facilitate systematic sharing and collaboration and promote the application of newly
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developed computational methods among the partners. Once fully developed, these scripts and codes
will be made publicly available and, if applicable, compiled into open-source software for
bioinformatics, such as Bioconductor. Other Open Science practices, including the early and open
sharing of research negative outcomes and preregistration, will be assessed in the context of
establishing an IP management strategy, working closely with WP2, to maximize the impact of the
ERDERA.
T1.2. Governance & strategy (M1-M12) TL: INSERM_IT-GGB; Contributors: TEAMIT,
EURORDIS, GA UK*, HRCI, AFM, WDO, RDI. T1.2. aligns with GO1-3; SO5; OO3,5.
The Governance and Strategy activities will be supported by a specific set of bodies as indicated in
section 3.2 of the proposal. While the execution part will involve mostly the Coordination team, OG,
ExCom, and General Assembly, the governance will be structured around the GB and the Board of
Funders. The first one will provide the political and strategic steering within the frame of the
Partnership to ensure coherence between Partnership activities and relevant
European/national/international policies and priorities and facilitate the uptake of the Partnership
results and outcomes and reflect on sustainability. The latter has a specific and “limited” role in the
context of funding activities of the Partnership that are based on the provision of funding to third parties
(Joint Transnational Calls, Networking support scheme and Clinical Trials Call). The strategic process
will involve additionally the MAB and the National Alignment Board, the latter being specifically
important for the implementation of measures related to the active participation of countries and
widening measures.
To keep the Partnership on track while acknowledging the flexibility necessary to adapt its strategy to
the evolving scientific and policy circumstances and to allow on timely deployment of revised agendas
and activities, the governance and strategy driving processes must be dynamic and agile. This requires
implementation of clear processes, tools and regular meetings to support the work of governing and
strategy bodies.
The Coordination will assist in the constitution of all governing & strategy bodies by launching the
official constitution processes, collecting nominations, providing terms of reference to newly selected
members and storing confidential information. It is expected that all governing and advisory bodies
should be established by M3.
ST1.2.1. Support to governance and advisory bodies STL: INSERM_IT-GGB; Contributors:
TEAMIT
The Coordination team (INSERM_IT-GGB) will assist all governance and advisory bodies by
providing the necessary tools (e.g., secured space for exchange and document storage, voting system),
documents (required analyses, working documents, relevant drafts) and prepare the agendas. It will
collaborate closely with the leaders of the Monitoring Task to provide regular or “on demand” updates
on the performance of the Partnership or policy analyses that may support any strategic and/or policy
discussions the GB of MAB would like to initiate. On the other hand, the Coo and executive bodies
will have the possibility to propose subjects for discussion with the governing & advisory boards.
It is expected that the GB will meet at least twice during the 1 st year and the MAB once every four
months. Within planned meetings the Governing Board shall meet in person at least once during
Year 1, among others, approve the AWP of the following year. Ideally, this in person meeting would
be combined with the MAB and ExCom face to face meetings.
The organisation of the yearly in person meetings will be supported by TEAMIT. This will include
identifying dates, selection of the venue, logistics, agenda preparation, contacting speakers, sending
invites, minutes, etc. To ensure that national/EU activities, strategies, and needs are considered when
taking decisions at the ERDERA level and when designing the AWPs, the Coordination team will
ensure that the National Alignment Board (NAB) will gather at least once during the Year 1.
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To guarantee the agility and responsiveness, it is expected that the MAB, being the main advisory body
of the Partnership, will be composed of a maximum of 20-25 external experts representing different
types of stakeholders and horizons. However, when relevant, the consortium may request the assistance
of MAB that goes beyond its core expertise. In such cases, the MAB will have the possibility to initiate
the Thematic Groups and invite additional experts to advise on the requested topic. Some topics of
interest have been already pre-identified as they are considered of primary importance to advance on
some of the activities of the Partnership (namely clinical trials and therapy development):
• Addressing the challenge of underserved diseases areas (white spots) from a sustainability
perspective by investigating the full development pathway. What can be improved or renewed
within existing models to make development within these white spots more sustainable? What
policy changes could occur to ensure investments in areas of higher risk. How may the
partnership further facilitate the pathway to more sustainable models using its advantage of
brining academia, industry, patients, and public funders as co-leaders?
The modalities for the recruitment of additional experts will be agreed by MAB. However, the model
used in IRDiRC Task Forces, where open call for experts is published and final choice respects
expertise, geographical and gender balance, could be an example.
In addition, if requested, the Coo will support the governing bodies (e.g. Board of Funders) in the
organisation of public consultations to collect inputs on topics of relevance for the Partnership (and
that require such input) e.g. calls for projects, key strategic orientations linked to the revision of the
SRIA. This will be done in collaboration with the PPIE group to guarantee that the format, timelines,
and response modalities are inclusive and adapted to people living with rare diseases.
Update of the SRIA
A structured and collaborative process will be implemented to ensure that the SRIA remains relevant,
aligned with changing goals and priorities, and responsive to emerging challenges and opportunities.
Stakeholders including, but not limited to researchers, patient representatives, policymakers, industry
representatives and relevant experts will remain engaged in the SRIA Task Force and aligned through
the organization of workshops, focus groups, and surveys to gather input on the current SRIA's
strengths, weaknesses, and areas for improvement. The alignment with national, regional, and
international research and innovation policies and strategies will continuously be sought with the help
of the Governing Board.
A comprehensive analysis of the changing technological, economic, social, and environmental
landscape will be conducted as part of the environmental scan, with the help of the MAB. It will seek
to identifying emerging trends, challenges, and opportunities that may impact the SRIA's relevance
and effectiveness. The SRIA will also undergo a SWOT analysis to identify gaps or shortcomings in
the existing agenda that need to be addressed.
The review of previous performance will be accomplished through the assessment of the progress made
on the goals and objectives outlined in the current SRIA version, using the ERDERA monitoring
framework, identifying areas where targets were met, exceeded, or fell short.
Considering the insights from the above-described stakeholder engagement, environmental scan, and
SWOT analysis, objectives may be added or updated to be made clearer and more measurable, and
priorities would be defined based on the identified trends and challenges, focusing on areas with high
potential impact.
The process of updating the SRIA will always consider alignment with funding sources and
government policies as well as the agenda integration with relevant funding programs, grants, and
initiatives.
The artnership’s communication strategy will ensure the information of stakeholders about the
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updated SRIA, its goals, and the rationale behind the changes through various channels, such as
websites, workshops, conferences, and publications. Moreover, a flexible and open feedback
mechanism will be established to allows stakeholders to provide ongoing input and insights as the
updated SRIA is implemented.
ST1.2.2. Patient and Public Involvement & Engagement (PPIE) STL: EURORDIS; Contributors:
GA UK*, HRCI, AFM, WDO, RDI
Patient and public involvement, engagement, and participation (PPIE) is embedded in the WP
Coordination to ensure that PPIE will be achieved throughout the ERDERA programme and
governance structure, to ensure transparency, efficiency, patient-centricity and to make sure the
Partnership research activities are - and remain - led by patients' needs. The PPIE group will encompass
all representatives of participating patient organisations all over the ERDERA and will be supported
by an operational team of patient organizations' representatives (with representatives from
EURORDIS, GUK, HRCI, AFM, WDO, RDI). The rules of participation and mandate of the PPIE
group will be defined by M . The coalition of patients’ groups and organizations involved in the
ERDERA will rely on key principles such as accessibility, inclusion, diversity, and concertation.
The PPIE group will act as the advocacy arm of the Partnership to advance the cause of rare diseases
research and improve patient outcomes. By M6, the PPIE group will have developed a framework for
public & patient engagement encompassing all WSs. It will serve as a guidebook and be integrated in
monitoring procedures. This will build upon existing frameworks, fostering already well-known
established guidelines in PPI/PPE/PPIE and further refining any specific guidelines related to clinical
research. During the first months (M1-M12) of the project, the PPIE group will support more
specifically the following activities:
• Act as a hub to answer any questions or enquiry from patients not involved in the ERDERA.
• Collecting needs and expectations from patients' groups regarding the ERDERA.
• Identifying patients and patient representatives to take part in research tasks,
proposals/project reviews and any other activities requiring a direct involvement of patients.
• Onboarding and supporting all patients and representatives involved in the Partnership
activities by applying proven methodologies in engaging patients’ groups in research and by
building trusted patient partnerships in research.
• roviding a specific support to patients and patients’ groups onboarding the CRNs as well as
a continuous support to all patients’ groups across artnership activities.
• Linking all the aforementioned activities to the WP-Education & Training and vice-versa.
• Fostering links with patients’ groups and networks who would benefit from the artnership
research activities (e.g. UDNI).
• In connection with the WP2 (Communication), developing any relevant resources for patient
and families, regarding CRNs.
• Supporting the work of the coordination in developing surveys – when and if relevant - and
engaging outside the artnership’s already established network.
T1.3. Monitoring of the Partnership activities (M1-M12) TL: TEKKARE, CVBF; Contributors:
INSERM_IT-GGB, ELS, MSW, CSO-MOH, ANR, FFRD, DLR, ISCIII, ZonMw, LMT, TEAMIT. T1.3.
aligns with GO1-3; SO5; OO3,5.
When monitoring the Partnership, effectiveness should be viewed as a non-linear, multi-faceted
composite which changes in space and time. The monitoring activity to be developed within the
Partnership must respond to several specific needs:
• At the level of the Partnership as a whole (level 1), the monitoring should enable the follow
up of:
o Specific KPIs: (i) KPIs defined within Horizon Europe for all funded projects and
contributing to the Key Impact Pathways, (ii) Common indicators to be measured by
all Partnerships and contributing to the Biennial Monitoring Report, (iii) KPIs defined
in the Partnership’s SRIA.
o On demand analysis, especially related to the provision of information on participation
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of /contribution of/benefit to individual countries.
o Overall achievement of objectives and impacts.
• At the level of specific WPs (level 2) it should enable the follow up of WP performance (timely
delivery, achievement of milestones, scientific and administrative performance, etc.).
• At the level of specific activities (level 3), for example: follow up of funded projects, of the
networking scheme, trainings, outputs of the Technology Accelerator or the CRN, it should
provide the tools for the follow up and analysis of results.
• At the level of the coordination (level 4), governance and strategy it should enable the
collection and analysis of data required to support the decision-making processes and building
of the sustainability plan by highlighting where and how value and impact are created.
The Monitoring Framework was defined during the preparation phase of ERDERA. It consists of 25
KPIs (9 short term, 10 medium term and 6 long term) linked to the ERDERA PSIPs with well-defined
baselines, frequency and targets.
During Year 1, TLs will collect and analyse data according to the defined monitoring framework and
based on the four level of monitoring:
Level 1 - ERDERA as a whole;
Level 2 - WPs performance;
Level 3 - monitoring of funded projects;
Level 4 - governance and strategy.
During Year 1, specific protocol for each KPI and their data needs will be designed in order to
organize data collection (manual, automated, semi-automated. This work will result also in a list of
components required to establish the monitoring system and a detailed work plan.
Validation of the Monitoring IT tool and processes will be performed.
ST1.3.1. Building the monitoring system STL: TEKKARE; Contributors: ELS, INSERM_IT-GGB,
CVBF, MSW Data Hub partners
To respond to these needs, TEKKARE, jointly with contributing partners and in collaboration with
other relevant WPs (e.g. Data Hub) will build the monitoring tools maximizing the use of pre-existing
infrastructure, connecting to relevant APIs and products to provide a cost-effective and cost-efficient
software to accelerate and automate the collection of monitoring data while minimizing technical and
maintenance overheads. To this end, the monitoring system will be composed of the Back-office tools
and purpose-oriented Monitoring Dashboards. For the back-office monitoring tools, the usage of open-
source software Directus or similar to reduce cost for backend development will be privileged. It will
also allow on easy integration of forms (surveys) and online reports with result data directly streamed
to the back office. To ensure the most pertinent and useful collection of data and organization of
metadata, TEKKARE will collaborate with Data Hub partners to design the most pertinent data model.
It will also deploy streaming of pen data and TEKKARE technology (ref) to connect “internal”
Partnership data (e.g. Microsoft graph - exploiting specific data of the Microsoft Teams collaborative
platform, Data Stewardship Wizard) with “external” resources (like Elsevier dev portal, TEKKARE
public data APIs and others) whenever contextualization in more global RD ecosystem is needed (e.g.
compare the performance or provide external information to better define impact of the Partnership)
to support decision-making and/or prioritization. Furthermore, to facilitate the monitoring and
coordination of activities, GDPR-compliant technologies like posthog will be used to deploy digital
activity monitors allowing on pre-automated, real-time data watch, analysis and generation of alerts.
The outputs of Partnership activities and their analysis that is processed and structured information
based on the inputs generated from the resources mentioned above, will be exposed through an API
for rapid development and visualization through dedicated (customised according to the users)
Dashboards. To limit costs before developments and to initiate the project with high fidelity mock-up
aligned with the user expectations on a User eXperience (UX), designer will be assigned by
TEKKARE. The foreseen thematic Dashboards, guided by the Partnership needs collected during the
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preparation of the programme, may include research papers, reports activity, country overviews,
aggregations of online reports, clinical trials activity, etc.
The aim is to create awareness on the results and the progress of the Partnership; automate monitoring
of the activity as much as possible with adapted tools while ensuring great user experience; and provide
a sustainable framework with the set of monitoring tools to serve the RD research ecosystem. To this
end, the design of the monitoring system will provide a sustainable model (brainstorming engaging
future users to prototyping before development to avoid waste of efforts and means a flexible
customization and deployment) for further expansion and creation of Knowledge Hub open to external
users.
On year 1, TEKKARE will organize collection of Open Data that is helping to automate monitoring.
More specifically TEKKARE will collect and organize clinical trials data and expose it through APIs
to provide integration of this data into dashboards and reporting tools. TEKKARE will also deploy the
monitoring portal on Year 1 after 3 months period prototyping it with the monitoring team to ensure it
suits the need. The first dashboards will be deployed to the portal after the deployment of the portal is
successfully tested (5-6 months after. Priority will be given on data that is already measurable and on
tools that help collecting more data and create link between datasets: i.e. link a project from consortium
to a publication / clinical trial or other.
On Year 1, TEKKARE will also create data model (entity relationships diagrams, data mapping, API
specifications) and data flow diagrams necessary to automate and document the monitoring system.
Dashboard and tool prototyping with high fidelity mock ups will be done also in order to align with
stakeholders before any major development is done. Documentation will also be written in order to
define how data should be collected for the different WP leaders in order to integrate successfully to
the monitoring system. Actual development of the monitoring system, data pipeline, connectors will
start on second part of Year 1. Connection with registration and participants forms data will allow to
produce the first dashboard displaying the start of activity of the consortium.
ST . . . Monitoring of artnership’s activities STL: CVBF; Contributors: INSERM_IT-GGB, CSO-
MOH, ANR, FFRD, DLR, ISCIII, ZonMw, LMT, TEAMIT, FTELE
CVBF will support the coordination in the overall management of the monitoring activity and will be
responsible for the monitoring level 1 (Partnership as a whole). This will encompass collection of data
related to the pre-defined KPIs (see above), the analysis and generation of results in the form of
processed data or (when relevant) reports. As stated above, CVBF will be supported by the extensive
monitoring tools as well as by the coordination and all beneficiaries, whenever their input will be
required to facilitate the collection of information.
For the Level 2 (WPs performance) the automation of the monitoring will be maximized by the
integration of data flows from MS Teams collaborative tools and will serve the coordination, the OG
and ExCom for efficient follow up and early risk management.
Level 3, being related to the monitoring of funded projects will be expanded beyond the monitoring
system to ensure close follow-up and interaction with funded consortia. The monitoring of funded
projects (from joint transnational calls and networking scheme) will be done by CSO-MOH and in
collaboration with involved call secretariats from ANR, DLR, FFRD, ISCIII, and ZonMw. It will be
carried out through online reports (provided through dedicated tool in the monitoring system) that will
be filled out by the coordinators of the funded projects and reviewed at a midterm monitoring meeting
in which experts will be invited to evaluate the progress of the funded projects. Each online report will
be composed from the narrative description of the achievements and set of questions including specific
indicators that will feed, among others, the main KPIs of the Partnership. The indicators, together with
the reporting tool, will allow for follow up and monitoring of various aspects of the projects and the
calls such as scientific progress, collaborations, RRI/ELSA measures, etc. In addition, a midterm
monitoring meeting in which the coordinator (or another representative) of the funded consortia will
present the progress of their projects, will be organized for each call. During the midterm meeting, the
progress of the projects will be evaluated by scientific and patient experts who will provide feedback
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to the coordinators and the funders. It will be also used to facilitate the contact between applicants and
all Partnership support services, including Data Hub, mentoring and accelerator services. r
All JTC funded projects of the ERDERA (and ongoing projects from EJP RD) will undergo follow-up
and monitoring. During the first 12 months the following related tasks will be carried out:
• Refinement and update of the monitoring process for the JTC funded projects.
A list of indicators was developed and applied to design the template for periodic and final
reports of funded projects in the framework of EJP RD. The list will serve to establish and
refine indicators for ERDERA-funded projects and adapted to fit the specifics of the JTC2025
call topic. Furthermore, the process of the follow-up and monitoring will be evaluated, as it
has been done in EJP RD (considering the lessons learnt from the process done during the EJP
RD timeframe) and adapted to be more efficient and suitable to suit the goals of this process
in the ERDERA. An appropriate timeline will be set for the monitoring process according to
the ERDERA JTC funding timeline and clear operating procedures will be defined. MSW will
implement Polaris OS as a grant management platform for calls for projects and monitoring
of funded projects. The platform will be customised (forms, workflows, interfaces, analytics...)
to stick to the specifics of the project.
• Follow-up and monitoring of EJP RD funded projects.
As a continuation of activities between EJP RD and ERDERA and important follow up of
funded research, the monitoring of the ongoing projects from EJP RD will be continued during
M1-M12 by collecting the annual and final reports from the unfinished projects that were
funded under EJP RD calls: JTC2020, JTC2021, JTC2022 and JTC2023. The midterm
monitoring meeting of JTC2022 will also be carried out during this period.
• Analysis and mapping of the outcomes of the EJP RD JTC Calls and funded projects.
To understand the impact, sustainability, and exploitation of the results from the research
supported by the JTCs funding activities and contribution to the RD field, it is important to
perform the impact and exploitability analysis at the level of each call and each funded project.
Granted networks grantees will have to complete a short online report within 2 months after
their networking event has ended. These reports will be read, analysed, and used for
communication purposes. During Year 1 of the partnership the process of the monitoring of
the networking events will be refined and updated according to the many lessons that were
learnt during the run of this scheme in EJP RD.
Finally, for the Level 4 (governance and strategy), it is expected that data integrated from other levels
and complemented by external resources (mentioned above) will serve the coordination to generate
information that will serve decision-making processes, support the needs of the GB and MAB, as well
as help in feeding dissemination and communication actions (e.g. publication of contents summarizing
the outputs/performance/impact) of the Partnership.
Resource Allocation will be monitored in WP1. The budget share contributing to each Operational
Objective and mapped to Specific Objectives and General Objectives will be determined at the start of
ERDERA. The resource allocated during the implementation of the Action will be monitored against
performance (KPIs)
The Partnership Specific Impact Pathway (PSIP) links the Specific Objectives to the overarching goals,
it results from the aggregation of links identified and agreed by the SRIA TF.
During Year 1, CVBF will collect data to monitor the Partnerships as a whole based on the defined
Monitoring Framework. This will encompass collection of data, the analysis and generation of results
in the form of processed data or (when relevant) reports. In close collaboration with TEKKARE, CVBF
shall provide the monitoring data not automatically collected by the monitoring tool. As stated above,
CVBF will be supported by the coordination and all beneficiaries, whenever their input will be required
to facilitate the collection of information.
T1.4. Sustainability strategy (M1-M12) TL: CE; Contributors: INSERM_IT-GGB, TEAMIT. T1.4.
aligns with GO1-3; SO5; OO3,5.
The sustainability strategy is a continuous process that encompasses both short-term and long-term
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vision for the EU Institute for Rare Diseases. This means, on one hand, regular monitoring and
provision of support related to the IPR and generation of any results that may require specific legal
support and that will impact long-term sustainability. On the other hand, building the strategy and
processes leading to future transition from the partnership to the sustainable institute with own legal
status.
ST1.4.1. Support to IPR management and exploitation of results STL: INSERM_IT-GGB
In Year 1, as a first step the list of deliverables will be used to perform the necessary identification
and quantification of joint results. This will result in an inventory of exploitable outputs that will be
regularly updated. Results will comprise technologies developed, tools, services, as well as
communication and training materials created and regulatory and standards guidelines which may
constitute future services of the Institute. To ensure timely IP strategy management (complementary
to the partners’ tech transfer services) a dedicated support, provided by a small IPR support group
composed of IPR experts of different partners, will be proposed (on demand) to facilitate the portfolio
assessment. The group will be constituted by M6. This activity will be closely connected to the long-
term sustainability sub-task as well as to the monitoring and communications to guarantee that
exploitable results are properly acknowledge in sustainability planning and, whenever possible, openly
disseminated.t
Furthermore, it is important to underline that partners will enter into a Consortium Agreement (CA),
latest by the time of the start of the project (M1), which will address ownership, IP and access rights
to Background and results of the project. Thus, the above outlined strategy will always be subject to
conformity with the terms of such Consortium Agreement. The CA will specify the definitions of pre-
existing knowledge and joint invention, the allocation of the IP rights associated to the results
generated within the project, the rights for the partner entities and other entities such as their affiliates
to use and/or exploit the results, as well as the rules governing publication and dissemination of the
results and appropriate confidentiality terms. Based on usual practices in collaborative research,
partners will define the IP policy to preserve their common and individual interests. Partners will share
their intellectual resources and their background IP as needed for the implementation of the Partnership
and for research use of someone’s own results.
ST1.4.2. Long-term sustainability planning (phasing out) STL: CE, Contributors: INSERM_IT-
GGB, WDO
The guiding principle is that the whole Partnership is greater than the sum of its parts, and the
combination of specific services and activities constitutes the core added value of the Institute. Thus,
in the first step, Copenhagen Economics, together with the coordination team and using input from the
consortium and its advisory and governing bodies, will define the structured vision of the ERDERAs
future entity. This vision will build on the findings of the Sustainability Report previously delivered
for the EJP RD. Formulating the end goal at the beginning, will create a common goal that will be used
as a guiding star for the workstreams and then annually updated as the project evolves.
In collaboration with the Monitoring and Strategy tasks, and IPR group, CE will use the inputs from
the monitoring system, on progress of individual workstreams and results, to analyse the data to see
where value is created and to provide advice to decision-makers on the evolution of the Partnership
and possible reallocation of resources. Data driven decision making will increase the quality of
decisions and improve success of the project as a whole.
The translation of the partnership to the final business case will be made based on the mapping of
relevant business models and proposition of a most suitable legal setting (building on eBrains or
EuReCA models) that corresponds to the federated nature of the future institute. The connections
between each of the three services – support services infrastructure, CRN and support for research
funding and calls - and the Partnership as a whole will be mapped from content and administrative
perspectives. This will inform decisions about the place of each service within the institute’s ecosystem
and help in defining incentives and governance framework for its members, as well as financing
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aspects.
The business case will need endorsement from the key stakeholders, including the EC and Member
States. Demonstrating the achievements of previous partnership and documenting value and use cases
of the future services will be critical to gain political support for the Institute. CE will support
coordination team in this effort. During Year 1, CE will carry out the following activities:
• Defining the long-term vision for the sustainable partnership.
CE will define together. with coordination team, using inputs from the consortium and its
advisory and governing bodies, the structured vision for the sustainable entity. This will
involve analysing factors that enable and inhibit future sustainability and proposing a
monitoring system to help achieve the defined outcomes. This vision will build on the findings
of sustainability report previously delivered for the European Joint Programme on Rare
Diseases.
• Monitoring the progress towards sustainability.
Building on the outcomes of discussions in point (1) above, CE will develop a method to
analyse information and inputs gathered through the monitoring system to provide advice on
the evolution of partnership towards sustainability.
• Mapping of needs and business models.
The focus will be on existing data and knowledge sharing platforms such as eBrains, RDCA-
DATA or EuReCA. CE will examine aspects such as the incentives framework, technological
solutions, governance, and legal entity types. This activity will continue in the second year,
and the results will be presented to and discussed with the governing boards and ERDERA
partners.
T1.5. Ethics compliance (M1-M12) TL: FGB; Contributors: INSERM_IT-GGB. T1.1. aligns with
GO1-3; SO5; OO3,5.
To guarantee and support ethics compliance of all project activities, an internal Ethics Advisory
Group (EAG) will be set up in Year 1 and composed of 3-5 ethics experts delegated by
beneficiaries. At least 1 patient representative will be part of the group. All the activities to set up the
support on ethics issues/concerns raised during the implementation of ERDERA’s actions and its
research activities will be initiated. This will include the ethics assessment and/or follow-up of funded
projects. Different ethics aspects will be addressed according to the Horizon Europe ethics guidance
including but not limited to animal welfare, research with humans, data processing activities,
involvement of children, AI methods, etc. Bimonthly remote meetings and an in-person meetings
(M12) will be scheduled in Year 1. This model has been already successfully implemented in EJP RD.
Moreover, according to the provisions from the European Commission, an Independent Ethics Advisor
(IEA) will be appointed.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 2 Start Date or Starting Event M1: September 2024
Number
Set of Activities Communication & dissemination
Title
Short name of TEAMIT (2)
participant &
(No)
Person Months 24
Start month M1 End month M12
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State of the art behind this WP
ERDERA's communication strategy is firmly rooted in the foundation laid by the European Joint
Program on Rare Diseases (EJP RD). The European Joint Programme on Rare Diseases is recognised
for its efficiency and its impactful approach to communication, and ERDERA recognizes the value of
continuing and expanding upon this tradition. ERDERA WP 'Communication,' is thus aligned with the
communication strategy of EJ RD (EJ RD W “Communication & Dissemination”).
One of the main goals of the EJP RD WP5 is to communicate and disseminate the work from each EJP
RD Pillar and EJP RD itself as a whole. In order to showcase the output of the work done, elements
such as news, events, workshops, or publications were developed as the main items used for
dissemination. Different tools have been used to communicate and disseminate outside from the
consortium including the EJP RD website, social media, newsletters, videos, and a mailing list of
communication managers’ network that continue to be maintained and developed. In addition to these
tools, contribution to events such as the RE(ACT) Congress & IRDiRC Conference has fostered the
dissemination of the EJP RD activities and achievements. The communication and dissemination
capacity at regional and national level have been considered as a high priority during the EJP RD
lifetime, leveraging on EJ RD partners’ potential to vehicle unified information and multiplying the
outreach spread.
By building upon the successful communication framework established by EJP RD and working
closely with the same coordination team at INSERM, ERDERA communication team at TEAMIT
ensures that its communication efforts are not only in line with its parent program but also positioned
to make a significant impact in advancing rare disease research and collaboration across Europe and
the world. This alignment not only strengthens the ERDERA partnership but also bolsters the broader
efforts to address rare diseases on a continental scale.
Methodology
Structured communications (C) and dissemination (D) activities are key to pave the way for future
sustainability of results and outcomes generated by ERDERA. This requires of a sound C & D strategy
that aligns with the Partnerships goals and appropriately targets all key stakeholders that either benefit,
use, interact and/or shape in varying degrees the RD ecosystem. Beyond carrying ERDERA’s voice to
the outside world, WP2 contributes to inform and construct compelling value propositions to ensure,
going forward, the acceptance and uptake of outcomes, thus maximising the impact of ERDERA. With
this end goal in mind, the C&D strategy will seek to:
1. Generate awareness on the new Partnership, whilst continue raising interest in results, services
and tools already made available by EJPRD.
2. Spark attention on activities, calls and new results and resources developed by ERDERA.
3. Ensure broad understanding of the impact of RD on patient’s family and society.
4. Amplify dissemination and acceptance of research outputs, highlighting their soundness,
relevance and potential impact.
5. Facilitate stakeholder engagement that results in meaningful interactions and fruitful
international collaboration.
WP2 will follow a persona approach to develop, through surveys, interviews and focus groups, detailed
empathy maps for each audience segment. These will be the basis to design tailored strategies and
messaging that addresses concerns and conveys clear value propositions. The proposed communication
mix ensuing the audience analysis will propose specific strategies for each stakeholder segment and
recommend appropriate channels, tools and activities depicted below:
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Figure 6
WP2 will pay special attention to case studies and stakeholder testimonials and will showcase them
employing storytelling techniques, whenever possible. So, it will observe basic principles of
communication (Rhetoric, Aristotle), ensuring credibility (ethos) by involving key opinion leaders and
authoritative voices on the RD field, empathy (pathos) by showcasing personal stories and logic (logos)
by presenting facts and corroborated scientific evidence. It will apply science communication best
practices to facilitate understanding and usefulness (i.e., avoid jargon, provide examples, summarise
ideas, contextualise, start with key findings, etc).
Figure 7
Objectives
In its Year 1, WP2 will focus on:
• Developing ERDERA’s brand and raise awareness about its vision and mission, continuing
the process initiated by EJP RD of positioning this ambitious programme, as a pivotal actor to
advance RD research and build the RD ecosystem in Europe and beyond.
• Designing a communication and dissemination (C&D) strategy by M6 that builds on EJP RD
and supports long-term ERDERA’s objectives.
• Construct a coherent narrative across the whole partnership through the development of a set
of key messages (general and audience specific) and an editorial plan that are embedded into
the C&D strategy.
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• Promote available resources, partnership’s activities and calls; communicate progress made in
Year 1 and disseminate results to build ERDERA’s reputation as an enabler of innovative,
standardised, streamlined, and collaborative transnational RD research.
• Support all WPs in their communication needs in Year 1, facilitating the necessary tools and
materials and ensure consistency and alignment with the overall communication strategy and
plans.
• In collaboration with all WSs and partners’ comms representatives, maximise outreach and
contribute to foster engagement, knowledge exchange and community building.
Description of Programmed Activities
T2.1. Communication and dissemination strategy (M1-M12) TL: TEAMIT, INSERM_IT-
GGB. T2.1. aligns with GO:3; SO:3,5; OO:3,5.
This task will build on EJP RD achievements to design a sound communication (C) and dissemination
(D) strategy for ERDERA by M6, tailored to specific audience groups. This strategy will observe Open
Science principles and support and enhance ERDERA’s overall objectives and its position in the
ecosystem as a global enabler of strategic and impactful research. A comprehensive audience analysis,
initially informed by representatives of all WSs and partners’ communication experts, will constitute
the backbone of the C&D strategy. This will be led by the senior communications manager and will
include:
• A communications SWOT analysis that incorporates learnings, achievements, and resources
from EJPRD.
• An audience analysis to identify needs, motivations, attitudes, and desired communication
objectives following a persona approach. This will serve as a basis to generate future value
proposition canvas. Considering the broad scope of ERDERA and the many tasks undertaken,
this audience analysis exercise will be conducted for each WS. As stakeholders’ motivations
and needs to be fulfilled by each WS may differ, the subsequent strategies and messaging will
need to reflect these nuances and be tailored; accordingly, these empathy maps will be
reviewed on annual basis to reflect any shifts in attitudes and needs as the partnership and the
RD research ecosystem moves forward.
• Clear C&D objectives for each audience group.
• A set of key messages (generic and specific for each audience group).
• Mapping of audiences to match them with appropriate communication channels and tools
(communications matrix).
• Specific KPIs to feed into T1.3 for regular evaluation of C&D strategy performance.
• Explicit roles and responsibilities.
The first 6 months of the project will focus on the development of this C&D strategy. As previously
described, WP2 will first analyse results from the C&D strategy implemented by EJP RD this past 5
years to extract learnings, identify gaps and continue building on what has already been done and
proved successful. A second critical task will involve building/refining empathy maps for the following
audience groups:
1. RESEARCHERS
• ERDERA funded initiatives
• Academia*, clinical and/or clinical researchers
o Systems Biologists
o Data scientists
o Biobank managers
o Laboratory scientists & technicians
o Clinical geneticists
• Research organisations
• Learned societies
• Professional associations (i.e., CGCOM; CENOM)
• Applicants to ERDERA funding calls
• Academic institutions/Universities
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• Medical & biomedical students
o Lecturers
o University managers
o Organizations of academic institutions (i.e., UEMS)
2. PATIENTS
• Patient organisations
• Patients & care givers
• ePAGs (RD patient representatives involved in ERNs)
• YPAGs (Young Patient Advisory Groups)
3. PUBLIC DECISION MAKERS
• National Mirror Groups (NMGs)
• Ministries of Health & Research
• European Commission (EC)
• Relevant EU directorates (DG RTD, Santé, Connect)
• (Funding) Program directors and managers
• National legislators focused on health and research
• European legislators focused on health and research
4. OTHER CONSORTIA & ASSOCIATIONS
• IRDiRC
• ESFRI
• Other research initiatives
5. REGULATORS & HTAS
6. FUNDERS
• Philanthropic organisations
• (Inter)national public funding bodies
• Venture capital
7. INDUSTRY/PRIVATE SECTOR
• Large pharmaceutical companies
• SMEs / Biotech
o Pharma, medical devices, ATMPs; ICTs
o EFPIA; EUCOPE
o Innovation managers
8. RESEARCH INFRASTRUCTURES
• ESFRI
9. HEALTH CARE PROVIDERS
• European Reference Networks (ERNs)
• EUHA
• Hospitals/Clinicians at large
10. GENERAL PUBLIC
11. MEDIA
Surveys and focus group interviews will be conducted from M2-M4 to gather meaningful insights into
each audience group. To this end, WP2 will reach out to ERDERA WS leaders to help identify
partners’ spokespersons who can offer an in-depth overview on needs, motivations and attitudes of
key stakeholders. This exercise will allow to construct empathy maps that include specific
communication objectives, strong messaging and value propositions. These will not only inform the
C&D strategy but also future sustainability plans. Based on these empathy maps, WP2 will develop
the C&D strategy and an initial calendar of activities covering M6-M12. The proposed strategy will
be presented for approval to the Executive Committee by M6 before submission of Deliverable D2.2
(“Communication and dissemination strategy”). The D .1 will be developed by M “Project website»
T2.2. C&D operational plans (M1-M12) TL: TEAMIT, INSERM_IT-GGB. T2.2. aligns with GO:3;
SO:3; OO:3,5.
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This task will implement the approved strategy through AWPs designed with the concurrence of WP
leaders and based on the analysis of the performance evaluation conducted in WP1. These will include
SMART communication objectives, operational pillars or a pre-emptive calendar of activities,
audience specific. T2.2. will also develop an editorial plan that constructs and supports a coherent
ERDERA narrative to convey its role in driving innovation, collaboration and international alignment
for cutting edge RD research. This will be led by a scientific writer capable of communicating complex
concepts and results to all types of audiences, using whenever possible, case studies, personal
testimonies, etc. Of note, the scientific writer will not contribute to the production of scientific
publications, blueprints, reports, etc which are the responsibility of each WP but will support their
dissemination once available. Finally, T2.2. will be responsible for the implementation, coordination
with partnering organisations and monitoring of communications plans and will collect quarterly KPIs
for subsequent evaluation. A communications officer with expertise on digital channels will also
support the successful delivery of planned activities.
Before the new partnership officially starts, WP2 will prepare a tactical communications plan to
announce/launch the new partnership ERDERA, successor of EJP RD. Tasks will include:
• Develop new branding & adapt channels (website, social media, etc) accordingly.
• Based on DoA, construct basic messaging to:
o Present ERDERA as the successor of EJP RD which will build on its experience and
achievements to continue advancing cutting-edge transnational RD research and
building a strong ecosystem in Europe and beyond.
o Convey ERDERA’s vision and mission, as a continuation/progression of EJ RD
o Highlight kye changes/novelties in relation to EJP RD
o Outline strategy/work plan
• Draft press release and design a coordinated distribution plan.
These specific activities will be depicted in milestone M2.1 (“Initial set of tools and activities”).
Whilst transitioning from EJP RD and developing ERDERA’s C&D strategy (T2.1), T2.2 will carry
out communication activities and will progressively implement and monitor communications and
editorial plans with a pre-emptive calendar of activities that will include:
• At least bi-weekly posts on LinkedIn, X, Facebook, and Instagram, raising awareness on rare
diseases impact and current status quo in research, generating interest about ERDERA’s
objectives and its expected impacts and, concurrently with T . , promoting partnership’s
activities (incl. joint calls) and available tools, resources and services.
• A quarterly newsletter informing of WSs activities in Year 1; showcasing partnership’s
progress and highlighting future activities. The subscription form will allow to indicate topics
of interest and type of audiences to allow future segmented newsletters.
• Weekly website updates with dynamic content (news, events, etc).
T2.3. Synergies with WSs and communication tools (M1-M12) TL: TEAMIT; Contributors:
INSERM_IT-GGB, EURORDIS, WDO, FFRD, TEDDY. T2.3. aligns with GO:3; SO:2,3,5; OO:3-5.
This task will leverage channels, tools and resources generated by EJP RD to further refine ERDERA’s
branding and communication platforms and materials (website, newsletter, videos, infographics,
factsheets, social media assets, etc) to support the Partnership in all communication and dissemination
needs. This transversal WP will synergise with all WSs to aid understanding of their objectives,
ongoing work plan and relevance of results generated by each of them. It will also promote services,
resources and tools and disseminate any new knowledge produced during Year 1. More specific
actions to be implemented in collaboration with WSs by M12 are as follows:
Coordination
• An infographic depicting SRIA (T1.2) to generate awareness and understanding around RD
policy research strategies, regulatory, legal and ethical issues and the role of ERDERA.
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• Consultation with T1.4 to generate the empathy maps (M2-M6) and initial value propositions
and ensure alignment with future exit strategy.
• Downloadable factsheet addressed specifically to patients, families and society in general
describing current status quo in RD research and the positive impact ERDERA aims to deliver.
• atients section on ERDERA’s website to include by M1 written articles on patient
engagement and a video interview with a patient representative.
• Fixed newsletter section offering patients’ perspective in a number of RD research topics.
RD Funding
• Tactical communications plans to promote first and second funding calls, as well as webinars
for candidates & public consultations through all available channels (ERDERA and its partners
or other consortia and initiatives) and to inform, as well of calls’ results (M1 ) and the
expected impact of funded research projects. This will include a mix of channels (website,
social media, flash newsletter) and tools (banner, videos, etc).
• Dedicated website section signposting to new calls and including information on past calls and
already funded research.
CRNs:
• Dedicated website section promoting, in an engaging and visual manner, available services,
tools and resources.
Data Services Hub
• Infographic to aid promotion of the virtual platform and signpost accessible services and newly
onboarded resources available through main website in a section dedicated to RD research
data.
• Regular dissemination through the website and social media of any new knowledge generated
on genetic cause of diseases, to aid the adoption of methods that increases the usability of rare
disease data.
Expertise Services Hub
• Social media campaign to promote the Innovation Management Toolbox and signpost any new
resources as they become available.
• Newsletter article including a user testimonial of mentoring, consultancy or methodological
support services and the Regulatory Support Group.
Education & Training
• Infographic signposting to training resources and educational activities.
• Social media campaign and e-mail updates targeting (inter)national organisations (NGOs,
learned societies, universities) to promote resources and activities.
• Fixed newsletter section publicising latest trainings and promoting future events.
Acceleration Hub
• Dedicated section on website signposting to the future innovation marketplace; depicting case
study/ies or most promising projects (i.e.; project of the month) and promoting matchmaking
activities.
• Fixed newsletter section showcasing mots advance/promising projects or promoting a key
activity or event.
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• Social media campaign to encourage potential investors to follow and engage with ERDERA.
Inter(national) Capacity
• Fixed website section dedicated to NMGs featuring stories on selected activities, good
practices and achievements to highlight their value in ensuring cross-fertilisation, knowledge
transfer and alignment.
• Fixed section on general newsletter and bi-annual specific newsletter addressed to NMGs.
• Guidance on the design of their annual communications plans. Amplify dissemination of
IRDiRC key activities (state of the play; annual meeting; etc) through ERDERA channels and
media outreach.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 3 Start Date or Starting Event M1: September 2024
Number
Set of Activities Joint Transnational Calls for collaborative research projects
Title
Short name of DLR (3) ANR FFRD ISCIII EURORDIS FTELE IFD (59)
participant & (4) (29) (72) (26) (5)
(No)
Person Months 14.75 3.25 1.75 1.2 1.0 0.75 0.75
Short name of WDO ETAG F.R.S.- FCT (61) FNR (138) FRRB FWF (58)
participant & (120) (100) FNRS (56)
(No) (54)
Person Months 0.2 0.75 0.75 0.75 0.75 0.75 0.75
Short name of FWO (92) HRB Rannis IT-MOH LMT (6) LZP MOSAE
participant & (67) (69) (76) (78) (103)
(No)
Person Months 0.75 0.75 0.75 0.75 0.75 0.75 0.75
Short name of NCBR RCN RIF SAS SPW (98) SRC RT(TuscReg)
participant & (83) (91) (94) (101) (104) (109)
(No)
Person Months 0.75 0.75 0.75 0.75 0.75 0.75 0.95
Short name of UEFISCDI Vinnova CSO- TÜBITAK MUR (82) ZonMw NKIFH
participant & (126) (144) MOH (108) (7) (139)
(No) (49)
Person Months 0.75 0.75 0.75 0.75 0.75 1.45 0.75
Short name of BMBF ** CIHR* FRQS* DFG* SNSF* BNSF AZV (62.1)
participant & (41) (153) (156) (154) (166) (129)
(No)
Person Months 0.75 0.75
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Short name of MZd **
participant & (62)
(No)
Person Months
Start month M1 End month M12
*Associated partners providing in-kind contribution
** Beneficiaries providing in-kind contribution
State of the art behind this WP
Notwithstanding the important progress in the Rare Diseases (RD) field, many aspects remain without
solutions. The need for fundamental, translational, clinical, social and health services research and
most efficient modes of fostering them are therefore still topical. Since at present, only few European
countries fund research on RD through specific dedicated programmes, the funding of transnational
collaborative research is the most effective joint activity to enhance the cooperation between scientists
working on RD in Europe and beyond, and thus reducing fragmentation of research in this field. These
funding opportunities will be built on the positive and longstanding experience of E-Rare and EJP RD.
Methodology
The WP will implement patient centric transnational and collaborative research among scientists,
clinicians, companies, and patient organisations, with the goal of reducing the burden of rare diseases
(RD) for patients in Europe and beyond. This includes appropriate mechanisms for relevant topic
selection (pre-identifying gaps from past calls and including innovative subjects), wide participation
of outstanding teams and engagement patients and research teams from underrepresented countries in
the whole process. Transnational calls will cover topics of interest for patients, obtaining an accurate
diagnosis, developing new therapies, and improving the life of patients by funding projects ranging
from basic to pre-clinical, clinical and implementation/translational research, to human and social
sciences and interdisciplinary research. Seven joint transnational EC co-funded calls (JTCs) should be
launched with an estimated overall budget of more than about 1 0 Mio. €. arts of the EC co-fund
budget will be dedicated to funding patient advocacy organisations (PAOs) involved in research
projects. The applicants will be linked to the Partnership services concerning translational mentoring,
regulatory support, and data management during the application process to benefit from cross-
disciplinary expertise and goal-oriented study planning. This will be further supported by targeted
training opportunities. This will enable efficient execution that feed into innovation and facilitates
uptake of results through opportunities presented in the acceleration hub. The WP contributes to all
ERDERA objectives and is linked to all WPs.
Objectives
The funding of transnational collaborative research is critical to enhance the cooperation between
scientists working on rare diseases across Europe and beyond. Therefore, the main goal of this WP is
to implement seven joint transnational EC co-funded calls which include the following tasks:
• Topic selection and definition of eligibility criteria
• JTC call implementation
• Engagement of patients.
Transnational calls on diagnosis, therapy development, improved understanding of clinical outcomes
or SSH research will be launched over the 7 coming years. In Year 1, the first call will be launched,
the second call will be prepared and the patient engagement working group will be set up.
Description of Programmed Activities
First joint transnational call
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T3.1. Call topic selection for JTCs and Clinical Trial Calls (M1-M12) TL: ANR, DLR, ISCIII,
FFRD, FTELE; Contributors: ZonMw, WDO, EURORDIS, all participating funding agencies (BMBF,
BNSF, CIHR, CSO-MOH, DFG*, ETAg, F.R.S.-FNRS, FCT, FNR, FRQS, FRRB, FWF, FWO, HRB,
IFD, IT-MOH, LMT, LZP, MOSAE, MUR, MZd, NCBR, NKFIH, Rannis, RCN, RIF, RT (TuscReg),
SAS, SNSF, SPW, SRC, TUBITAK, UEFISCDI, Vinnova). T3.1. aligns with GO:1-3; SO:1-5; OO:1-5.
A centralized process for the identification of topics for the joint transnational and clinical trial calls
will be established and include multi-stakeholder input from the rare disease community inside and
outside the partnership as well as IRDiRC and lessons learned from previous E-Rare and EJP RD calls.
It is envisioned to formulate a multi-annual call topic strategy with broader themes which will be
developed in consultation with the ERDERA MAB together with ad hoc advisors and then opened to
public consultation. Further refinements will then be made for each topic by the Board of Funders. The
topics and call procedures will be submitted in advance to the EC for validation.
To maximize synergies, it is expected that the topics for the first three joint transnational calls will be
in line with the CRN themes diagnosis, therapy development and improved understanding of clinical
outcomes. Themes in years 4-7 will take advantage of ATMP technology advancement knowledge
derived from WP11 and WP21 as well as facilitate early career researchers or human and social
sciences research among other possible themes which will be closely linked to the developments in the
CRNs and accelerator hub. It is foreseen that the clinical trial topics will focus on RD not yet treated
and not investigated by enterprises. In Year 1, the topics for the first and second joint transnational
call as well as the topic for the clinical trial call will be developed.
To avoid conflicts of interest, a strict firewall between the parties deciding on call topics and
partnership beneficiaries will be established. This includes:
Phase 1: Open general topic definition (see description above)
Phase 2: locked and involving only participating funding organisations: decision on the choice of topic
(if several proposed) and/or refinement of topic details, eligibility rules, etc.
• In the case of involvement of experts from outside the partnership or from participating RPOs
in these processes the participation of these experts to the call (as well as participation of their
direct collaborators) is forbidden. Each expert signs a confidentiality clause.
• Decision on topic description and call documents made solely by representatives of funding
bodies.
• Mentioning of call topic in partnership boards only in broadest terms (e.g., focus on diagnosis,
therapy development).
• Persons and their direct research groups that participated in activities above are not allowed
to apply for funding.
• Detailed call topic description will only be made available outside the Board of Funders
through publishing of the public call documents (pre-announcement, call publishing).
• If organizations are both Research Funding Organisations (Programme Manager) and
Research Performing Organisations (e.g., INSERM/ISCIII/FTELE) additional measures are
put in place to enable eligibility RPO parts of these organisations to apply to the call:
o nomination of dedicated persons to represent above institution in topic selection
process who cannot apply to call.
o any other person from INSERM/ISCIII/FTELE participating directly or indirectly
(through the possible third parties) in the partnership are not involved in: decision on
topic of the call; the description and preparation of call documents; the preparation of
the pre-announcement; the call evaluation process; the final decision on the projects
to be funded.
In the topic description of the call, a list of excluded (sub)topics or disease areas dependent on
initiatives that take place inside and/or outside the partnership will be elaborated. The final validation
of topics will be taken by the Board of Funders in close collaboration with the EC.
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T3.2. JTC implementation (M1-M12) TL: DLR, ANR, FFRD, ISCIII; Contributors: all participating
funding agencies (BMBF, BNSF, CIHR, CSO-MOH, DFG*, ETAg, F.R.S.-FNRS, FCT, FNR, FRQS,
FRRB, FTELE, FWF, FWO, HRB, IFD, IT-MOH, LMT, LZP, MOSAE, MUR, MZd, NCBR, NKFIH,
Rannis, RCN, RIF, RT (TuscReg), SAS, SNSF, SPW, SRC, TUBITAK, UEFISCDI, Vinnova,
ZonMW). T3.2. aligns with GO:1-3; SO:1-5; OO:1-5.
ST3.2.1. Preparation of the first joint transnational call and establishment of the joint call
secretariat STL: DLR; Contributors: all participating funding agencies
The TL will be responsible for facilitating the definition of eligibility criteria for the call. The following
criteria were used in past calls but will need to be adapted to the specifics of the call topic and the
lessons learned from previous calls:
• Only transnational projects will be funded.
• There will be a minimum and maximum number of partners per proposal.
• No more than two eligible partners from the same country participating in the call will be
accepted in one consortium.
• The consortium coordinator must always be eligible to receive funding from the funding
organisations participating in the call.
• Although applications will be submitted jointly by research partners from several countries,
individual groups will be funded by the funding organisation of their country/region that is
participating in the call. Applications are therefore subjected to eligibility criteria of the
involved individual funding organisations.
• Enlargement options for consortia will be used to incentivize inclusion of partners from
underrepresented countries or early career researchers. The inclusion of partners from
underrepresented countries (widening measures) will be further facilitated through close
collaboration with WP24.
• To facilitate the participation of patient groups in the proposals, a dedicated budget will be
set aside to support their tasks in the projects.
Depending on country/regional regulations, joint research proposals may be submitted by applicants
belonging to academia, the clinical/public health sector, enterprises, or private not-for-profit
organisations (e.g. patient organisations, foundations, etc.). Although no limit will be set for a
maximum grant amount, it is expected that consortia will apply for budgets aligned with the proposed
research activities planned for a maximum of 36 months. Moreover, national budget limitations may
apply.
The TL will be responsible for drafting and finalizing all necessary documents including:
• Memorandum of Understanding
• Call text
• Governance and evaluation procedures
• Guidelines for applicants
• Proposal templates
• Other documents that might become relevant
Previous versions of these documents already established in the first EJP RD and validated by the
Commission will efficiently be used as example templates and then adapted following comments made
during EJP RD calls. In addition, the TL will set up the JCS which will act as central support to the
applicants regarding all aspects of proposal drafting and submission. Finally, each participating
funding organization will establish its national/regional contact point. Potential applicants will be
strongly encouraged to contact their national/regional representative for advice on national/regional
rules and regulations, including eligibility and financial budget regulations.
The call for proposals will be published on the ERDERA website and by relevant national/regional
funding organizations via their national publishing routines such as websites, newsletters, press
announcements, etc. The publishing instruments of the EC, such as the Participant Portal and ERA-
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LEARN, will be used as well. If feasible, a call pre-announcement will be published to maximize the
early mobilization of the RD research community. The call will be opened for the submission of
proposals for at least 60 days. A webinar will be held to inform applicants of the call specifics. The TL
will be supported in the implementation of all steps by a JTC operating group consisting of
representatives of all JCS implementing organisations.
ST3.2.2. Scientific evaluation of the first joint transnational call STL: DLR; Contributors: all
participating funding agencies (M3-M12)
The evaluation will be implemented in a two-step procedure according to the Horizon Europe rules. In
the first step, applicants are invited to submit pre-proposals, which describe a short outline of the
proposed work. The eligible applications will first undergo national eligibility check and then be
submitted to the transnational peer review Scientific Evaluation Committee (SEC) composed of
independent expert scientists chosen for their scientific, technical and/or disease-specific expertise, as
well as patient representatives. The Committee will be as far as possible gender and geographically
balanced, including experts from countries participating and not participating in the call, experienced
(i.e. previous SEC members) as well as new members. Reviewers will be carefully selected regarding
any potential conflict of interest. The evaluation of proposals will be aligned on the scoring system
and criteria (‘excellence’, ‘impact’ and ‘quality and efficiency of the implementation’) of Horizon
Europe. The SEC will select the most promising applications for submission of a full proposal. The
tentative number of proposals retained for the second step will be about 2-3 times the number of
possibly funded projects and will depend on where a break is perceptible in the quality of proposals.
The full proposal step will be used to facilitate inclusion of additional partners from
underrepresented/undersubscribed countries through a voluntary widening step. Applicants will be
able to receive advice on ethical, regulatory, innovation, translational and data management aspects
from partnership services (WP 17, 18, and 19) and can modify their proposals accordingly. In the
second step of the evaluation, the JCS will check the submitted full proposals to ensure that they meet
the call formal criteria. Subsequently, the submitted full proposals will be reviewed by three members
of the previously established SEC. These will be complemented by patient experts and methodological
experts. In a second meeting the SEC will agree on a final ranking list of excellent proposals
recommended for funding. The consortium will take all lawful steps to ensure confidentiality of
information and documents obtained during the evaluation and selection procedures of the joint call.
In addition, an independent expert will be invited as official observer to the second SEC meeting to
assess the conformity of the general implementation of the joint call and specifically the proper
implementation of the international peer review and establishment of the ranking list of transnational
projects. The assessment of the observer will be provided in a report to the European Commission. It
is expected that the evaluation process including provision of written evaluation reports will be finished
in M15.
A clear link to the ERDERA services regarding translational mentoring and data management will be
established. The requested budget in the proposals applying to the JTCs should already include
provisions to allow funding of these services to deliver on the ERDERA mission that “every high-
quality project will benefit from cross-disciplinary expertise, goal-oriented study planning and efficient
execution”. This will be considered when defining mechanisms driving different steps of JTC
application and evaluation in more detail.
ST3.2.3. Ethics evaluation of projects recommended for funding of the first joint transnational
call STL: DLR; Contributors: all participating funding agencies.
An ethics evaluation of the projects selected for funding will be done by independent ethics evaluators
following Horizon Europe standards. Applicants will be obliged to comply to ethics requirements
delineated by the ethics evaluators. Only projects that pass the ethics evaluation will be funded. The
follow up of ethics compliance of all funded projects will be done in collaboration with WP1. The
process will be started in M6 with the selection of ethics experts suitable for the topic of the call and
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is expected to finish in M14. The follow-up of the ethics evaluation results will be done in the relevant
tasks in WP1.
ST3.2.4. Funding decision of the first joint transnational call STL: DLR; Contributors: all
participating funding agencies
The CSC will take its final funding decision based strictly on the scientific recommendation of the
SEC (ranking list). As many full proposals as possible with a clear funding recommendation will be
funded, considering the available budget. Each eligible applicant will be funded by the organization of
the country/region from which the applicants have applied and according to the national/regional
administrative regulations (virtual common pot model). This will be done in accordance with the
general criteria fixed in advance to the launch of the call to avoid the underestimation of
national/regional budgets. If proposals have identical scores, the proposals coming from participating
organizations with still available funding will be given precedence, to further maximize the number of
selected projects. The joint selection list of projects to be funded will be communicated to the EC. The
applicants will be informed about the final funding decision and the national negotiations will
commence. The final funding list will be prepared by the JCS and provided to WP2 leader for
publication on the partnership communication channels as well as the relevant EC portals. The process
will be started on M12 and is expected to finish in M15. Monitoring of the funded projects will be
implemented through WP1 in year 2.
Second joint transnational call
T3.1_(2). Topic selection for the second joint transnational call (M3-M12) TL: ANR; Contributors:
FTELE, ZonMw, WDO, EURORDIS, all participating funding agencies
T3.2_(2). Joint Transnational call - implementation of the second call (M6-M12) TL: ANR;
Contributors: all participating funding agencies
ST3.2.1_(2). Preparation of the second joint transnational call and establishment of the joint call
secretariat STL: ANR; Contributors: all participating funding agencies
In general, the description of work for this call is analogous to the first call described above. Lessons
learned from the first call and strategic input from the other WPs will be considered for all the steps
included in this call.
T3.3. Engagement of patients in research project funding (M1-M12) TL: EURORDIS, FFRD,
DLR; Contributors: ANR, ISCIII, ZonMw, RT (TuscReg), WDO, AFM. T3.3. aligns with GO:1-3;
SO:1,3-5; OO:1,4,5.
The working group will be composed of both funders and representatives of RD patients. It will focus
on improving patient involvement and engagement on all levels of the call process (i.e.: call topic
definition/eligibility issues for PAOs participation and/or funding/dissemination/evaluation/PPIE-
oriented monitoring indicators), but also engagement in research project design. It will also focus on
ERDERA calls dissemination and promotion to PAOs, support to PAO willing to participate to
research projects by providing additional information and answering specific requests. Finally, this
group will drive a joined-up thinking with PPIE group about the place of PAOs as funders of European
research projects, especially for JTCs. In addition, the group may serve as an advisor for PAOs willing
to fund RD research (providing guidelines and advice) as well as proposing innovative ways of funding
research with side funding from EU PAOs (federations or disease-specific). In Year 1, the working
group will be established and a call for interest launched among European PAOs to benefit from their
experience as research project partners and/or funders, especially from underrepresented countries (not
limited to EJP RD or ERDERA beneficiaries). This call will be disseminated by EURORDIS channels
as well as through ERDERA and partners channels. The outcome of this call for interest will be the
organisation of a workshop aiming at mapping the efforts of PAOs in RD research as well as paving
the way for further interaction and synergies with the ERDERA funding research schemes. The link
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with the PPIE group (WP1) will be established to take stock of funding opportunities of JTCs by the
PAOs. The group will be closely involved in the first and second ERDERA JTC call topic definition
as well as in the preparation of the launch of the calls (ST3.1.1, ST3.2.1.1). The group will raise
awareness among JTC national contact points of the need to include PAOs in each consortium and will
act as the focal point to answer all queries from PAOs related to an ERDERA research call.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 4 Start Date or Starting M1: September 2024
Number Event
Set of Activities Clinical trial call management
Title
Short name of FTELE DLR WDO QUB- HRB**
participants & (No) (5) (3) (120) UK* (67)
(172)
Person Months 1.6 1 1 0.6
Start month M1 End month M12
** Beneficiary providing in-kind contribution
State of the art behind this WP
There are around 6200 rare diseases (RD), 70% of which are genetic in origin1. Collectively, up to 36
million people in Europe are living with a rare disease2. Therefore, RDs are a major public health issue
requiring effective interventions to be identified to ease this burden on patients, friends and families,
society and health systems. Many RDs have an early or very early onset and/or lead to a significant
decrease in life expectancy. Most of them cause chronic illnesses that heavily affect affected persons’
quality of life and negatively impact on the health care system. and health care system. and even more
evident during and since the COVID-19 pandemic and at times of disasters e.g., earthquakes and war.
Current treatments are usually supportive rather than disease-modifying, leaving most patients with
rare diseases with considerable unmet medical needs. Tackling these issues will require valid and
reproducible clinical trials, and opportunities for those affected by rare diseases to influence and
participate in these trials. However, conducting clinical trials in rare diseases presents unique
challenges. Considering that 85% of RD affect < 1/1,000,000 people, the cohorts are often very small.
Methodology
The call topic selection and design will be in line with the processes described and in close
collaboration with WP 3, T3.1 and will illustrate the goal of the initiative, the eligibility criteria (for
applicants and institutions/centres) and relevance requirements, as well as the different phases of the
evaluation process. In close collaboration with WP24 ERDERA will promote the inclusion of centres
from underrepresented countries in clinical trials. Additionally, policies related to data and results
exploitation, compliance with clinical and regulatory standards, industry involvement and public and
patient engagement will be described in the call text. The call text would be discussed and approved
at the Board of Funders (BoF) and Governing Board (GB) of the Partnership. Based on the experience
of the RD partners and on previous EJPRD calls, the evaluation process will have 3 main phases (see
T2.0 for further details):
• Pre-proposal submission and triage phase (through peer review): the evaluation will focus on
the scientific merit and relevance/significance of the clinical research proposal, and it will be
conducted by clinical trial scientific committee (CTSC).
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• Evaluation of selected full proposals (through peer review): the evaluation will focus on the
robustness and feasibility of the clinical protocol, and it will be conducted by the clinical trial
evaluation board (CTEB).
• Selection of excellent projects and funding by milestones.
Both the CTSC and CTEB will ensure to have a geographical and gender balanced composition. This
methodology will ensure that only relevant proposals will receive further support (Regulatory/CT
management/statistical support will be provided to applicants who pass the first step of evaluation;
Please see T4.2 for further details) and proceed along the evaluation process. It will require the design
of the trial and its conduct to consider specific requirements and clear milestones, which would
increase chances of success and allow best use of the resources. FTELE has extensive expertise in call
design opening and management; currently managing many competitive extramural initiatives and two
intramural non-competitive programs. FTELE conducts a peer review process which is quality
certified.
A multistep application is time saving for researchers (burden of initial application is reduced) and it
allows for feedback and a better overall project design. Indeed, the quality of full applications should
be improved, aligning with the idea to accelerate the development of a robust and meaningful trial that
would eventually lead to a treatment.
The 3 tasks will be carefully planned and will rely on the expertise and previous experience of RD
partners. The interaction with the CRN and the Accelerator Hub will be an added value, for both project
implementation and results exploitation, eventually.
Objectives
T4.1. will be the only WP4 task with planned activity on the Year 1. The objectives of this T4.1 –
Development of the call framework are:
• Topic selection and definition of eligibility criteria.
• Preparation of the call and establishment of the joint call secretariat.
• Platform implementation.
Description of Programmed Activities
T4.1. Develop the call framework (M1-M12) TL: FTELE, DLR, WDO, QUB-UK; Contributors:
HRB.
The following task is planned during Year 1. T4.1. aligns with GO:2; SO:3; OO:1,5.
• The selection process for the topic of the call will be centralised and will be done according to
the same procedure adopted in close collaboration with WP3. FTELE, DLR, WDO, and QUB-
UK and HRB will draft the text of the call by M12, and finalize it by M18, as well as the timing
for proposal submission, in close collaboration with the Board of Funders which will also give
final approval. A second call will be opened at M36. Specifically, this will be an open
competitive call, open to researchers, clinical centres and patient organizations from all
Horizon Europe eligible countries. The call text will clarify the eligibility criteria: the type of
clinical trial (e.g., phase (I/II) and intervention – drug/medical device/ other), topic (e.g., first-
in-indication, next-in-class, etc) and status of the intervention (e.g., proprietary products, off-
patent products, ODD, etc). A minimum of recruiting centres and/or countries will be
specified, and the number and role of each centre and partner will need to be defined in the
application. The potential roles for companies will be specified and guidelines about their
involvement (at each stage of the call and of the project) will be provided. Additionally, the
call text will have to contain information about the minimum requirements for the clinical trial
(e.g., GCP, ethical approvals, etc), funding management (a central funding agency, y) and the
proven and meaningful involvement and contribution of patients, Patient Associations,
patients’ representatives, patient experts and the public in the design and implementation of
the project. Specific attention will be given to data sharing, the return of the data back to the
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patient, the publication of positive and negative results in open access journals etc. TLs will
also identify the time frame of the call (opening, closure, peer review, final decision etc). To
avoid conflicts of interest, a strict firewall between the parties deciding on call topics and
partnership beneficiaries will be established (see WP3).
• The design of the call will be based on the model under development by ERA4Health to
demonstrate the feasibility of the funding model. The MAB or specific thematic groups that
could stem from it will be involved in the discussion. The ultimate goal is to develop a funding
model that overcomes bottlenecks encountered under JTC2016 E-Rare-3 and fund
multinational RD CTs. In addition, ERDERA will contribute via ECRIN to the Accelerating
Clinical Trials in the EU (ACT EU) initiative to integrate their recommendations for
multinational CTs in the call text of the ERDERAs’ calls. The final call documents will be
presented to the Board of Funders for their approval. The TL will be responsible for drafting
all necessary documents including Memorandum of Understanding, Call text, Governance and
evaluation procedures, Guidelines for applicants, Proposal templates and other documents that
might become relevant. In addition, the TL will set up the CT call secretariat, which will act
as central support to the applicants regarding all aspects of proposal drafting and submission.
• Implementation of the call on the platform and testing.
T4.2. Open the call and select trials for funding (starts M19) TL: FTELE; Contributor: WDO. T4.2.
aligns with GO:2; SO:3,4; OO:1,4,5.
FTELE with the contribution of WDO will open the first call in the second half of Year 2. The second
call will not be open before Year 4. There are no planned activities for this task during Year 1.
T4.3. Project implementation, project monitoring, and financial management (starts M38) TL:
FTELE; Contributors: IT-MOH; CSO-MOH, WDO. T4.3. aligns with GO:2; SO:1; OO:1,5.
The objectives of this task are to ensure a smooth implementation of the funded trials and to follow
the achievement of project specific milestones for each funded clinical trial. Indeed, for each project,
funding will be paid in instalments, which will be triggered by the achievement of specific milestones.
This is therefore a crucial task to ensure an efficient use of resources. There are no planned activities
for this task during Year 1.
Additional deliverables (additional to those included in part B of the proposal)
Other documents related to CT call text and procedures.
Set of Activities 5 Start Date or Starting M1: September 2024
Number Event
Set of Activities Networking to share knowledge on research
Title
Short name of LMT (6) ZonMw FFRD ANR (4) EURORDIS WDO GA UK*
participant & (7) (29) (26) (120) (168)
(No)
Person Months 1.25 2.00 0.50 0.40 0.20 0.20 0.20
Short name of CSO- FGB
participant & MOH (23)
(No) (49)
Person Months 0.20 0.50
Start month M1 End month M12
*Associated partners providing in-kind contribution
State of the art behind this WP
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Networking between stakeholders is essential to understand and translate the needs of the persons
living with a rare disease (PLWRD) into diagnostics, (new) therapies and to understand the impact of
these diseases on the life of patients, families, and their surroundings, including friends, school and
work environments. In the EJP RD, the Networking Support Scheme (NSS) to share research
knowledge on RDs and rare cancers was established to support the organisation of face-to-face or
hybrid meeting (conferences. workshops). This competitive funding scheme, even if small, was very
much appreciated by many stakeholders, and especially patient advocacy organisations. This funding
scheme will be continued in the ERDERA to empower PLWRD to be full partners in RDs research, to
involve stakeholders from widening countries1 in new or expanding research networks and to get and
keep young researchers engaged in RDs research. The NSS will also target to support the building of
new research networks for underserved RDs or cohorts of undiagnosed patients that are suspected of
living with a RD.
The networking support scheme will encourage applicants to apply to other funding schemes, in
ERDERA (e.g., in Joint Transnational Calls (WP3) or in Clinical Trials (WP4), in EC Calls (e.g., Marie
Sklodowska-Curie Actions or COST actions) or in R&I calls like in Innovative Health Initiative or
support the building of global multinational research networks (WP25).
The exchange of knowledge facilitated through this networking support scheme will also lead to an
increased uptake of research results by providing the space to share diagnostic practices and guidelines
and strengthen the collaborations with other national (WP23, WP24) or international stakeholders
(WP25).
Methodology
The Networking Support Scheme will support the organisation of conferences, workshops, or
stakeholders' meetings. It will be continuously open after the launch of the Call. The applications for
this funding scheme will be collected twice a year and the application will be evaluated by external
reviewers (researchers/clinicians/representatives of patient advocacy organisations) in a competitive
way using the evaluation criteria from the EC. The Networking events will be funded by EC budget.
Networks of researchers/clinicians and representatives of RD support groups and patient organizations
from countries involved in the ERDERA will be eligible to apply. The consortia should include
beneficiaries from at least three different eligible countries at the time of application. Additional
beneficiaries from countries not involved in the ERDERA may be also part of the consortium,
depending on the scope of the networking event. However, they will not be eligible to directly receive
funds (i.e., to be a grant holder). There will be no limitation on the size of a network. Nonetheless, the
maximum grant amount will be limited to 0 000 € for each funded networking event.
Objectives
The main objective of this WP is to encourage sharing knowledge on research among relevant
transnational and transcontinental RD stakeholders including clinicians, basic researchers, patients’
organisations/RD support groups, as well as PhD students, post-docs, other early career researchers
and industry through funding of networking events. These events will support building of new
transnational and/or transcontinental research networks or expanding existing research networks on
RDs and rare cancers and will support patient-need led research, and inclusion of stakeholders of
widening countries and young researchers. The specific objectives of this WP for Year 1 are:
• The experience and lessons learned from the scheme to fund networking events, developed
in the EJP RD, will be implemented in Call documents and in evaluation procedure.
• The Call will be launched for interested applicants in Year 1.
• A helpdesk for this funding scheme will be installed for interested applicants and potential
evaluators.
Description of Programmed Activities
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T5.1. Preparation and launching of the funding scheme (M1-M9) TL: LMT, ZonMw;
Contributors: FFRD, ANR, EURORDIS, WDO, GA UK, CSO-MOH, FGB. T5.1. aligns with GO:1-3;
SO:3-5; OO:1,4,5.
T5.1.'s objective is to prepare the Call documents, application and evaluation procedures of the funding
scheme to fund networking events. A Working group will be set up to prepare the documents for the
application and evaluation procedure of the Networking Support Scheme. This Working group will be
composed of the TLs and contributors.
The experience and lessons learned of the Networking Support Scheme in the EJP RD will be used to
implement the support for networking at European transnational and transcontinental level. Financial
support will be provided for the organisation of conferences or workshops to foster networking of RD
and rare cancer stakeholders to (list is not exhaustive and will be finalised with the Working group):
• Share existing knowledge on a specific (group of) RD(s) or rare cancer(s) or on cohorts of
undiagnosed patients that are suspected of suffering from a RD(s);
• Improve the knowledge on RD(s), especially for the underserved RDs and rare cancers;
• Encourage further innovation and research, e.g., by preparing an application for another
networking grant or training grant (e.g., for C ST Actions, Marie Skłodowska-Curie Actions,
etc.), research grant or clinical trial grant in ERDERA (WP3 and WP4), or in other EC or
international programmes;
• Share knowledge and best practices on data sharing and /or novel/validated methodological
approaches for clinical research;
• Encourage involvement of stakeholders from widening countries;
• Encourage involvement of young researchers and clinicians.
It is expected that networks of researchers/clinicians and patient organizations from countries involved
in the ERDERA may be eligible to apply. The consortia should include beneficiaries from at least three
different eligible countries at the time of application. Additional partners, from countries not involved
in the ERDERA, may be also part of the consortium, depending on the scope of the networking event.
However, they will not be eligible to directly receive funds. There will be no limitation in the number
of participants. Nonetheless, the maximum grant amount will be limited to 0 000 € for each funded
networking event. The applications will be selected through competitive calls.
The Call documents that have to be prepared are e.g., public documents, including the Call text and
application form. Furthermore, criteria for evaluation of applications by an Evaluation Committee will
be established, a pool of evaluators will be prepared that will be composed of clinicians, researchers
and patients/patient representatives, confidential guidelines for the Evaluation Committee will be
written and webinars for applicants and tutorials for evaluators will be prepared. The documents will
be submitted for validation of the EC before opening of the call. The Call will be published widely
through the same channels as the Joint Transnational Calls (WP3) with help of WP Communication
(WP2) and launched at Month 9. The webinars for the applicants will be published on the ERDERA
website (WP2).
The Call will be continuously open after its launch. The applications for this support scheme will be
collected twice a year and the applications will be evaluated by the Evaluation Committee in a
competitive way. The first collection date will be in early Year 2.
T5.2. Evaluation of the selected proposals after each collection date (M9-M12) TL: LMT, ZonMw;
Contributor: FGB. T5.2. aligns with GO:1-3; SO:3-5; OO:1,4,5.
The Call will be open from M9, and the first collection date will be in early Year 2. Therefore, ST5.2.
on evaluation of the proposals will start in ERDERA Year 2 and will be continued throughout the
duration of the project.
T5.3 Quality management (M9-M12) TL: LMT, ZonMw; Contributors: FFRD, ANR, EURORDIS,
WDO, GA UK, CSO-MOH, FGB. T5.3. aligns with GO:1-3; SO:3-5; OO:1,4,5.
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T5.3 starts at Year 1 and will be continued throughout the duration of the project. The specific objective
of the ST is to ensure the quality of the implementation of the funding instrument: monitoring of the
administrative, evaluation, funding processes to improve them along the duration of the funding
scheme. In Year 1, a specific helpdesk will be set up to answer the questions of applicants and of
(potential) evaluators after the launch of the Call. This helpdesk will e.g., support less experienced
applicants in the administrative procedures to submit the application.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of 6 Start Date or Starting Event M1: September 2024
Activities
Number
Set of Diagnostic Data Availability
Activities
Title
Short name UT (8) CNAG UTARTU UMCG CRG- CAD RS (65)
of participant (10) (9) (19) CERCA (1.1)
& (No) (145)
Person 27 24 15 9.6 5 2 2
Months
Short name CENTOG INSERM_ CCRI VIB UGENT KU MUS (80)
of ENE (43) IT-GGB GmbH (147) (118) Leuven
participant (1) (42) (77)
& (No)
Person 2.4 40 3 3 3 3 3
Months
Short name UoC MUH Aarhus REGIONS REGION INSERM_ UO (149)
of (117) (81) UH (133) YD (87) H (48) U974 (1)
participant
& (No)
Person 3 3 3 6 3 3 3
Months
Short name APHP INSERM_ CHU TUM NKUA RCSI UNICAM
of (24) U1112 Dijon (12) (84) (95) PANIA
participant (1) (46) (116)
& (No)
Person 3 3 3 3 3 3 3
Months
Short name OPBG AOU UNISI REUH VULSK SRUMC LUMC
of (88) Meyer (143) (93) (27) (11) (16)
participant IRCCS
& (No) (38)
Person 3 3 3 3 3 3 3
Months
Short name Erasmus IGC PAN UKCL CIBER IBG (68) UCAM* UNEW*(1
of MC (53) (71) (119) (125) (174) 69)
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participant
& (No)
Person 3 3 3 3 3 3 3
Months
Short name UCL* Aalborg UANTW IPG (148)
of (173) UH (130) ERPEN
participant (128)
& (No)
Person 3 3 3 3
Months
Start month M1 End month M12
State of the art behind this WP
Diagnosis has critical value for RD research, clinical practice and PLWRD. Diagnosis of novel or
established RD enables research and knowledge (i) on function of genes, on non-coding genome
elements and pathogenic variants, (ii) on patho-mechanisms of RD leading to the development of
innovative therapies (WP11,12), biomarkers and outcomes (WP9,10). Only exact diagnosis enables
engagement of RD patients and their data to clinical trials, natural course studies and biomedical
research. Finally, in clinical practice diagnosis is key for an informed disease management, has social
consequences (e.g., family plans, access to social services/ education/ disability levels) and enables
engagement in patient organisations.
However, despite improvements in diagnostics and research possibilities for RDs, time to diagnosis is
on average still years long and a large number of people with a suspected RD remain without a
molecularly proven diagnosis. In healthcare systems, where exome sequencing or genome sequencing
are becoming standard of care, the diagnostic yield varies between 20-70% depending on the type of
RD, inclusion criteria, sequencing strategy, and analysis standards.
In recent years, various international initiatives and EU projects, including GA4GH, IRDIRC, 1+MG,
EJP-RD, and the ELIXIR RD-Community, have worked towards providing foundational (e.g., data
standards, infrastructure) resources for RD research diagnostics based on (re-)use of genomic as well
phenotypic and clinical data across Europe. In 2018, the EU project Solve-RD – Solving the unsolved1
– was initiated and for the first time succeeded in building a Pan-European ERN based expert and data-
secure sharing and research analysis ecosystem. Building upon existing tools and resources such as the
RD-Connect GPAP2 and the EGA3 and international standards such as provided by GA4GH4 as well
as RD standards and ethical policies from EJP RD5, this collaborative infrastructure enabled the sharing
and systematic (re)analysis of over 22,000 REAL (RE-Analysis Logistics: genomic raw data,
standardised phenotypic and pedigree information, meta-data) datasets across Europe.
Methodology
The primary objective of WP6 is to build upon the accomplishments of Solve-RD, EJP-RD and ERNs
as well as the infrastructural elements being built by Genomic Data Infrastructure (GDI) project (start
in 2022) and 1+MG to deliver diagnostic research data availability on a European scale so that data
research re-analysis methodologies can be applied for solving unsolved RD patients, to shorten time
to diagnosis and enable the development of new therapies and treatments (WP11 and 12) as well as
biomarkers and outcomes (WP9,10).
To this end, the CRN diagnostic research workstream will build on the existing ERN ecosystem and it
will also include national undiagnosed RD programs (UDP) as well as national diagnostic centres and
programs. This way, both scaling up the proven collaborative Solve-RD infrastructure that has been
using a distributed data analysis approach and implementing a federated approach that is based on
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national 1+MG/GDI infrastructural elements - designing, building and testing the GDI infrastructure
that will enable access to genomic data in Europe started in 2022 - will be feasible. This approach will
allow to deliver on GO1 as well as to develop, test and scale-up the federated approach using early
adopters (e.g. CAD (France), GMS-RS (Sweden)) from the beginning of the project.
The work of WP6 will be closely coordinated with the Data Services Hub, particularly using the
services provided by WP14 (Data readiness for federated approach) and WP15 (Data analysis
services). WP6 will also prioritise unwavering compliance with ethical considerations, ensuring
responsible and ethical data usage throughout the project.
To ensure the quality and integrity of the data included in the project and monitor the data sharing, a
Data Availability Committee will be established from the project's inception. This committee will
consist of representatives from WP6, WP7, and WP8 from the CRN Diagnostic research workstream
and WP15 from the Data Hub workstream. Leveraging the Solve-RD data infrastructure and its
associated policies (data sharing, data access, publication, Code of Conduct; WP6 will up-scale and
consolidate a secure environment for ERNs, UDNs and diagnostic centres to share data on undiagnosed
RD patients. More than 60 diagnostic centres and programmes (representing more than 12 ERNs, 22
countries) have already stated their interest to be involved in the work of the ERDERA diagnostic
research workstream amounting to a putative availability of a large number of datasets (>150.000)
during the first three years of ERDERA.
Notably, a network of diagnostic research centres situated in the underrepresented countries will be
established to ensure access to and impact of the diagnostic research workstream in these countries. It
will consist of all centres contributing to the diagnostic research workstream, be led by UTARTU,
MUH and University Hospital Vilnius. The network will particularly focus on facilitating the access
to the diagnostic research workstream in these countries but also tailor the WP6 and WP7 activities to
the specific needs of these countries.
WP6 in coordination with WP7 will apply a phasing approach: Year 1-3: re-analysis approach
focusing on exome and genome data using a distributed approach and early adopters of a federated
approach; Year 4-7: re-analysis approach including long read sequencing data mainly using a federated
approach based on national 1+MG/GDI infrastructures.
To monitor and oversee sample and omics metadata collation, available cohorts, datasets, and data
types as well as conducted analysis and returning research results (most importantly newly diagnostic
patients), a dedicated CRN diagnostic research data management system will be implemented (T6.1
and T6.3). This data management system will be developed in WP15 following WP6 recommendations
and will build on the Solve-RD RD3 solution, the GPAP and its cohort module 6. T6.3 will apply this
data management system for returning results to data providers in a timely manner. The CRN
Diagnostic Research data management system will allow to monitor how time-to-diagnosis will be
shortened in the real-life (diagnostic) setting.
Objectives
The objectives of Year 1 are the following:
• Instigate the establishment of the CRN diagnostic data availability and collation effort that
comprises ERNs, national UDPs and national diagnostic centres so that 10,000 data sets can
be shared during the first 12 months.
• Instigate the implementation of data standardisation, sharing, federation and quality control so
that data analysis methodologies can be applied.
• Set up the processes to be able to access and federate the data during the project to enable the
re-analysis of large datasets and return research results to the clinics, to RD patients and their
families.
Description of Programmed Activities
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T6.1. Coordinate and consolidate the diagnostic research data availability and collation effort in
the diagnostic research workstream (M1-M12) TL: UT, CNAG, UTARTU. Contributors: CRG-
CERCA, UMCG, CIBER, ISCIII, Aalborg UH, AarhusUH, AOU Meyer IRCCS, APHP, CCRI GmbH,
CHU Dijon, Erasmus MC, IBG, IGC PAN, INSERM_IT-GGB, INSERM_U1112, INSERM_U974,
MUS, RCSI, REGIONSYD, UCAM, UNEW, UKCL, UNICAMPANIA, UNISI, UoC, VIB, VULSK, UO,
ERN HCPs, diagnostic centres and RD NMGs throughout Europe linked to ERNs and UDPs. T6.1.
aligns with GO:1; SO:2,5; OO:3,5.
DATA AVAILABILITY COMMITTEE: Data Availability Committee will be established to
coordinate data availability activities, encompassing both distributed and federated approaches. This
committee will comprise delegates from WP6, WP7, and WP8 from the CRN Diagnostic Research
workstream and WP14 and WP15 from the Data Hub workstream. Expertise will be organised in
several working groups and monthly calls will be planned during Year 1 to ensure outcomes delivery:
• Infrastructure working group: The WG will prioritise IT requirements and needs, focusing
on the transition from a distributed re-analysis model to a federated approach across the
diagnostics research workstream (WP6, WP7 and WP8), and align with GDI/1+MG and to
IT/Data Hub/streams, in particular WP15. Outcome Year 1: list of prioritised IT requirements
and needs distributed to all involved parties.
• Data policies working group: The WG will update, adapt and consolidate data policies and
agreements (data sharing within and outside consortium, data federation policies, code of
conduct, data protection impact assessment, publications, etc.). Outcome Year 1: data policies
approved and published in the project website.
• Standards and quality working group: The WG will update, adapt and consolidate
standards, minimum quality criteria and processes for omics, phenotypic and meta-data
collation and submission. This WG will align with international standards and
recommendations such as the ones from GA4GH and the GDI project for genomics
interoperability. Outcome Year 1: standards to be used and thresholds on minimum quality
criteria established for all type of omics data and phenotypic information to be submitted.
• Federated working group: a working group including diverse stakeholders engaged in the
creation of an EU RD federated model will be established, which will include participants
from the 1+MG RD use case, GDI, ERNs and diagnostic centres and the ERDERA Data
Services Hub. During Year 1, a workshop will be conducted with 1+MG and GDI delegates
to align, prepare, pilot and scale-up towards the federated re-analysis approach through the
development of interconnected CRN Diagnostic Research satellite ecosystems based on
development status of national 1+MG/GDI infrastructure. In collaboration with WP20,
different types of training activities (workshops, train the trainer, webinars, etc) will be
planned for the following years to transfer this federated capacity building into national nodes.
France and Sweden have already expressed their interest in joining the CRN Diagnostic
Research ecosystem adopting a federated model and will be approached to be involved as early
adopters. Outcome Year 1: roadmap for implementing the federated approach within the
CRN Diagnostic Research Workstream.
CENTERS ONBOARDING: Based on the interest received (> 50 diagnostic centres and programmes
from 22 countries) submissions will be prioritised for phase 1 (Year 1–3: exome and genome data)
according to centres data availability status, type of contribution (distributed or federated model) as
well as ethical and legal basis for data sharing. During Year 1, focus will be on data collation from
the distributed approach and early adopters of the federated approach in alignment with the outcomes
from the federated WG. Additional centres will be contacted together with initiatives across and
beyond EU to join the project as data submitters or collaborate with a federated discovery model.
Outcome M3: Prioritised list of data submitters centres based on interest received to start data collation
at M4. Outcome Year 1: Updated prioritisation list for Year 1 to 3, including new submitting centres
and/or federated nodes.
UNDERREPRESENTED COUNTRIES ONBOARDING: To ensure underrepresented countries
are well represented, all centres willing to participate in ERDERA will be informed and supported by
establishing a network of diagnostic research centres in underrepresented countries. This network will
be a central actor of the ERDERA diagnostic research workstream, and based on NMGs (WP23),
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ERNs (affiliated partners and full members from underrepresented countries) and interaction with Joint
Action JARDIN that includes all EU countries and 1+ MG. Monthly meetings will be established to
gather centres needs and concerns that will be transmitted to the Data Availability Committee.
Outcome Year 1: Underrepresented countries network established and periodic communications
ongoing.
DATA MANAGEMENT SYSTEM: A data management system based on the RD3 platform used in
Solve-RD will be implemented in collaboration with ERDERA WP15. Preliminary work will be done
towards identifying missing needs and requirements to ensure all information is available in this central
database and compatible with a federated approach. Special focus will be made to ensure proper
metadata collection of the different types of omics, tracking of results generated within the project by
WP7 and WP8 and ensuring feedback from the data interpretation task forces implemented in WP7 is
included to enable tracking of newly diagnosed patients for returning of results to national centres in
T6.3. Outcome Year 1: Requirements and needs of the CRN Diagnostic Research workstream to be
developed in Data Management System have been identified and reported to WP15.
T6.2. Data standardisation, sharing, and federation (M1-M12) TL: CNAG, UTARTU, CAD.
Contributors: UT, CRG-CERCA, UMCG, RS, GMS-RS, NKUA, UANTWERPEN, IPG,UO, Aalborg
UH, Aarhus UH, AOU Meyer IRCCS, APHP, CCRI GmbH, CHU Dijon, Erasmus MC, IBG, IGC PAN,
INSERM_IT-GGB, INSERM_U1112, INSERM_U974, MUS, RCSI, REGIONSYD, UCAM, UNEW,
UKCL, UNICAMPANIA, UNISI, UoC, VIB, VULSK, UO ERN HCPs, diagnostic centres throughout
Europe linked to ERNs, RD NMGs and UDPs. T6.2. aligns with GO:1; SO:2,5; OO:2.
COLLATION OF THE FIRST 10,000 REAL DATASETS: Based on the centres prioritisation
defined and in alignment with the standards agreed in T6.1, pheno-clinical information together with
its corresponding omics metadata and files will be collated, mostly exome and genome data in Year 1.
Data entry point for genomic and phenotypic information in Year 1 will be consolidate through the
RD-Connect GPAP and distributed to the different data hubs for downstream analysis and/or provided
by the implementation of a federated approach (see T6.1), linking ERDERA CRN satellite ecosystems.
We will collaborate with ERDERA to help data submitters that might not have clinical data in a
standardise format to access clinical data readiness services developed within T14.1. Outcome Year
1: 10,000 harmonised datasets from the distributed and/or federated approach are available in the CRN
Diagnostic Research Ecosystem.
METADATA CENTRAL REPOSITORY: To ensure all clinical information and metadata
submitted through the RD-Connect GPAP or satellite federated systems is linked/transferred to the
CRN data management system for coordination and partners to access and T6.3 to track files
distribution and results. In Year 1, a similar instance of the Solve-RD RD3 data management system,
meaning that some of the required fields and needs identified in T6.1 might not be available when the
first datasets will be submitted/ federated, and information will be completed retrospectively if needed.
Outcome Year 1: All metadata and clinical information collated and possible to be stored in the CRN
Diagnostic Research Data Management System is available for the first 10,000 datasets.
DATA QUALITY CONTROL: Based on the data quality requirements established in T6.1, identify
automated data quality control checkpoints for each type of data including phenotypic information,
genomic information and other omics data. For example, for phenotypic information, if a minimum
set of HPOs is requested, the system will enable identification of cases with less terms. Same would
apply for minimum depth of coverage for exomes and genomes, etc. For datasets that do not pass a
specific threshold, the CRN diagnostic research submission helpdesk will inform submitters and a
decision on how to best proceed will be taken in agreement.
SUBMISSION SUPPORT: A “submission toolkit” including guidelines about standards and quality
threshold established in T6.1, and short videos on how to submit clinical information and different
types of omics metadata and files will be created and distributed among all data submitters. A dedicated
CRN diagnostic research submission helpdesk to help resolving data submitters issues and doubts will
be created involving members from all resource submission parties.
T6.3. Data access and returning research results (M1-M12) TL: UT. Contributors: CNAG, CRG-
CERCA, UMCG, CAD, RS, GMS-RS, NKUA, UANTWERPEN, CENTOGENE, IPG, UO, Aalborg UH,
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Aarhus UH, AOU Meyer IRCCS, APHP, CCRI GmbH, CHU Dijon, Erasmus MC, IBG, IGC PAN,
INSERM_IT-GGB, INSERM_U1112, INSERM_U974, MUS, RCSI, REGIONSYD, UCAM, UNEW,
UKCL, UNICAMPANIA, UNISI, UoC, VIB, VULSK, UO, ERN HCPs, diagnostic centres throughout
Europe linked to ERNs and UDPs, RD NMGs. T6.3. aligns with GO:1; SO:2,5; OO:2.
DEFINITION OF THE TYPE OF DATA TO BE AVAILABLE Engage with the CRN data
analysis hubs and ERDERA RD stakeholders, including researchers, clinicians, and patient advocacy
groups, to gather input on which type of data is needed to be accessible for re-analysis, including
analysis results. This work will be done in alignment with suitable GDI recommendations. Outcome
Year 1: List of data types recommended to be made available to the RD Community.
DATA DISTRIBUTION ACROSS THE CRN DIAGNOSTIC RESEARCH ECOSYSTEM: The
European Genome-Phenome Archive (EGA) infrastructure will be linked to the CRN Diagnostic
Research ecosystem and established as the central data repository for the distributed approach,
guaranteeing data distribution and sustainability throughout the ERDERA project. The 10,000 REAL
datasets collected in T6.2 during Year 1 of the distributed approach will be made accessible for
distributed analysis in WP7 and WP8 data hubs. To ensure GDPR compliance and prevent data from
leaving Europe, the EGA Spanish node located in Barcelona will be used, creating a secure and
compliant environment for data handling in ERDERA. Outcome Year 1: data from the first 10,000
datasets collated through the distributed approach is made available to data hubs.
RETURNING OF RESEARCH RESULTS: Together with WP7 and WP8 and in alignment with
GA4GH policy recommendations, a comprehensive results workflow will be established to ensure
diagnostic findings from the CRN Diagnostic Research ecosystem are returned to national centres.
This process will facilitate the subsequent dissemination of information to patients and their families.
Outcome Year 1: meeting with all involved stakeholders to define a results-return workflow and
identify needs and requirements to be implemented.
Additional deliverables (additional to those included in part B of the proposal)
Deliverables related to T6.1:
• Report on Data Availability Committee establishment and organigram (M6)
• List of standards and minimum quality criteria for data submission (M6)
• List of prioritised submitting centres, including early adopters of the federated approach
(M12)
• Identification of additional requirements and needs of the CRN Diagnostic Research
workstream to be developed in Data Management System (M3)
Deliverables related to T6.2:
• 10,000 harmonised datasets from centralised and/or federated approaches available in the CRN
Diagnostic Research Ecosystem (M12)
• Data collation toolkit (M3)
Deliverables related to T6.3:
• List of data types recommended to be made available to the RD Community (M6)
• Report on results return workflow to national centres and beneficiaries (M12)
Set of Activities 7 Start Date or Starting Event M1: September 2024
Number
Set of Activities Genome re-analysis research pipeline
Title
Short name of CNAG SRUM UT (8) CAD (1.1) UU CENTOGENE ISCIII
participant & (10) C (11) (121) (43) (72)
(No)
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Person 27 33 18.0 6.0 6.0 3.6 6.0
Months
Short name of KU Leuven (77) INSERM_U974 (1) UNEW*(169) CHEO-RI* (152)
participant&
(No)
Person 1.2 1.2 6.0
Months
Start month M1 End month M12
*Associated partners providing in-kind contribution
State of the art behind this WP
Despite improvements in diagnostics and research possibilities for RDs, now providing access to
exome and genome sequencing, the genetic basis for 33% (3,032 of 9,321, OMIM accessed 18-08-
203) of suspected Mendelian RD remains elusive. In healthcare systems, where exome sequencing or
genome sequencing are becoming standard of care, the diagnostic yield varies between 20-70%
depending on the type of RD, inclusion criteria, sequencing strategy, and analysis standards [1,2],
leaving many patients without a diagnosis. Although it has been shown that genomic data re-analysis
alone can increase the diagnostic yield, in absence of guidelines on reanalysis strategies, it is not
routinely undertaken due to the time and multidisciplinary expertise required, and associated costs.
However, the EU project Solve-RD has recently shown that an ERN-focussed and cost-efficient state-
of-the-art, comprehensive, and systematic re-analysis effort of exome and genome data increased
expertise levels, yielding >12% of novel diagnoses, based on newly described disease genes, as well
as improvements in identification, annotation, and interpretation of genomic variants. In more detail,
bioinformatic experts from participating RD centres joined themselves into Data Analysis Task Forces
(DATF) which, organised in Working Groups, implemented state-of-the-art and innovative methods
to call and annotate all types of variants (SNV/InDels, including dedicated mtDNA analysis and non-
canonical splice sites, CNVs, STRs, MEIs and SVs in general), providing a uniform and systematic
analytical framework for all individuals with a RD. The analysis was fuelled by a distributed
infrastructure, including the RD-Connect GPAP (data ingestion, SNV/InDel calling and a user-friendly
interface), three HPC clusters (for amongst others, SV calling, and de-novo mutation analysis), a Cloud
infrastructure (for specific analyses conducted by non-EU partners as well as data storage and sharing)
and the EGA (for data transfer/sharing between partners). A database called RD3 enabled tracking the
data within the infrastructure. The molecular and clinical expertise available across the ERN were
joined within ERN-specific Data Interpretation Task Forces (DITF). The DITFs systematically
prioritized the variants through exchange of expertise and up-to-date knowledge to identify new
diagnoses, which they reported back to the patients through the referring HCP. With this structure,
Solve-RD has provided the largest pan-European genome research re-analysis effort to date, including
data from 6 ERNs and 1 UDP (EURO-NMD, ERN GENTURIS, ERN ITHACA, ERN-RND, ERN
EpiCARE, ERN RITA, and UDP-Spain).
Although this approach has worked well, 18 other ERNs have not yet benefitted from the
complementary expertise levels available across ERNs, nor have other UDPs or national RD diagnostic
centres. Moreover, it is necessary to move towards a federated system to enable the participation of
centres which cannot submit to a distributed infrastructure, but also for scalability and sustainability
reasons. The latter would also allow for a more extensive collaboration with other international large-
scale RD initiatives (e.g. Care4Rare Solve, UDN-Australia, US UDN, UDN-I, Genomics England,
DECI HER, Japan) thereby addressing IRDiRC’s Goal 1 that all currently undiagnosable individuals
enter a globally coordinated diagnostic and research pipeline for continuous reanalysis and access to
the most innovative data strategies. Although it is necessary to move as fast as possible from a
distributed data re-analysis model to a federated one, there are several challenges that will require close
multidisciplinary collaboration and innovation. The Genomic Data Infrastructure (GDI) project “is
enabling access to genomic and related phenotypic and clinical data across Europe. It is doing this by
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establishing a federated, sustainable, and secure infrastructure to access the data. It builds on the
outputs of the Beyond 1 Million Genomes (B1MG) project and is realising the ambition of the
1+Million Genomes (1+MG) initiative”. However, although 1+MG has a Working Group on RDs and
B1MG did the Proof on Concept on RDs, GDI does not include a use case on RDs, and specially not
on data re-analysis. Therefore, WP7, in collaboration with the whole CRN Research Diagnostics
Stream and the Data Services Hub, aims to contribute to the design, planning and implementation of
the federated re-analysis use case in coordination with 1+MG/GDI, clinical partners and data
scientists.
Methodology
WP7 will coordinate and apply a genomics diagnostic research pipeline, aiming to move from a
distributed infrastructure to a federated infrastructure within European, and with similar efforts
internationally (United Kingdom, Canada, Australia). Clinical and molecular geneticists' expertise will
be organised in super-DITFs (Data Interpretation Task Forces), set up according to similarity of disease
groups and number of available datasets. Bioinformatics expertise will be organised in a single DATF
(Data Analysis Task Force) with several Working Groups (WGs). Coordination within groups will
happen in monthly online meetings, and between group coordination will happen in a bi-monthly
online meeting between all the groups. ‘Data challenges’ for WGs will be organised yearly to allow
for continuous evaluation and evolution of the pipelines, whereas 'Solvathons’ coordinated by the
DITFs will be held annually to engage all HCP submitters in finding novel diagnoses and providing
hands-on experience in interpretation of novel data sets. This DITFs-DATF structure will allow a
patient(/family)-centred clinical research evaluation. Moreover, this evaluation will move beyond the
coding sequence, and will include the evaluation of potential disease-causing variants in the non-
coding space, through global integration with other international RD programs from the countries
mentioned above, helping to uncover the extent to which non-coding DNA variants play a role in
disease.
Right from the start of the project WP7 will pursue, in parallel, a distributed and a federated re-analysis
approach. In Years 1-3, the Solve-RD based reanalysis pipeline will be upscaled for existing short
read exome and genome datasets from ERNs, using reference GRCh38 and relying on WP15 to
develop portable virtual research environments and pipelines to facilitate the federated reanalysis
approach. This will be used for the design and implementation of a first federated reanalysis network
which will be facilitated through meetings with representatives from countries not able to submit data
to the ERDERA distributed infrastructure, as well as through participation in 1+MG discussions and
leveraging the GDI network. Of note, although the CRN-Diagnostic workstream, and more specifically
WP6 and 7 (with support from WP15), is anticipated to leverage GDI developments and GA4GH
standards such as Beacon and htsget, as well as MatchMaker Exchange, the CRN focusses on solving
the genetic aetiology underlying RD of individual patients, being an ERDERA workstream, not driven
by GDI and/or 1+MG. Later, as the project advances, the CRN will move predominantly into federated
analysis sharing data-analytical tools and coordinating interpretation with initially EU-partners from
Sweden and France, but later also with partners non-EU partners i.e., Canada, United Kingdom, and
Australia, while considering ELSI-related aspects, and aligning with WP25 on further internal capacity
building. In coordination with WP8, WP7 partners will test and incorporate other innovative types of
genomics data (such as long read genomes, LRS), analysis methods and interpretation approaches,
such as the integration of other -omics data to enhance diagnostic yield, and with support of WP16
novel avenues of (AI-based) phenotype collection, including antenatal phenotypes, will be explored to
optimize diagnostic outcome.
Dissemination of results will be achieved via publications, as well as upload of pathogenic variations
to international databases (in collaboration with WP6.3). Moreover, implementation guidelines on the
successful reanalysis strategies will be provided to promote integration into local health care services,
alongside the illustration of useful knowledge bases and annotations to provide easy and direct
information on and access to therapeutic opportunities (linked to WP12). Finally, training and capacity
building will be channelled through WP20, mainly T20.3.
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Objectives
The main objective of WP7 is to coordinate a diagnostic research pipeline to re-analyse existing
genomic data from undiagnosed RD patients to increase diagnostic yield and reduce time to diagnosis.
The specific objectives for Year 1 are:
• Initiate the coordination of a pan-European genomics diagnostic research pipeline beyond
the state-of-the-art diagnostic pipeline.
• Start the re-analysis of existing data following a distributed approach while starting
preparations for a federated model to discover novel diagnoses.
• Kick-start the organisation of variant interpretation and the development of best practices to
improve this activity across disease groups and ERNs.
Description of Programmed Activities
WP7 will achieve its objectives through 4 main tasks (Figure 1) and collaboration with the other CRN
Research Diagnostics stream WPs (WP6 and WP8), the Data Services Hub, ERNs and UDPs. For the
transition to a federated approach, WP7 will count initially on the expertise provided by partners from
Sweden and France, although it will welcome the participation of partners from other countries,
including from outside the EU. Figure 1 provides a schematic representation of WP7 and its main
interactions.
Figure 8. Schematic representation of WP7. Work package 7 will consist of 4 tasks together allowing
harmonized, distributed + federated analysis and interpretation of existing dataset of individuals with
undiagnosed RD, all collected in implementation guidelines on reanalysis strategies in everyday
clinical care. Links with WP6, for data collation, and WP8 for innovative genomic applications, are
also shown. Black arrows indicate direct interactions/ connections between tasks. Additionally,
support is provided by Data Services Hub WP15-16. Light grey dotted arrows indicate indirect
interactions for supporting federated interpretation.
T7.1. Exome and genome re-analysis pipeline coordination and monitoring (M1-M12) TL: UT,
CNAG, SRUMC; Contributors: CHU Dijon, UNEW, UGENT, ISCIII, CAD, UU, CENTOGENE,
CHEO-RI*, UMCG, EURORDIS, CIBER. T7.1. aligns with GO:1; SO:5; OO:2,3,5.
Several task forces, working groups and a committee will be established to coordinate and monitor the
activities. One Data Analysis Task Force (DATF) and three super-Data Interpretation Task Forces
(DITFs; see T7.3) will bring together the expertise from data analysis and clinical researchers. The
DATF will have 3 co-leads, and the super-DITFs will have two co-leads each (see T7.3). They will
form the “ ipeline coordination and monitoring committee”, which will also include early adopters of
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the federated approach from EU (e.g., Sweden and France) but also from non-EU countries such as
Canada, Australia, and UK. The committee will jointly coordinate and monitor the continuously
revised CRN standard diagnostic research pipeline for REAL data (e.g. standardized HPO-based
phenotypes, pedigree information and genetic data), which should be applicable in both a distributed
and federated manner. The starting point will be the Solve-RD re-analysis pipeline using GRCh38
reference genome. The committee will also coordinate and monitor the actual re-analysis strategy (e.g.,
data freezes, prioritization and monitoring of re-analysis projects, interpretation strategy, participating
groups and timelines, summarizing and reporting of results and findings) and engage with other WPs
(e.g., WP6, WP8, Data Hub). In Year 1, this task will establish the Data Analysis Task Force (DATF),
the ERN-specific data interpretation task forces (DITFs) and three super-DITFs and the “ ipeline
coordination and monitoring committee” (Figure 1). The leads of these task forces will decide the first
priorities and set up the first working groups, as well as the organisation of the consultation approach
to enable participation of relevant stakeholders and a fair decision-making process. The objective is to
prioritise the activities, determine analytical pipelines and interpretation strategies. While the focus
will be initially the distributed approach, the task will also consider, in collaboration with WP6 and
the DSH, the federated approach from the start to ensure that the activities can be transitioned to that
model as soon as possible (see Figure 9).
Figure 9. Schematic representation of shift from distributed to federated approach. The ultimate
goal is a federated approach for reanalysis of existing data to facilitate new diagnosis. At the start of
the project, however, a federated approach will not yet be possible requiring a distributed analysis of
data. The CRN and Data Services Hub will collaborate on providing operationality and deployment
aspects for a federated approach and will also closely align with B1+MG/GDI.
T7.2. Standardised exome and genome re-analysis beyond state-of-the-art diagnosis (M1-M12)
TL: CNAG, CAD; Contributors: UT, SRUMC, UU, CENTOGENE, CHEO-RI*, UMCG,
INSERM_Orphanet, CIBER. T7.2. aligns with GO:1; SO:1,4,5; OO:1,3.
In Years 1-3, the distributed Solve-RD-based standardized research re-analysis of REAL data from
unsolved cases (including relatives, as available) will be upscaled. Facilitated by planning and internal
developments and pilots (WP6, WP15) as well as 1+MG/GDI advances in Years 1-3, the federated
research re-analysis approach will predominantly be used from Year 4, at the latest. The pipeline used
will be coordinated in T7.1 and developed in T15.2 for easy portability, key for both a distributed and
a federated approach. The distributed analysis will be done initially in 3 main Solve-RD clusters
(CNAG, UT, SRUMC) and the RD-Connect GPAP. Other clusters and platforms will be able to join
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for the distributed or federated approach after evaluation and approval by the T7.1 Committee, taking
also into consideration T13.1 evaluation on technical requirements and VP specifications compliance.
T15.3 will take care of piloting use cases for federated analysis. The first 18M will focus on exome re-
analysis, moving to srWGS afterwards and including long read genomes later one (informed by WP8).
In line with this, the initial focus will be on coding regions, with an increasing focus on non-coding
regions. The analysis will include all types of genetic variants (SNVs/InDels, somatic/mosaics,
mtDNA, SVs in general like CNVs, STRs and MEIs).
In Year 1, the aim is to analyse the first 7500 REAL datasets (mostly exomes) in a distributed fashion
for all variant types (basically in coding regions), as well as to evaluate federated data strategies for
re-analysis operations with partners requiring federated approaches, including industry. The output
will be periodic reporting of selected variants to DITFs in T7.3 for interpretation; methods for filtering
may include information derived from matched (multi-)omics analyses or (AI-based) phenotypic-
similarity, including antenatal phenotypic information (WP16). The workflow will rely on a system
developed and served by T15.2 to deliver the variants to the DITFs where they will be able to provide
feedback.
T7.3. Innovative exome and genome re-analysis (M7-M12) TL: SRUMC, ISCIII; Contributors:
CHU Dijon, UGENT, UNEW*, CENTOGENE, RS, GMS-RS, IMAGINE, CHEO-RI*. T7.3. aligns with
GO:1; SO:1,4,5; OO:4,5.
In this task, all REAL datasets of individuals with RD of unknown genetic origin will be re-interpreted
using the results from T7.2 with the main aim to find new diagnoses to be reported back to the
individual RD patients. To allow for efficient interpretation, and uniformity across all disease groups,
3 super data-interpretations task forces (super-DITFs) will be installed. Each super-DITFs is
responsible for multiple disease groups/ERNs, which will be combined based on overlap in clinical
spectra, such as for instance ERN ITHACA, EpiCARE, ERN CRANIO, and MetabERN, as well as
Euro-NMD and ERN-RND, or based on national undiagnosed disease networks/programmes, such as
for UDP Spain, CIBER-ER Spain and FTELE and/or requiring similar analysis strategies such as rare
cancers. DITF-leads will coordinate with data analytical task forces (DATFs) on processing of REAL
data sets and feedback of results. Initially, focus will be on distributed interpretation of known disease
genes and existing exome and short read genome datasets, as has also successfully been done in the
Solve-RD project. With access to large datasets, novel disease genes will be sought by innovative
statistical approaches and paradigms other than classic monogenic disease as well as novel variant
prioritization algorithms via federated approaches. When available, analyses and interpretation will
also involve other omics datasets such as long-read genomes (contributing partners for existing
datasets and WP8 for novel datasets). The main activities for T7.3 are:
• Plan and implement variant interpretation to diagnose RD patients: from a distributed to a
federated approach and using (AI-based) prioritization tools on both genotype and
(standardized) phenotypes.
• Evaluation of genetic variants (provided by analysis WGs) by DITFs members in the clinical
context and providing the new diagnosis to the patients with RD.
• Share expertise between DITFs/ERNs and contributing partners.
• Develop best practices for routine variant interpretation.
• Co-develop and test additional interpretation approaches with the DATF and WGs Joint data
re-analyses across ERNs and UDPs (e.g., for novel gene discovery, and alternative inheritance
patterns) and other large databases on RD (e.g., Care4Rare, DDD).
• Development and application of novel analyses methods not yet part of the best practices for
routine variant interpretation approaches, including non-coding variation.
• Functional validation to prove pathogenicity of variants for known and novel disease-genes.
In Year 1, T7.3. will suggest DITF leads for the individual ERNs and UDPs from all participating
centres (overview of centres in WP6), which will be consolidated by T7.1. In addition, leads of 7.3 in
coordination with WP6 and ERDERA ethical and legal experts, provide support to local HCPs in ELSI-
and IRB challenges related to data sharing, using best practice examples from the solve-RD project.
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This is a key activity to ensure that data made available for re-analysis is then also available for
distributed or federated interpretation. T7.3. will also initiate the interpretation of the first 7,500 REAL
datasets analysed in T7.2. and will determine the best interpretation strategies per variant type. Also,
in preparation of the inclusion of antenatal phenotypes, WP7 will link to WP6 and WP16 to determine
a proof-of-concept use case on the use of antenatal phenotypes.
T7.4. Propagation of knowledge and best practice guidelines (M1-M12) TL: KU Leuven,
INSERM_U974; Contributors: CAD, IBG, ISCIII, SRUMC, EURORDIS, CNAG. T7.4. aligns with
GO:1; SO:1,2; OO:1.
The CRN-diagnostic workstream requires translation of the most successful approach into clinical
service at healthcare institutes. To advertise the work of WP6, WP7 and WP8 and incite people to
adapt the re-interpretation tools and novel technologies, guidance is needed. In practice, the outcome
of T7.2 and T7.3 must be captured in best practice guidelines, and the instructions must be matched
with the needs of the potential users in the clinical diagnostic centres, and with international ISO-
norms for medical laboratories, IVD-Regulation, GD R and regulatory requirements. ‘Guidelines for
diagnostic next generation sequencing’ and ‘Recommendations for whole genome sequencing in
diagnostics for RDs’ have been issued in 016 and 0 respectively, under the auspices of the
European Society of Human Genetics (ESHG) and EuroGentest. The experience will be used to
provide user-oriented implementation guidelines. Stakeholders will be reached out via the National
Mirror Groups (WP23), and training to the community will be provided via T20.3.
To shorten the pathway to diagnosis and to treatment, two translation tools will be targeted. First, the
identification of molecular diagnoses may provide (in)direct leads for therapeutic strategies in n=1 or
n=few trials (WP12). To readily identify genes and variants amenable to such therapeutic strategies,
links with other repositories and annotation are required, such as knowledge on the Treatabolome
(WP16) and/or other actionable variants. Second, it is important to illustrate the usefulness of
knowledge base and ontologies (WP16) by assessing how they perform in clinical context. The goal is
to warrant that ORPHAcodes and other tools are used in the clinic, right from the start of the diagnostic
process. Finally, there is a need to evaluate the use of the above, and to identify future bottlenecks in
the real world. T7.4 will therefore focus on two entities:
1. Provide implementation guidelines to promote implementation in health care services,
including:
• Description of the protocols developed/used in this WP (WP7, T7.1, T7.2 and T7.3), in
WP6 (data availability), and with an outlook towards WP8 (genomic innovation to shorten
tile to diagnosis) and towards RD maps (T16.4 in WP16: knowledge bases and
ontologies).
• Compilation and integration of (inter)national guidelines on variant interpretation for use
in clinical diagnostics (based on approaches and output of T7.2 and T7.3).
• Evaluation of legal implications of variant interpretation in a clinical setting while defining
the legal status of interpreted data in relation to the (electronic) medical record of patients.
• Evaluation of cost-effectiveness of clinical reanalysis of existing datasets (based on
approaches and output of T7.2 and T7.3).
2. Illustrate the usefulness of knowledge bases and ontologies and evaluate how they perform in
a clinical context, including:
• Explanation of (the links to) treatabolome, MAxO ontology, therapeutic trials, etc. (Link
to WP16 knowledge bases and ontologies T16.3).
• Promotion of the use of ORPHACodes and other ontologies directly right from the start
in clinical practice and the evaluation of the yield of these tools (link to WP16 T16.5).
In Year 1, TLs of T7.4 (or delegated thereof) will witness the processes starting in T7.2. and T7.3
for informed initiation of the T7.4. specific tasks in Year 2.
Additional deliverables (additional to those included in part B of the proposal)
None
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Set of Activities 8 Start Date or Starting Event M1: September 2024
Number
Set of Activities Diagnostic Research Workstream - Genomic innovation to shorten time
Title to diagnosis
Short name of SRUMC VULSK TUM UT (8) UMCG (6) CCRI MUH (81)
participant & (11) (27) (12) GmbH
(No) (42)
Person Months 33 6 21 4.5 3 6 6
Short name of UCL* CUH* CHEO-
participants & (174) (171) RI*
(No) (152)
Person Months
Start month M1 End month M12
*Associated partners providing in-kind contribution
State of the art behind this WP
This WP will enable the most innovative (gen)omics approaches for RD diagnostics and research. This
WP consists of two parts: 1) the envisioned work will lead to a more complete understanding of RD
by a truly complete human genome analysis, 2) new innovative transcriptomics and other -omics
approaches shall drastically improve the variant interpretation for RD. These innovations will change
diagnostics of RD significantly and shall enable a molecular/genetic diagnosis for the very first time
for so far ‘unsolvable diseases’, and shall individually or jointly shorten the time to an RD diagnosis.
This WP shall demonstrate how the innovative methods applied shall set new standards, by providing
a truly generic approach by long-read genomes to all RD with a significantly reduced turn-around time,
compared to currently practiced cascade testing. This shall thus make RD diagnostics more generic,
remove redundant workflows, and ultimately result in more economic, rapid, and successful RD
diagnostics.
Exome and genome sequencing are being used as the standard of care diagnostic assays for RD.
However, recent efforts have shown that even short-read genome sequencing data are incomplete and
miss a significant proportion of clinically relevant variation. Here, WP8 aims to utilize
(provided/matched as well as newly produced) latest long-read genomics methods, to a) identify so far
hidden variants; b) ultimately provide a generic genome test that allows full resolution of all variants
to the benefit of all RD patients.
In parallel, WP8 will utilize the latest transcriptome, epigenome and other -omics technologies that are
provided by all partners (WP6-8). These shall assist to pinpoint the disease-causing variants from
complete genome analyses. This will warrant reducing the VUS (variants of unknown significance)-
challenge significantly and set new standards in variant interpretation for RD research and
diagnostics.
As for WP6 & WP7, WP8 aims to bring expertise and data together, but also to produce new data with
latest technologies, especially enabling clinics and laboratories in underrepresented countries to have
access and knowledge faster in turn achieving faster RD diagnoses. WP8 will have very close
interaction with many ERDERA partners, with strong emphasis and interaction WP6&7; e.g. any
innovation that benefits the move from distributed to federated analyses shall benefit WP6-8. The
return of results to referring clinicians and thus patients in WP8 will benefit from methods deployed
in WP6 (T6.3).
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Methodology
Here, WP8 aims to use the consortium's expertise as pioneers in genomics, in particular in long-read
genomics and multi-omics data integration technologies. The first part entails both leading long-read
sequencing (LRS) platforms nanopore sequencing (ONT, Oxford Nanopore Technologies, UK) and
HiFi sequencing (PacBio, USA) as well as optical genome mapping (OGM, Bionano, USA); each
enabling to detect missed or hidden variants, in particular structural variants, that escape short-read
methods.
LRS furthermore enable a complete human genome analysis as recently demonstrated by the T2T
consortium (Nurk et al. Science 376,44-53(2022)), including highest sensitivity to all variant types
(SNV, InDel, SV, STRs, etc.), with demonstrated utility to detect de novo mutations of all kinds
(Kucuk et al. Genome Med. 8;1 (1): ( 0 )). This also allows access to “dark regions” of the human
genome that were largely inaccessible, including highly homologous sequences and genes with
pseudogenes. LRS also allows for phasing and assembly - ultimately allowing the near-perfect genome
analysis, which shall speed up diagnostics for many RD in the future. One additional feature of LRS
is that DNA-modifications can be detected, DNA-methylation which shall be utilised in this WP
(epigenome analysis). The goal is to provide a fully complete and generic workflow for all RD patients,
resulting in significantly accelerated RD diagnoses and the most impactful diagnostic innovation for
RD ever.
WP8 will optimise and apply tools that go beyond the DNA level, and connect leaders in genomics
and multi-omics analyses with RD experts to improve RD diagnoses and deliver tools and expertise to
our partners. Strong focus will be on transcriptome (short and long-read RNA-seq datasets) and
epigenome data (existing and produced here as part of the long-read genomes). This data will reveal
gene regulatory aberrations helping the functional interpretation of genetic variants. Here too, efforts
will be made in monitoring and continuously improving time spent at every step of the diagnostic
chain. All pipelines, software developed and tested here shall be released (see milestones and
deliverables), and releases shall be coordinated in collaboration with the Data Service Hub (DSH),
furthermore WP6-8 shall interact closely with DSH for any innovations to integrate patient data
(phenotype HPO, EHR, etc) that can be integrated with genomic and other data from WP6-8 (RD-
REAL).
Objectives
The main objective of this WP is to establish the most innovative diagnostic approaches for RDs to
enable a significantly shorter diagnosis time. The innovations provided here shall provide truly generic
genomic analyses by full genome analysis and interpretation, accelerating RD diagnostics throughout
Europe. The significantly improved diagnostic yield of RDs, will be crucial to make more RD families
amenable to actionability, therapy and improved care.
In Year 1, our objectives will cover initial steps:
• Enabling Access Of Complete Genome Sequencing For RDs. In Underrepresented Countries
• Enabling Complete Genome Sequencing And Analysis For RDs. To Shorten Time To
Diagnosis
• Enabling Complete Genome Mapping Data
• Establishing New Genomics (Transcriptomics) Analysis Capabilities
• Establishing New Multi-Omics Data Integration Approaches To Shorten Time To Diagnosis.
Description of Programmed Activities
T8.1. Enable inclusion of underrepresented countries into innovative RD diagnostic research
(M1-M12) TL: MUH, VULSK, Contributors: SRUMC, TUM, CNAG, UT. T8.1. aligns with GO:1;
SO:1,2,4; OO:1-4.
This task aims to connect European and global RD clinicians even more, by fostering the reach of
scientists and patients from underrepresented countries. This task will actively collaborate with WP23
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and WP24, and RD diagnostic centres shall be identified via National Mirror Groups. WP8 contributors
will specifically aim to educate a network of RD-experts in selection of RD patients and families to
demonstrate the revolutionary impact of long-read genomic technologies. This task will coordinate the
case and sample selections for the use cases in T8.2. and T8.3. All sample selections will benefit from
ethics and regulatory advice and support in respective ERDERA dedicated WPs/tasks. This capacity
building connects all European RD experts, leads to the best RD case selection and a strong
demonstration of new diagnoses in so far undiagnosed RD, and significantly faster diagnoses in
general. This task will coordinate the case and
The RD network across Europe will be initiated with emphasis to involve clinicians, scientists
and patients from underrepresented countries in Year 1: with jamborees/meetings to explain use
cases for long-read sequencing (LRS) and optical genome mapping (OGM), develop case selection
instructions, and arrange biomaterial shipment for first long-read technologies batches form
underrepresented countries. Moreover, the first training and education actions in selection of RD
patients and families will be performed, but also educate on the use and outcome of long-read
technologies for the use cases in the T8.2 and T8.3. Notably, MUH will organize one RD jamboree in
person (F2F), additional efforts will utilize online platforms in collaboration with VUHSK.
T8.2. Enable complete long-read genome sequencing and analysis for RD to shorten time to
diagnosis (M1-M12) TL: SRUMC, UT; Contributors: UMCG, CHEO-RI*, TUM, CNAG. T8.2. aligns
with GO:1; SO:1,2,4; OO:1-4.
This task aims to provide RD-optimized long-read sequencing (LRS) pipelines to the RD community.
These shall be tested on selected use cases (close interaction with T8.1), and guarantee respective bio-
sample readiness, to provide evidence that LRS will diagnose a significant proportion of undiagnosed
RDs, and significantly reduce time to diagnoses. The use cases data shall be analysed by our LRS
experts (DATF) and shared in manageable forms with the respective disease experts (DITF/ERN).
Ultimately the tests, and analysis pipelines developed here provide a truly generic germline genetic
test for all RDs that can innovate diagnostics across Europe (and associated countr ies).
In Year 1, the long-read sequencing readiness for RDs will be established. This will mean that strategic
partners within CRN network will be explored to provide (cost-)effective and timely long-read
sequencing (based on the two dominant technologies: PacBio and ONT). Also, T8.2. will test and
optimize long-read sequencing analysis pipelines for comprehensive RD research (on already available
and newly produced data). Moreover, T8.2. will work towards the inclusion of first use-cases. Notably,
the first new data production for RD cases selected from underrepresented countries will be generated.
The partner SRUMC will organize and hold a face-to-face DATF meeting for long-read sequencing.
Under best circumstances LRS will already contribute to solving undiagnosed RD cases – showcasing
the more effective diagnostic potential for the next years.
T8.3. Enable complete genome mapping for RD to shorten time to diagnosis (starts M13) TL:
SRUMC, UCL; Contributors: TUM, CNAG, UT. T8.3. aligns with GO:1; SO:1,2,4; OO:1-4.
This task aims to provide RD-optimized ultra-long-read optical genome mapping (OGM) pipelines to
the RD community. These shall be tested on selected use cases (close interaction with T8.1) and
guarantee respective bio-sample readiness (T8.2), to provide evidence that OGM will diagnose a
significant proportion of undiagnosed RDs, and significantly reduce time to diagnoses. The use cases
data shall be analysed by our OGM experts (DATF) and shared in manageable forms with the
respective disease experts (DITF/ERN). The long-read tests, analysis pipelines, and tests developed
here, shall demonstrate the added value of long-read technologies aiming towards a holistic genome
analysis that can innovate diagnostics across Europe (and associated countries). This task is
complementary to T8.2, and in part can de-risk aims of T8.2. In case some European countries cannot
follow a generic LRS test for RD, the combined effort of standard exome/genome analysis with OGM
may also provide a ‘near perfect RD genome analyses. Hence, this task also adds to the democratisation
of RD diagnostics.
In Year 1, the WP leaders will make the first step into optical genome mapping readiness for RD, e.g.
T8.3. will explore strategic partners within CRN network to provide (cost-)effective and timely OGM
data production. Specifically, the WP8 contributors will comparatively assess and identify potential
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partner(s) to generate the optical genome mapping data within the CRN network and prepare pipelines
for comprehensive data analysis of structural variants (SVs) based on already available data within
CRN. WP 8 contributors shall provide instructions/SOPs for biomaterial shipment based on use cases
defined in T8.1.
T8.4. New genomics (transcriptomics) analysis capabilities to understand genetic variation in
RD (M1-M12) TL: TUM, CCRI GmbH; Contributors: CUH, IBG, CNAG, SRUMC, UT. T8.4. aligns
with GO:1; SO:1,2,4; OO:1-4.
While, in principle, the information about the genetic disease causes lies in the DNA, the functional
interpretation of all genomic variants of an individual remains difficult, notably for non-coding
variants. By probing directly regulatory impact regarding the expression levels and the integrity of
mRNA sequences (e.g. altered through aberrant splicing), bulk RNA-seq analysis has emerged as a
powerful complementary approach to genome analysis for pinpointing genetic causes of RDs. In
addition, the recent advent of single-cell RNA-seq (scRNA-seq) approaches in RD provides another
layer identifying cellular heterogeneity and gene expression dynamics, enabling the identification of
key, cell type-specific molecular players and aberrant developmental trajectories in RD, as recently
demonstrated for inborn disorders of haematopoiesis or immune system development. T8.4 have
established RNA-seq analysis pipelines for RD diagnostics and successfully used it in the project
Solve-RD, that can be a solid foundation for further development. However, more work is needed to
truly integrate DNA analysis with both bulk- and scRNA-seq, monitor and improve the time to
diagnosis, and increase the robustness and the between-lab comparability of results. So far, aberrant
expression and splicing are called from the RNA-seq samples, and the genetic variants are
reinvestigated a posteriori. Here, T8.4. will develop integrative methods that jointly process DNA
variants and RNA-seq data to increase analysis speed and reliability. Additional integrations of
scRNA-seq data will directly provide insight into the disease biology and further improve the
identification of disease-causing variants by identifying specific cell types and cellular and
developmental processes affected by genetic lesions, with relevance to unsolved RD patients. Tools
predicting variants affecting splicing (e.g., SpliceAI, AbSplice) will be integrated along with aberrant
splicing callers. The same will be considered for aberrant expression (e.g. using Enformer). Moreover,
T8.4. will develop methods leveraging variant phasing obtained from long-read sequencing and mono-
allelic expression (of rare and common variants) to establish cis-regulatory impacts or rare variants.
Also, coherent interpretation guidelines will be developed and regularly revised in coordination with
data interpreters. Interfaces will be developed to improve the speed, quality, and consistency of the
decisions according to these guidelines (e.g., via structured web reports, controlled vocabulary,
decision tracing). As successfully implemented in Solve-RD, T8.4. will offer expert call-in hour as
well as regular jamboree events (so-called “Solvathon”) in which training and actual data analysis are
done in groups. T8.4. will record diagnostic rate statistics by aberrant transcriptome event types
(splicing, mono-allelic expression, expression levels) as well as the dates of i) sample collection, ii)
sequencing, iii) bioinformatics pipeline completion, iv) bulk-/scRNA-seq results interpretation, and v)
diagnostics to identify bottlenecks and prioritize process improvements for shortening time to
diagnosis. All code, training material, and guidelines will be made publicly available.
In Year 1, WP8 contributors will deploy state-of-the-art RNA-seq pipeline in pilot compute-centres
(e.g., DROP, Yepez et al, Nature protocol, 2021). This will allow (re-)analysis of available matched
DNA-RNA datasets of RD cases, via WP6&7. Also, the format for sharing the necessary sample
metadata (sample annotations) will be agreed and designed.
T8.5. Multi-omics data integration to shorten time to diagnosis in RD (starts M13) TL: TUM,
AMU; Contributors: CCRI GmbH, OPBG, REGIONH, SRUMC, CNAG, UT. T8.5. aligns with GO:1;
SO:1,2,4; OO:1-4.
RNA-seq based diagnosis as in T8.4 focuses on pinpointing so-called cis-effects, i.e., the effects of the
genetic variants on transcription, splicing, or degradation of the very gene the variants are located in.
However, the functional impacts of variants with strong phenotypic consequences do not stop at the
immediate gene it belongs to. The development of a disease impacts many omics scales, from the
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expression levels of further genes to epigenetic modifications, protein, and metabolite abundance,
among other. Partners of this project collect such omics data on patient samples alongside patient
phenotypes using controlled vocabularies (HPO). Moreover, complementary to patient-specific data,
two decades of functional genomics research have produced a wealth of knowledge and experimental
data in model systems about gene function and interactions that can and shall be integrated to accelerate
time-to-diagnosis. The goal of this task is to develop, assess, and apply new modelling techniques
integrating multiscale omics data layers and patient-related information to better pinpoint genetic
causes of RD phenotypes. To this end, AI techniques specifically dedicated to heterogeneous data
integration, such as joint dimensionality reduction and graph embedding techniques (e.g.,
MultiVERSE, momix), which offer the needed scalability and mathematical expressivity will be
employed. A strong focus will be set on exploiting epigenomics data whereby so-called epi-signatures
from existing epi-array data will be first investigated transitioning toward using long-read genomic
data that will be produced over the course of the project and which also reveal DNA methylation
(T8.2). In Year 1, the WP leaders will perform the first investigation of multi-omics application of
RNA-seq and phenotype of existing samples. This will include developing the first version of an
algorithm integrating epigenomics signatures with phenotype.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 9 Start Date or Starting Event M1: September 2024
Number
Set of Activities Outcome Research Workstream - Real World Data
Title
Short name of UKHD SRUMC VHIR APHP (24) Erasmus UPM KUM
participant & (13) (11) (15) MC (53) (18) (136.1)
(No)
Person Months 50 12 9 18 5 4 5
Short name of UT (8) LUMC Sciensano INSERM C-Path UKLFR DDF (51)
participant & (16) (97) _U1112 (14) (115)
(No) (UNISTRA)
(1)
Person Months 9 9 10 2 24 8 8
Start month M1 End month M12
State of the art behind this WP
In RD research, data collected under real-world conditions are critically important to inform disease
demographics, identify the disease-specific needs for innovative therapies, explore the patterns and
determinants of disease evolution under the current standard of care, model the effects of interventions
on outcomes, provide reference data for clinical trial programmes, and identify patients for clinical
trials. EMA recently acknowledged the need to complement clinical trial information with RWD,
provided a guideline for regulatory-quality data collection and set up the Data Analysis and Real-
World Interrogation Network (Darwin EU). The advent of the European Reference Networks (ERN)
and the formation of ERN-wide registries, accompanied by the emergence of national and patient-
driven RD registries, have created unprecedented potential to facilitate therapeutic innovation at
multiple levels. However, the collection and research utilization of RWD still faces significant
obstacles all along the value chain, from primary data capture to cohort integration, efficient data
analysis and clinical trial-ready data provision. Numerous technical, legal-regulatory, and
methodological issues need to be solved to overcome these challenges. WP9 will utilize the unique
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facilities and support expertise available within ERDERA to create, integrate and process real-world
RD cohort data towards clinical trial readiness.
Methodology
This WP will utilize the unique facilities and support expertise available in the ERDERA to create and
process real-world RD cohort data towards clinical trial readiness. Several case / proof-of-concept
studies, selected according to thematic complementarity and feasibility, including the involved
partners’ expertise, data readiness and relevance for therapeutics development, will be performed.
They will paradigmatically highlight the challenges of RDs outcome research and develop
generalizable solutions with methodological support from the service infrastructures provided to the
CRN. Each case study will cover one or several tasks along the research and innovation value chain.
Both structured and unstructured Electronic Health Records (EHR) data captured across different IT
systems and European languages will be processed with the help of Natural Language Processing
experts for incorporation into registries and other outcome research project databases. In coordination
with Data Services Hub specialists, innovative strategies will be formulated for population-based
outcome research. These strategies will harness secondary health care and social security data
integrated with registries, with an emphasis on crafting guidelines to produce FAIR-compliant
population datasets. The focus is on creating a universally applicable, interoperable dataset anchored
on linked European Reference Network (ERN) registry and social security data. By liaising with
regulatory institutions, it is anticipated that this dataset will gain wider acceptance.
The advantages of merging existing RD patient cohort data will be highlighted in several case studies,
leveraging also on the Data Services Hub expertise, with the objective to craft robust reference groups,
poised to serve as benchmarks for upcoming clinical trials.
Procedures for academia-driven patient registries and natural history studies will be established during
the sequential stages of engagement with regulatory authorities. The aim is to secure EMA
qualification for regulatory-grade natural history registry data for potential utilization as external
comparator arms in non-randomized clinical trials in RDs. Additionally, these procedures are designed
to assist in post-authorisation safety surveillance (PASS) and efficacy (PAES) studies.
Lastly, existing model-building technology will be utilized, and new methodology will be developed
to demonstrate the creation of Drug Development Tools (DDTs). These tools aim to enhance the
comprehension of RD progression patterns and facilitate quicker, more certain, and cost-effective
predictions regarding the effectiveness and safety of new products. The C-Path Rare Disease Cures
Accelerator-Data and Analytics Platform (RDCA-DAP®) will be leveraged as a central, standardized
infrastructure to support and accelerate RD characterization. This will be aligned with DDT
development projects scheduled in parallel for future IHI project calls, ensuring thematic coherence.
Expertise in operational and regulatory aspects will be sourced from WP14 & WP18.
Objectives
The main objective of the WP is to augment the trial readiness of RWD available to the CRN
partners.
The WP will serve the following specific objectives:
• To lead the way to efficient retrieval of primary healthcare data for RD outcome research;
• To demonstrate successful utilization of population-based data for RD outcome research;
• To generate powerful reference patient cohorts by integration of data sources;
• To collect and make available regulatory-grade natural history reference data;
• To demonstrate how to model and explore predictors and effectors of disease progression in
RD patients;
• To develop a platform for clinical trial simulation of RDs.
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The objectives of the WP 9 for the Year 1 are:
• To make multiple RWD data sets available for data integration;
• To optimise the data quality of available data sets;
• To establish the legal and formal prerequisites for extraction of primary healthcare data.
Description of Programmed Activities
T9.1. Use of primary healthcare data for RD outcome research (M1-M12) TL: SRUMC;
Contributors: VHIR, APHP, Erasmus MC, UPM, LMU, KUM. T9.1. aligns with GO:2,3; SO:2,5;
OO:1,2.
In this task, structured and unstructured EHR data will be extracted and prepared for re-use in registries
or other databases in outcome research projects. In close collaboration with T14.2 partners, Natural
Language Processing (NLP) will be applied to unstructured data. This task will benefit from ongoing
activities of the beneficiaries, and existing coordination activities by the ERNs. The following disease
groups will be studied: urogenital anomalies, neuromuscular disorders, craniofacial anomalies,
developmental and epileptic encephalopathies, rare anaemia disorders, and mitochondrial disorders.
In Year 1, T9.1. will create an inventory of the current routines (automated or manual) for data
extraction from EHRs with the participating beneficiaries, the data use conditions given the consent of
the patients, GDPR and the applicable national laws, the available tooling (including NLP and
pseudonymization tools), and an assessment of the FAIRness of the available software tools. If
required, T9.1. will start the procedures to obtain ethical approval from the institutional review boards
and perform a data protection impact assessment.
T9.2. Use of population-based data for RD outcome research (M -12) TL: APHP; Contributor:
Sciensano, UKHD. T9.2. aligns with GO:3; SO:2; OO:2.
In this task innovative approaches to empower population-based outcome research, based on secondary
use of health care or social security data linked to registries, will be developed in three case studies in
collaboration with data service hub experts to derive generic guidelines to build FAIR population-
based data.
In ST19.2.1., a use case addressing the neurodevelopmental disorder Dravet syndrome, the French
National Rare Disease Registry (BNDMR) and French social security data and the National System of
Health Data (SNDS), as well as a disease specific national registry in Italy (RESIDRAS) will be
accessed to study in two countrywide samples the impact of available drug therapies on life expectancy
and healthcare costs. Both cohorts will be shared with the emerging European registry of ERN
EpiCARE. In Year 1, ST19.2.1. will select relevant variables from RESIDRAS registry to assess the
impact of drugs on life expectancy and healthcare costs. ST19.2.1. will then request access for
equivalent variables to regulatory bodies for data on patients having Dravet syndrome in the National
Health Data System linked with data from the French National Rare Diseases Registry.
In ST9.2.2., national health insurance data of patients with Hirschsprung disease will be linked with
outcome data (inc. PROMs) collected nationwide in Belgium and combined with equivalent national
healthcare data collected by BNDMR and SNDS in France for a comprehensive analysis of the impact
of disease phenotype and care pathways on health outcomes. The data collected in both countries will
be shared with the European registry of ERN ERNICA. The experience generated in both STs will be
summarized and made available to the ERNs and the RD community at large. In Year 1, ST9.2.2. will
build the registry for Hirschsprung disease and decide on the variables to collect considering the ERN
ERNICA registry. In addition, a collaboration with IMA/AIM (assembly of BE mutual insurance
companies) will be set up to investigate which data could be obtained from this organization. Finally,
ST9.2.2. will draft a questionnaire for outcome measures and PROM/PREMs in collaboration with
different stakeholders such as patient organizations, HCPs, and other relevant stakeholders. Legal
documents for the set-up of the registry, for receiving data from IMA/AIM and for the collection of
outcome data/PROM/PREM directly from patients will be prepared and submitted for approval. We
will also request access for equivalent variables to regulatory bodies for data on patients with
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Hirschsprung disease in the National Health Data System linked with data from the French National
Rare Diseases Registry. In conclusion, in Year 1, the focus will be on investigating how we can collect
data (software, data storage, FAIR characteristics, etc.) and how this data can be linked in one common
database (harmonization of pseudonymization, storage of data from different sources, etc.).
ST9.2.3. will combine ERDERA expertise and ERN registry data to develop a pathway for evaluation
of the long-term benefits and harms of population-based newborn screening (NBS). A generic NBS
module with controlled vocabularies and ontologies will be developed in collaboration with data
modelling experts in WP13 and 14, enabling AI/ML data readiness. The module will be adapted for
inherited metabolic diseases and implemented in MetabERN’s U-IMD registry, which contains
longitudinal RWD from patients diagnosed either pre-symptomatically by NBS or after manifestation
of symptoms. This will enable the evaluation of NBS programmes across various screened diseases
and EU countries, which will be demonstrated for three paradigmatic disorders. In Year 1, based on
our previous experience on longitudinal observational studies on NBS cohorts in Germany and in
interaction with the Screen4Rare/ERN multistakeholder NBS Platform, MetabERN and other
stakeholders, we will develop a generic NBS module with controlled vocabularies, ontologies (e.g. EU
CDE with ORPHACodes, OMIM codes, HGVS and HPO, as well as WHO ATC, HMDB, and LOINC)
and PROMs for diseases that can be screened. In addition, the module will also include specific NBS-
related parameters that are not commonly found in RD registries. This includes information about
diagnostic quality, diagnostic process quality, analytical quality, and confirmatory diagnostics. To
avoid data fragmentation and duplication, it is our strategy to build the new NBS model in a way that
enables integration into existing ERN (and other interoperable RD) registries. To test this procedure,
we will specifically adapt the new NBS module for inherited metabolic diseases and will include it in
MetabERN’s web-based U-IMD registry. Ethics and data sharing approvals will be put in place.
T9.3. Integration of patient cohorts for natural history/standard-of-care reference studies (M1-
M12) TL: UKHD; Contributors: APHP, UT, LUMC, SRUMC. T9.3. aligns with GO:1,3; SO:2;
OO:2,3.
This task will demonstrate the added value of integrating existing RD patient cohorts using the services
of the ERDERA data hub to create powerful, high-quality reference cohorts for future clinical trials.
Four case studies will be performed in important disease areas where clinical trials may be initiated in
the lifetime of the ERDERA:
• Three existing regional registries from Italy, Germany and France will be joined with the
ILIAD registry of ERN ITHACA and a national French cohort to create a single large natural-
history cohort of “RASopathies”. The ILIAD registry, built within the ITHACA network by
the bioinformatic department of partner MCUG, has been elaborated on a mixed federated
model and its beta version is technically finalized with the core EU dataset and
genetic/genomic dataset. The final structure of its extension to the constitutional RASopathies
sub-registry will be frozen in fall 2023. It includes longitudinal data and treatment information.
Legal issues that currently delay access to the core registry are being worked out to meet all
GDRP requirements. In Year 1, the main objective will be to open access of ILIAD to the
ITHACA network and to initiate the transfer of the content of the existing national registries
to the ILIAD registry, which will require data dictionaries mapping and transposition, data
mining and data curation. In parallel, existing informed consent information will be reviewed,
and when necessary, consent for pseudonymized data integration in the EU database will be
sought by contacting the families. Strategies to update individual datasets with information not
mapped in the earlier national databases will be elaborated.
• The international PodoNet Registry for congenital and steroid resistant nephrotic syndrome
will be integrated with the CNS/SRNS cohort enrolled in the ERKReg Registry of ERN
ERKNet and additional local registries. Extracts of the merged dataset, which will comprise
sizeable cohorts of all hereditary glomerular disorders, will be made available to form
reference populations for first-in-human gene therapy studies in monogenic podocytopathies.
In Year 1, existing informed consent information will be reviewed, and data dictionaries will
be mapped for all registries. Data sharing agreements will be arranged as required. To optimize
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data quality, data capture will be extended for missing variables relevant to the merged natural
history dataset and outdated datasets will be updated.
• Rare endocrine and bone disease cohorts followed in the EuRRECa/EuRR-Bone registries of
ERNs ENDO and BOND will be pooled with several ongoing institutional/national data
collections to generate reference outcome data for surgical interventions, e.g., in pituitary
adenoma or osteogenesis imperfecta. These reference outcome data can serve as benchmarks
for future clinical guidelines as well as intervention studies. In Year 1, the individual cohorts
will be identified, and ethics and data sharing approvals will be set up. Technical requirements
to harmonize and facilitate the different data collections will be put in place and first
benchmark analyses can be performed.
• The international TreatHSP Registry for Hereditary Spastic Paraplegias will be integrated with
the PROSPAX Registry for spastic ataxias and the ARCA Registry for autosomal recessive
cerebellar ataxia, thus allowing to establish a novel unique source of cross-aetiology spastic
ataxia (SPAX) diseases now genuinely combining three large international longitudinal
registries. In addition, several other data types (imaging parameters, digital mobility measures
and molecular biomarkers, genetic markers) will be integrated. This will facilitate innovative
progression modelling (T9.5.) and targeted molecular n-of-1 and N-of-few trials (WP12) in
these diseases. In Year 1, we will establish a mapping table based on the data dictionaries of
each of the registries. Available research datasets containing additional outcomes (e.g.,
imaging parameters, digital mobility measures etc.) will be identified and participant
identifiers will be mapped across datasets to allow merging of datasets at patient-level. The
registries will be expanded to capture information on treatment conditions to allow inclusion
of trial dataset into the existing natural history datasets.
T9.4. Development of a blueprint and inventory of regulatory-grade natural history cohort data
(M1-M12) TL: LMU, KUM; Contributors: UKHD, INSERM_U1112, C-PATH. T9.4. aligns with
GO:2; SO:2; OO:2.
This task will establish the procedures for academic-driven patient registries and natural history studies
in the early stages of engaging with regulatory authorities to achieve EMA qualification for regulatory-
grade natural history that may serve as an external comparator arm in non-randomized clinical trials
as well as for post-authorisation safety surveillance (PASS) and efficacy (PAES) studies. For such
EMA qualification procedures and key milestones, academic-driven patient registries and natural
history studies must fulfil numerous requirements (regarding coverage, core dataset, governance,
quality assurance approaches, completeness of core variables, and others) and must undergo extensive
and iterative discussions with EMA`s Committee for Medicinal Products for Human Use (CHMP) and
its Scientific Advice Working Party (SAWP). In T9.4 we plan to develop the international
mitochondrial registry and cohort study, the international hereditary spastic paraparesis registry and
cohort study, the CompCure C3 glomerulopathy registry and cohort study, and the inherited retinal
dystrophies registry and cohort study (www.REDgistry.eu) as blueprints.
In Year 1, we will set up an inventory of academic-driven patient registries and natural history studies
which have already achieved or are currently applying for EMA regulatory-grade qualification. The
respective (external) project leaders will be approached to collect information on their hitherto existing
experiences. In parallel, we will map for the four blueprint projects to what extent they already fulfil
the EMA requirements (regarding coverage, core dataset, governance, quality assurance approaches,
completeness of core variables, and others), and – employing discussions with EMA`s CHMP and
SAWP - where amendments and rectifications are necessary.
T9.5. Disease progression modelling and prognostic biomarker research (M13-M60) TL: UT;
Contributors: VHIR, UPM, UKLFR, UKHD. T9.5. aligns with GO:2,3; SO:1,2; OO:1.
This task will develop and apply innovative RD progression methodology that will permit to predict
individual disease trajectories. Paradigmatic disease groups will be studied with partially
complementary approaches in three sub-tasks.
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ST9.5.1. is a cross-aetiology use case focusing on spastic ataxia diseases (SPAX), a genotypically and
molecularly heterogeneous group of >300 ultrarare diseases, which share as a common denominator
progressive damage of the spinocerebellar and pyramidal tracts, as comprehensively aggregated in
T9.3. This ST aims to develop and validate an innovative statistical toolbox for robust individual and
n-of-few disease course prediction in this disease group - including quantification of uncertainty and
simulation of treatment-induced deviations - based on clinical and prognostic biomarker profiles
(molecular biomarkers, digital-motor datasets, imaging biomarkers, genetic stratifiers), thus
allowing multimodal outcome progression modelling and use for trial-readiness in ultra-rare/N-of-few
diseases. The results will thus also directly inform n-of-few trials (WP12). In Year 1, we will first set
up a comprehensive development plan for pertinent statistical models specifically apt to ultrarare
diseases and the multisystemic nature of SPAX diseases. This development plan will be designed
upfront in close collaboration and iterative meetings with the progression modelling methods experts
of WP19. First methods for n-of-1/n-of-few progressions modelling will be started to be developed,
and then piloted and optimized for two exemplary SPAX diseases.
ST9.5.2. will address sickle cell disease (SCD), aiming to develop individual risk models to improve
disease characterization and health status monitoring, personalize therapeutic approaches and
ultimately optimize health outcomes. In Year 1, we will develop the study protocol including the
collection of end-users (i.e. clinicians and researchers) clinical and technical requirements. This will
be done in collaboration with T10.2 to integrate clinical and research data with other type of data
collected in WP10 such as PROMs and socio-economic data. Technical requirements will be discussed
with WP13 for alignment with the Data Service Hub under T13.1. We will also identify data sets
available from ERN-EuroBloodNet members based on previous research projects. In addition to the
longitudinal dataset of the rare anaemia ERN registry (RADeep) with more than 600 variables covering
clinical manifestations, organ damage, treatments, and laboratory data mapped in OMOP, multimodal
information including metabolomic (>1900 metabolites), genomic (SNP microarrays) and radiomic
data (>500 cerebral MRIs) is available for analysis.
ST9.5.3 will explore spinal muscular atrophy, using the SMArtCARE registry with longitudinal data
from >2000 patients treated with one of the three drugs approved for this disorder. This high-quality
longitudinal dataset, which is part of the EURO-NMD registry hub and currently used for regulatory
and HTA purposes, will be used to model SMA disease trajectories and to test the reproducibility of
clinical trial results in a real-world setting. In Year 1, we will identify relevant data elements including
genetic data and modifiers, medical history and assessments, and physiotherapeutic tests that will be
used to model disease trajectories. Identification of appropriate data elements will be performed in
cooperation with experts for advanced statistical modelling (WP19). These data sets will be
standardized with reference to international clinical coding systems (e.g. ICD10, ATC). In addition,
we will explore the availability of clinical trial data from scientific publications and through direct
contact with trial sponsors and align the data with our data elements.
T9.6. Development of a model-based clinical trial simulation platform for RDs (M7-M12) TL: C-
PATH; Contributors: DDF, UKHD. T9.6. aligns with GO:2; SO:2; OO:1,2.
In this task we will use existing and create new model-building technology to demonstrate the creation
of Drug Development Tools (DDTs) that will improve the understanding of RD progression patterns
and help predicting the effectiveness and safety of new products faster, with more certainty, and at
lower costs. Data from natural history / standard-of-care studies as well as previous clinical trials will
be used to develop further prediction models that allow to simulate the effect of therapeutic
interventions on clinical endpoints and trial sample size requirements using both conventional and
small-population trial designs. Data modelling will be performed with the help of the Data Services
Hub (T14.3), utilizing the C-Path Rare Disease Cures Accelerator-Data and Analytics Platform
(RDCA-DAP®). Two therapeutic areas have been selected for the development of DDTs based on
their advanced stage of regulatory milestone achievement and initial modelling experience on the
RDCA-DAP platform: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Duchenne
Muscular Dystrophy (DMD).
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In Year 1, the legal framework for data sharing with the RDCA-DAP platform will be established.
The data re-use conditions defined in the Informed Consents will be reviewed and DCA agreements
will be negotiated with the cohort holders. Next, European ADPKD cohorts (including an industry-led
RCT dataset of 433 patients, placebo and Everolimus interventional arm) will be ingested, mapped,
and curated into the RDCA-DAP platform, and the development of a disease model looking at the
relationship between total kidney volume growth and eGFR decline will be initiated. The ERKNet
registry (ERKReg) will be leveraged, with regards to the cohort of >3,000 ADPKD patients. Additional
information regarding received medications, trial participations, kidney volume measurements and
retrospective eGFR information from up to 5 years prior to registry enrolment will be obtained from
the investigators to enhance the utility of the cohort for the modelling project. In addition, other
candidate rare kidney disease datasets for potential disease progression modelling available in
ERKReg will be examined.
In the Duchenne subproject, C-Path and DDF will work on improving the semantic interoperability
and expanding downstream analytic power of DMD data through curation and utilization of a common
data model and ontologies. DDF will be involved in the requirement specifications for data pre-
processing and ML models. Data variables from the DMD database will be mapped from highest
priority domains including demographics and functional tests. Requests for new ontology terms will
be applied where needed. Next, the remaining variables will be mapped, and ontology terms requested.
These steps will be preparatory and necessary to ingest DMD data into the C-Path knowledge graph.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 10 Start Date or Starting M1: September 2024
Number Event
Set of Activities Outcome Research Workstream - Clinical Outcome Assessment
Title
Short name of VHIR UKHD APHP Erasmus UT ((8) UPM KUM
participant & (15) (13) (24) MC (53) (18) (136.1)
(No)
Person Months 21 21 9 2 8 9 2
Start month M1 End month M12
State of the art behind this WP
A clinical outcome assessment (COA) measures how patients feel, function or survive. COA can be
used to assess disease progression, severity and determine whether a drug has been proven to provide
a treatment benefit. According to the IRDiRC, Report on Patient-Centred Outcome Measures in the
Field of Rare Diseases on February 2016, there are five types of COAs: Patient Reported Outcome
(PRO), Observer Reported Outcomes (ObsRO), Clinician-reported outcomes (ClinRO), Performance
Outcomes (PerfO), and Biomarkers. However, clinical studies both interventional and non-
interventional, involving several audiences, do not always and systematically measure COAs self-
reported by patients and relatives or COAs that patients consider important or relevant. Patient-
centred Outcome Measures (PCOMs) aim to place patients, their families, and carers at the heart of
decisions concerning the most valuable criteria in health assessment, rather than leaving assessments
solely to clinicians. The incorporation of PCOMs, together with Patient Reported Experience
Measures (PREMs) and other types of patient self-reported data as socioeconomic data can have a
profound impact on individual risk scores for disease severity and on the relevance, effectiveness,
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and safety of drug development. This widely acknowledged concept is supported by various
stakeholders, including regulators, industry professionals, HTA bodies, patient organizations, and
academia. However, there is an urgent need for a unified approach to gather and incorporate PCOMs,
specifically tailored to address the unique challenges prevalent in the field of RDs. Several critical
issues require immediate attention: (i) The absence of trial endpoints and designs that are acceptable
to regulatory authorities and are grounded in concepts and health impacts relevant to patients. (ii)
The development of methodologies that are robust, efficient, and compliant with legal, technological,
and regulatory requirements, while capitalizing on the latest advancements in health technologies, to
collect patient input effectively. (iii) The creation of a comprehensive quantitative assessment of the
socio- economic impact of RDs, which would provide policy makers with vital insights to make well-
informed decisions and allocate resources appropriately.
Substantial advancements have been achieved by numerous academic consortia and public-private
partnerships in various critical areas of patient-centric approaches. These notable milestones include
the establishment of frameworks for engaging patients, guidelines for systematically incorporating
structured patient input into decision-making processes, and the creation of a repository of PCOMs/
PROMS in RDs. Now, a collaborative effort among all relevant stakeholders aims to propel these
achievements further and adapt them specifically for RDs.
Methodology
In this WP we will address key challenges of patient-centred outcome research in RDs. Promotion of
implementation of PCOMs in RDs contexts, i.e. clinical trials, clinical research and patient registries
is hampered by the insufficient number of validated tools developed for RDs. This is demonstrated
in the analysis performed by the ERICA Consortium where only less than 4% of RDs were found to
be specifically addressed by one or several PROMs. To partially standardize PROM development
and leverage synergies across RDs, ERICA WP3 leaders, ORPHANET and ICS-VHIR, in
collaboration with the MAPI Research Trust have generated a PROMs repository of validated tools
in RDs that are currently being linked to functions and disabilities in the International Classification
of Functioning, Disability and Health (ICF). This preliminary work will allow us to directly match
the ICF-coded core impact sets we will develop in T10.1 for each use case to suitable PROM items,
thereby greatly facilitating the process of PROM scale generation and COA validation. Collection
and integration of PCOMs, mainly PROMs data in T10. to improve patients’ care pathways in RDs,
improve monitoring of patients’ health status, optimize clinical therapy guidance and ultimately
improved health outcomes requires data standardization and efficient, regulatory-grade data capture.
To leverage the full power of these PROMs datasets, they will be integrated with other COAs, mainly
candidates for biomarkers via interaction with WP9, paving the way for personalised medicine in
RDs. Overall process from regulatory and ethical clearance management, adaptation of existing
mHealth or development of new ones, data standardization in CDM (OMOP) and integration with
clinical data and OMICS data for further analysis through ML approaches will be designed and
validated through 4 use cases involving the collection of patient-generated data using mobile health
solutions and devices.
Objectives
The main aim of this WP is to promote the development and integration of PCOMs (PROMs and
other types of COAs) together with PREMs and socioeconomic information for monitoring clinical
research (clinical trials, clinical studies, patient registries, natural history studies) and assess its
efficacy and safety for patients together with the evaluation of disease progression (symptoms,
biomarkers etc). Towards this aim we will achieve the following specific objectives:
• To develop a platform for the development and validation of regulatory-grade PCOMs for
RD, which are suitable for establishing truly patient-centred clinical trial endpoints, based on
core disease/group of diseases impact sets on the patient as well as societal level.
• To develop and implement digital tools allowing efficient and broad collection of PCOMs
patient self-reported data (PROMs/PREMs, socio-economic information) in RD patient
cohorts and integration with patient databases and research data.
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• To systematically explore the societal impact and personal burden of RDs across Europe.
During Year 1 of ERDERA, WP10 specific objectives are:
• To establish the overall regulatory strategy for development and validation of PCOMs in
RDs in T10.1, as well as for collection of data in T10.2
• To start defining the ICF core impact sets for the target diseases in T10.1
• To develop the study protocols for targeted use cases in T10.2 including selection of
PROMs, and end-user requirements both clinical and technological.
• To identify available mHealth and devices and their readiness for adoption in T10.2
Description of Programmed Activities
T10.1. Platform for regulatory-grade patient-centred COA development and validation (M1-
M12)
TL: UKHD; Contributors: VHIR, LMU, KUM, UT, APHP, Erasmus MC, MRT, EURORDIS. T10.1.
aligns with GO:2,3; SO:1-4; OO:1,4,5.
In a multistakeholder patient-centred process, we will develop patient-reported outcome assessments
and assess patient-relevance of top-ranked COA candidates for five demonstrator RDs (HSP/ataxia
[ERN-RND], RASopathies [ERN-ITHACA], mitochondrial disease [5 ERNs], rare anaemia
disorders [ERN-EuroBloodNet], and craniofacial anomalies [ERN CRANIO]. We will i) establish
ICF-coded core impact sets for each of the RDs, ii) match ICF-coded functional impacts with suitable
existing PROMs (Coll ERICA), and iii) validate PROMs in at least 3 European languages,
establishing sensitivity to change, meaningful within-patient change and cross-language equivalence.
Additionally, anchoring studies for top-ranked COA candidates in the four demonstrator diseases
will be performed to establish their patient-relevance. In Year 1, T10.1. will develop an overall
regulatory strategy and initiate establishing ICF core impact sets for each of our paradigmatic target
diseases:
• In close collaboration with WP18 we will develop an overall strategy for development and
validation of regulatory-grade PCOMs for each of the five paradigmatic demonstrator RDs
that considers the unique challenges, requirements, and current status for each of the
diseases.
• Establish a strategy to collect patient input on patient-relevant health aspects for each of the
target diseases. Depending on the specific disease this process may include (semi-)structured
interviews, focus groups and/or surveys and will ensure that we capture representative input
not only in terms of disease stages or expression but also geographic, cultural, and
socioeconomic background. Strategy development will be co-led by the respective disease-
specific patient advocacy organisation (PAO) partners.
• In a PAO-co-led process we will design the content for respective input method, considering
language barriers (see 2.: interviews, focus groups, surveys)), pilot test the methodology in
small groups of patients and adapt as necessary.
• Lead a consensus process for each disease group to select a minimum of two COAs per
disease group for further validation and anchoring studies to patient-relevant concepts of
interest. CAOs will be selected based on their validation status and their demonstrated ability
to detect longitudinal or treatment-induced change.
T10.2. Development and Implementation of Clinical Outcome Assessment Tools (M1-M12) TL:
VHIR; Contributors: UT, APHP, UKHD, UPM, EURORDIS. T10.2. aligns with GO:2,3; SO:1-4;
OO:1,2,5.
In this task methodologies to develop and implement digital tools e.g. mobile health solutions
(mHealth) to collect PCOMs (i.e. PROMs/ObsROs/PerfOs, socio-economic, lifestyle data) linked to
clinical data in the EHR and patient registries and research data will be developed. Methodologies
will be validated through four case studies collecting PCOMs using mHealth solutions and devices.
They case studies have been selected representing a wide range of RDs; PROMs/QoL data collected
through a mHealth (1) ERN EpiCARE (APHP) linked to the EURO-NMD registry and (2) ERKNet
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(UKHD) linked to the ERKReg registry; (3) PROMs, patient reported health forms, socio-economic
and nutritional information collected through a mHealth and integrated with clinical and research
data for ERN-EuroBloodNet linked to RADeep registry (Rare Anaemia Disorders European
Epidemiological platform) (ICS-VHIR). A (4) case study will combine real-life sensor-based
mobility performance capture with activity-triggered real-life patient-experience sampling (ERN-
RND/UT) and combine these datasets with the ARCA Registry (Autosomal Recessive Cerebellar
Ataxia registry). In Year 1, we will initiate most of the tasks foreseen in Phase I: Co-design and
development:
• Development of the study protocols for the 4 case studies including the collection of end-
users (i.e. patients and researchers) clinical and technical requirements. This will be done in
collaboration with WP9 to integrate PCOMs data with other type of data collected in WP9
such as clinical data in the EHR T9.1, natural history studies T9.3 and COAs for disease
progression T9.5. The study protocol will also include the selection of validated tools for
PROMs/ObsROs collections based on available instruments in the public repository created
in ERICA. Technical requirements will be discussed with WP13 for alignment with the Data
Services hub under T13.1. Steering of the Data Services Hub (DSH) and the RD-VP.
• Identification of available mHealth (e.g. NORA (stroke), KIWAME (hydratation)) and
devices and their readiness for adoption or implementation as well as need for development
of new mHealth solutions. A first workshop will be organized between clinical partners and
IT partners in WP14 to identify the technical requirements for integration of PCOMs
information with data in EHRs and registries as well as research data. Initial plan for data
readiness and FAIRification will be developed with the support of the DataHub in WP14,
T14.1. Services for making data findable, accessible, interoperable, reusable for automated
applications.
• Clarification of regulatory aspects: mHealth privacy and security protections, EU/national -
regulatory approval processes. Regulatory aspects related to mHealth solutions adopted or
newly developed in the use cases will be assessed in the context of the applicable EU and
national regulations for medical devices. An initial plan for regulatory clearance for mHealth-
derived data in clinical research will be developed with the support of WP18, T18.2
Regulatory support to clinical research.
T10.3. Unveiling the Hidden Burden: Estimating the Socioeconomic Impact of RDs for
Informed Decision Making and Resource Allocation (starts M13) TL: Sciensano; Contributors:
Erasmus MC, RDI, EURORDIS, APHP, WDO, CVBF, QUB-UK*. T10.3. aligns with GO:2,3;
SO:3,4; OO:1,4,5.
The main aim of this WP is to promote the development and integration of PCOMs (PROMs and
other COA types) together with PREMs and socioeconomic information for monitoring clinical
research (clinical trials, clinical studies, patient registries, natural history studies) and assess its
efficacy and safety for patients together with the evaluation of disease progression (symptoms,
biomarkers etc.).
Additional deliverables (additional to those included in part B of the proposal)
D10.1: Design of respective input method (structured interview, focus group, survey) completed
and pilot tested (M12).
D10.1: Top-ranked CAOs for further validation selected for each target disease (M12).
D10.1: Regulatory strategy for each target disease established (M12).
Set of Activities 11 Start Date or Starting M1: September 2024
Number Event
Set of Activities Innovative Therapies - ATMPs
Title
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Short name of UKHD (13) EURORDIS CVBF (50) FTELE (5) Pfizer* (161)
participant& (26)
(No)
Person Months 9 9 3 12
Start month M1 End month M12
*Associated partners providing in-kind contributions
State of the art behind this WP
One of the most critical limitations existing toward developing ATMPs based on gene therapy for RDs
is the absence of a clear and straightforward path to the clinic. This is not only due to the complexities
associated with the technologies involved but also the specificities associated with their use in RDs.
WP11 will create a strong network of clinicians and experts in ATMPs development with the aim of
simplifying the procedures for the selection of RDs with the highest potential for treatment and for the
identification of the technologies more adapted to be translated to the clinic for the defined disease.
Methodology
WP11 will streamline the development of Adeno-Associated Virus (AAV) and mRNA technologies
aiming to increase the speed and reduce the costs associated to the clinical translation with these
technologies. WP11 will instead focus on the creation of a collection of procedures and methods to
identify diseases ranked based on medical needs, match them with technologies suitable for clinical
translation and simplify the procedures to access clinical trials. The objective is also to provide proof-
of-concept of gene transfer with the chosen technology in multiple diseases with a common preclinical
strategy as defined by the main actors of gene therapy in Europe. This WP will coordinate efforts with
the accelerator hub and WP12 also working on the clinical translation of the ASO technology for RDs.
These continuous interactions between the three WPs, also ensured by the participation of key
members of this WP in the two others, will be key to identifying a common and efficient strategy to
perform clinical trials in RDs.
The work of this WP is divided temporally, with the first three years that will be dedicated to the
diseases prioritization and matching with the technologies identified and streamlined in the accelerator
hub. The last four years will be dedicated to the generation of the proof-of-concept studies and the
preparation of the clinical trial application for a start at the end of year seven of the project.
Objectives
This WP aims to demonstrate the applications of established innovative, scalable technology platforms
of ATMPs developed in the Acceleration hub for prioritized RDs. This WP will collaborate with the
two WPs that focus on diagnosis and natural history studies, which are essential for therapy
development. In Year 1, the objective will be to identify the most urgent and suitable disease groups
for ATMP therapies.
Description of Programmed Activities
T11.1. Identify and rank disease indications requiring ATMPs (M1-M12) TL: UKHD;
Contributors: EURORDIS, CVBF. T11.1. aligns with GO:2; SO:1,2,4,5.
This task will serve to identify, prioritize, and select in an unbiased manner RDs and conditions with
the greatest need and best suitability for the development of innovative ATMP therapies. To this end,
in Year 1, a scoping review and a multistakeholder survey involving clinicians and scientists from all
ERNs, patient organizations (including the WP1 PPIE core group), translational researchers, HTA
experts and social scientists will be performed across ERDERA. This task will take into consideration
the work already performed in this area in the context of the EU-funded project ReSTORE; the
RAREIMPACT initiative, the TRANSORM Alliance as well as by benchmarking current initiatives
such as the UK CATAPULT Cell and Gene Therapy.
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Both the scoping review and the multistakeholder survey will be completed by M12. The evaluation
and exploitation of the review and survey results will be performed in the first half of year 2. In a first
step, general criteria for ATMP treatment suitability will be pre-defined by ATMP experts to inform
the selection process (by M6). The main parameters and their relative weight in the decisional
algorithm will include the disease demographics, morbidity/disability, potential for therapeutic
efficacy based on mechanistic considerations, availability of established intervention endpoints,
availability of natural history studies, efficacy and safety of currently available therapies, availability
of European study cohorts based on registry information. From the collected information available and
analysed by M18, priority lists of suitable candidate conditions with the greatest anticipated potential
benefit from ATMP therapies will be derived for each ATMP class and the most promising candidates
will be chosen for demonstrator projects.
T11.2. Select and adapt the technical platforms with prioritised need (starts M12) TL: GNT;
Contributors: INSERM_ART-ARNm, Pfizer*. T11.2. aligns with GO:2; SO:1,4; OO:2.
T11.3. Design the proof-of-concept studies to evaluate the selected pipelines (starts M36) TL:
INSERM_ART-ARNm, INSERM_IT-GGB; Contributors: GNT, FHG. T11.3. aligns with GO:2;
SO:1,4; OO:2.
T11.4. Evaluate the selected platforms for CTs requirement and joint transnational call (starts
M48) Contributors: CVBF, UC, GNT, INSERM_ART-ARNm. T11.4. aligns with GO:2; SO:1,4;
OO:2,3.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 12 Start Date or Starting Event M1: September 2024
Number
Set of Activities Innovative Therapies - N-of-Few Approach
Title
Short name of LUMC (16) UT (8) UKHD (13) RCC*
participant & (162)
(No)
Person Months 6 12 12
Start month M1 End month M12
*Associated partner providing in-kind contribution
State of the art behind this WP
About 70% of RDs are of genetic origin. For these patients, gene and genetic therapies could have
therapeutic effects. However, many patients suffer from ultrarare diseases and for genetic therapies
mutation specific approaches are often required, which apply to very small group and sometimes even
individual cases. So, on the one hand, these individuals are very eligible candidates for genetic or gene
therapy treatment, but on the other hand due to the small number of cases, there is no commercial
interest to develop them. Notably, it has been shown possible to develop individualized antisense
oligonucleotides (ASOs) within an academic setting in the USA (1). Similar developments are starting
in Europe (2,3,4). However, due to the individualized nature of the treatment, the traditional drug
development pathways and processes do not apply and in Europe individualized treatment can be done
under a named patient setting, without the goal of marketing authorization. This offers more flexibility
than traditional drug development, but currently there is no consensus on processes and steps involved.
To ensure safe, standardized and timely development of individualized treatments a new platform has
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to be generated to. This will work towards the IRDiRC goals of having 1000 affordable therapies by
2027 and will address the current unmet medical need of patients with ultrarare diseases.7,8,9
Methodology
Various aspects of the platform will be elaborated in M36 utilizing the genuine expertise in N-of-1/N-
of-few ASO treatments of the leaders of this WP (Aartsma-Rus preclinically, Synofzik clinically),
making sure to align with WP13 (virtual platform) with regards to ontology and usability. It is
anticipated that the work done in WP7 and WP8 will identify additional patients with mutations eligible
for individualized ASO treatment. The individualized treatment platform will be developed by the core
partners in M1-M36, and rolled out to other partners via the hub and spoke model, where some aspects
will be coordinated by the core partners (LUMC, UT)(patient identification, ASO design and synthesis,
safety assessment in cells and animals and ethics), while other aspects will be implemented at the sites
treating patients with individualized therapies (selecting relevant outcomes, design the study/treatment
regimen, local regulatory aspects and challenges for local treatment implementation). Rolling out to
other partners will be initiated from M1, where a patient with ataxia telangiectasis has been identified
who carries the same mutation as a patient currently treated with an ASO in an individualized setting
in UT. For this work we will be able to draw on already existing first emergent cross-European
networking efforts by the two TLs, (LUMC, UT, both coordinators of 1 mutation 1 medicine, 1M1M)
both at the preclinical and clinical implementation level, including also already first contacts to
underrepresented countries (via ERN-RND and linking to WP24).
As there is currently no platform to facilitate individualized treatments, we expect that optimization of
the first ‘build’ of the platform is required. We will test the interoperability of the different aspects of
the platform and how each aspect functions with 4 use cases. The first 2 use cases are ASO specific
selected cases from UT (Ataxia Telangiectasia) and UKHD (POLR3A-related neurodegeneration) and
will be run in stage 1. These use cases will identify potential bottlenecks or suboptimal functioning of
aspects of the platform that need work. In stage 2, 2 additional use cases will be selected (treatment
modality and disease to be determined, ASO or ATMP). These use cases will be selected to specifically
assess bottlenecks identified in use case 1 and 2, are solved.
Individualized treatments check for eligibility based on mutation type, rather than disease. This is a
paradigm shift from normal drug development. To ensure identification of eligible mutations, this WP
critically relies on interaction with other parts of the ERDERA. Collaboration with CRN – Diagnostic
Research will allow us to first identify patients eligible for individualized ASO treatment and later will
benefit from the algorithm developed in this WP that will automatically flag patients potentially
treatable in the ERN registry.
To ensure equity and selection of the most eligible patients, we will establish a treatment board, which
is a multidisciplinary group of experts who will discuss eligibility of the patient for individualized
treatment based on mutation, disease and patient-specific aspects, which outcome measures to select.
The treatment board will have representation from patient groups, clinicians, researchers and ethicists.
The treatment board members will be recruited from relevant experts in the CRN and the Expertise
Services Hub (WP17, 18 and 19). Detecting treatment effects will rely on outcome measures and n-of-
1/n-of-few progression and treatment response modelling, and therefore facilitated by CRN – Outcome
Research and WP 19 Methodological Support, to fit the n-of-1/n-of-few setting, such as real-world
outcomes and progression modelling, CRN-Outcome Research; identification of a toolbox of disease-
specific and generic outcomes.
Patients will be treated in a named patient setting, but to facilitate drawing general conclusions, and
through the collaborative work with WP19, it will allow assessing the efficacy of the platform approach
across diseases and treatments. Which clinical treatment centres will be qualified first will depend on
the location of eligible patients. However, the centres will be selected from partners of the ERDERA.
Individualized treatment has unique regulatory and ethical challenges. However, our discussions will
benefit from ongoing efforts on these aspects in the ERDERA Expertise Services Hub) and the EAG.
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Treatment response will be captured in a specific registry, that has the flexibility to be individualized
for each patient. Outcome measures will be selected by the clinician and patient/family and natural
history captured before and after treatment. The registry will be built with support of WP13, WP14,
and WP 15.
Objectives
The objectives for the Year 1 are the following:
• Start working on all aspects of the platform.
• Consensus on patient identification criteria.
• Brainstorm on selecting outcome measures, trial design and treatment site criteria for N-of-1
treatments.
Description of Programmed Activities
The goal of WP12 is to establish an innovative, scalable platform for academic development and
implementation of mutation-specific antisense oligonucleotide (ASO) treatments for individuals with
nano-rare RD mutations. Along this pipeline we will create a combined preclinical/clinical/regulatory
framework for tailored N-of-1/N-of-few treatments; and implement, standardize, and optimize each of
its modules, processes and levels. The pipeline will be built through a multistakeholder collaboration
effort, where we will actively include underrepresented countries in generating guidelines and
processes. For this platform every aspect will have to be individualized, the ASO treatment, but also
the outcome measures will have to be selected to measure relevant benefit for each patient, consent
will have to be customized. Furthermore, patients will ideally be treated in the hospital where they
receive expert care. This means implementation of N-of-1 treatment locally in multiple hospitals.
T12.1. Academic platform development (M1-M12) TL: LUMC; Contributors: UKHD, UT, SRUMC,
UKLFR,WDO, RCC*. T12.1. aligns with GO:1; SO:1; OO:3,5.
To establish an innovative, scalable platform for academic development and implementation of
mutation-specific antisense oligonucleotide (ASO) treatments for individuals with nano-rare RD
mutations. Note that patients will be treated in a named patient, experimental treatment setting. As
such, regulatory advice for processes is foreseen, but the regulatory approval is not mandatory.
Furthermore, while each development is individualized, processes and steps are similar. To ensure
development in a standardized, safe, and timely fashion we will create a combined
preclinical/clinical/regulatory framework for tailored n-of-1/n-of-few treatments; and implement,
standardize, and optimize each of its modules, processes, and levels. The platform will cover the
following aspects:
• Identification of patients with mutations eligible for individualized ASO treatment (link to
diagnostic registries in ERNs) and establishing eligibility criteria based on mutation, disease
and patient and establish an independent treatment board to discuss eligibility) (link to ethics
T1.6)
• ASO design and synthesis (consensus on quality criteria for GMP-like production and
optimizing methods for smaller scale production required for individualized treatments, done
by experts in ASO synthesis, discussion with local regulatory bodies, link to WP18
Regulatory Support)
• Efficacy assessment (consensus on processes developed by LUMC, UKHD, SRUMC and
UT)
• Toxicity and safety assessment (consensus on process and reducing the need of animals by
LUMC and SRUMC, input from WP18)
• Identification of patient relevant outcomes in an N-of-few setting and run-in natural history
studies to establish the trajectory before treatment (during development of the individualized
therapy) vs after treatment (T12.2)
• Consensus on intervention strategy and assessment of treatment effect (benefit and side
effects) (T12.3)
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• A registry to capture individualized patient relevant efficacy and safety outcomes before and
after treatment (link to WP13, 14 and 17, coordinated by UKHD & UKLFR)
• Implementation of first in human treatment infrastructure in N-of-few setting (T12.4)
• Regulatory aspects (while we do not need regulatory approval, we value advise, link to
regulatory WP18 and Expertise Services Hub)
• Ethical framework (ethical aspects are involved in many steps and processes, link to T1.6)
Specific plan for Year 1 of T12.1 includes:
• Patient identification: when considering patients, eligibility should be assessed based on
objectives measures. These involve the mutation (eligibility), the diseases (progressive, likely
to respond to treatment) and the patient themselves (expected benefit, local treatment possible,
start and stop criteria, informed consent etc). To ensure that the criteria are discussed properly
a treatment board will be set up including multistakeholder representatives (geneticists,
clinicians, patient representatives, ethicists, regulators) and processes for standardized
assessment will be generated. Towards setting up the treatment board and establishing
eligibility criteria, a consensus meeting will be organized (M12) involving different
stakeholders from the network and including at least 25% of participants from
underrepresented countries.
• ASO design and synthesis: there are currently no processes for GMP grade production of
small scales, as needed in individualized treatment. Towards preparing for a consensus
meeting in Year 2, in Year 1 protocols will be compared and zoom meetings with
manufacturers and experts in quality assessment will be held.
• Efficacy assessment: to measure efficacy of the treatment outcome measures that measure
something that is relevant to patients and reflects an aspect that is expected to respond to
treatment are required. Given that treatment is individualized, these outcome measures need
to be individualized as well. To facilitate selection of responsive measures for which
protocols are available a toolkit of outcome measures will be prepared. In Year 1, in
preparation for a consensus meeting in Year 2, online meetings will be held in Year 1 to
compare protocols for initial alignment and a list of outcome measures to consider.
• Toxicity and safety assessment: currently each ASO has to be tested in in vivo toxicity
studies. Ideally these are replaced by in vitro studies to reduce the number of animals. In
Year 1, research will be initiated on in vitro models to assess toxicity with ASOs known to
be toxic in humans but safe in rat toxicity studies to elucidate which in vitro studies predict
in vivo toxicity.
• Individualized treatment effect capture registry: as this involves individualized treatment,
there will not be a control group, but rather data from before and after treatment. This will
require a registry that allows capturing this and that is adaptable to the N-of-1 treatment
aspects (different ASOs for different diseases rather than a compound or disease specific
registry): no activity in Year 1. This will require a registry that allows capturing this and
that is adaptable to the N-of-1 treatment aspects (different ASOs for different diseases rather
than a compound or disease specific registry). No activity is planned in Year 1.
• Regulatory: N-of-1 treatment with ASOs is given as an experimental treatment and as such
qualifies as patient care, rather than a clinical trial. There is no objective to file for marketing
authorization and regulatory approval is not the goal. Still regulatory advice is pursued and
exploratory zoom calls with regulatory experts in the network to discuss the peculiarities of
N-of-few.
• Ethics: the individualized treatment approach involves many ethical aspects. Rather than
discussing them in an ethics focused meeting, they will be part of consensus meetings
organized by the WP. For the meetings organized in Year 1 for this and following tasks,
pertinent issues will be discussed as scientific publications to share with the wider
community (anticipated in Year 2). For the meetings organized in Year 1 for this and
following tasks, pertinent issues will be discussed as scientific publications to share with the
wider community (anticipated in Year 2).
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T12.2. Identification of patient relevant-outcomes (n-of-1/few) and run in natural history study
(M1-M12) TL: UT; Contributors: UKHD, LUMC, FSJD-CERCA. T12.2. aligns with GO:2; SO:1;
OO:3,5.
Develop adapted processes for patient-relevant outcome selection (CRN – Outcome Research) to fit
the N-of-1/N-of-few setting; identification of a toolbox of disease-specific and generic outcomes
coordinated by the WP manager during consensus meetings that involve multiple stakeholders from
across Europe (with a focus on underrepresented countries), including patients; for each individualized
treatment, the outcome measure will be selected by the patient/family and the clinician from the toolkit
and then implemented in a natural history studies to determine individual sensitivity to change of
candidate outcomes and pre-treatment progression trajectories.
Plan for Year 1 for T12.2: Identification of patient relevant outcomes in an n-of-few setting and run-
in natural history studies (see aspect 3 of T12.1): plan and conduct a brainstorm meeting with experts
to select candidate outcome measures (M10) (jointly with T12.3). Plan for Year 1 for T12.2:
Identification of patient relevant outcomes in an N-of-few setting and run-in natural history studies
(see aspect 3 of T12.1): plan and conduct a brainstorm meeting with experts to select candidate
outcome measures (M10) (jointly with T12.3). Ethical issues will be discussed as well.
T12.3. Treatment/study design and analysis (M1-M12) TL: UT; Contributors: UKHD, UKLFR,
LUMC. T12.3. aligns with GO:2; SO:1; OO:3,5.
Individualized therapies are provided as experimental treatments, rather than tested in a clinical trial
setting. Still, ways to assess therapy effects are required for patient management. Here we will achieve
consensus on strategies to evaluate treatment efficacy on an N-of-1 level (e.g., implementation of
staged evaluation milestones: safety – target engagement – efficacy on surrogate parameters – clinical
efficacy). A consensus will be achieved via stakeholder meetings that include participants from across
Europe, with a focus on underrepresented countries.
Specific plan for Year 1 for T12.3. includes: Treatment/study design and analysis: the challenge with
individualized treatment is that rather than a control group, there will be trajectories before and after
treatment. This will require specific study design and statistics. Toward this, a brainstorm meeting with
experts to discuss study design and analysis will be planned in M10 (jointly with T12.2)
T12.4. Implementation of first in human treatment infrastructure (M1-12) TL: UKHD;
Contributors: UT, LUMC. T12.4. aligns with GO:2; SO:1; OO:3,5.
Development of criteria and a process for site qualification; establishment of a network of qualified
clinical sites in major European countries that can carry out N-of-1 treatments (i.e., not the same as
running a clinical trial). Based on the feedback and during consensus meetings the procedure will be
optimized further. The processes will be coordinated by the WP manager.
Specific plan for Year 1 for T12.4 includes: To avoid patient burden, the goal is that patients receive
individualized treatments in the centres where they receive expert care. There are requirements to allow
individualized treatment in the centres where patients receive expert care that have to be in place in all
centres, but there will also be country and centre specific requirements.
T12.5. Case studies (starts M13) TL: UT, UKHD; Contributor: LUMC. T12.5. aligns with GO:2;
SO:5; OO:1,3.
The power of the platform generated in T12.1 will be shown by 4 use cases, selected to represent
different challenging scenarios (e.g. N-of-1; N-of-few; childhood/adult onset; target tissue e.g.
brain/eye/liver) to pressure test the platform. We will start with 2 use cases using ASOs for ataxia
telangiectasia and POLR3A-related neurodegeneration in M13-36. In M50-M84, 2 other use cases will
be selected from within the network (e.g. Acceleration Hub). These use cases can be ASOs (using the
whole platform) but also ATMPs, where the ASO specific pieces of the platform will not be used.
Selection will be facilitated by the selection criteria set in the treatment board (T12.1), and we will
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collaborate with WP21 for eligible individualized ATMP candidate use cases. Note that for each use
case a contribution towards development costs will be provided.
No activities are planned for Year 1.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of 13 Start Date or Starting M1: September 2024
Activities Event
Number
Set of Rare Disease Virtual Platform (RD-VP) finding and accessing the data
Activities ecosystem
Title
Short name INSERM_ UTWENT LUMC UPM (18) UMCG AIT (36) BBMRI-
of Orphanet E (17) (16) (19) ERIC
participant (1) (132)
& (No)
Person 8.62 13.28 10.39 10.71 10.71 6.25 2.82
Months
Short GUF (66) ULEIC* AUMC SRUMC Pfizer* ROCHE*
name of (171) (20) (11) (160) (164)
participan
t & (No)
Person 3.73 1.43 6.14 5.2 0.33 0.33
Months
Start M1 End month M12
month
*Associated partners providing in-kind contribution
State of the art behind this WP
With over 6,000 RDs, most of them affecting less than one person in a million across the globe,
covering all areas in medicine, rarity constitutes the major bottleneck to conduct effective and efficient
research, and one of the reasons for that is the difficulty in identifying, collecting, harmonizing and
integrating the critical mass of data that is necessary to understand RD, improve their diagnosis, and
develop therapies and strategies to improve patients’ lives. Following the Rare 0 0 vision, the
majority of PLWRD will have their data integrated to a federated health and research data ecosystem.
The data challenge in fostering RD research is to get a diversity of types of data reusable in a timely
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manner. Tackling this diversity and heterogeneity needs a constant effort towards interoperability
amongst data sources and towards federation in an ecosystem that allows researchers, and the
algorithms that work for them, to find and use the data that they need in advanced automated analysis
rapidly and easily. In addition, the ecosystem should provide mechanisms to transform the results of
research into reusable knowledge by exploiting reference data (knowledge bases) and improving them
for future research. Data acquisition, analysis, transformation, and reuse constitute the pillars of a
virtuous cycle of data optimisation for better RD research. Importantly, applying these mechanisms
multiplies the value of RD data for Bonafide analysis at a global scale delivering the ERDERA Data
Hub (ERDERA-DH) as value proposition.
All ERDERA projects that manage data are expected to contribute to the ERDERA-DH. The
contributing project will benefit, but a test case for ERDERA as a partnership is that stakeholders
outside of an individual CRN, JTC, or CT project benefit from the ERDERA-DH. The role of the Data
Services Hub is to enable partners running projects within the ERDERA to deliver the ERDERA-DH.
Importantly, it will develop mechanisms to increase the value-adding capacity of ERDERA partnership
substantially. The volume and breadth of types of data and analyses that must constitute the ERDERA-
DH far exceeds that of previous projects.
Figure 10. Co-creating the ERDERA Data Hub as value proposition.
The Data Services Hub brings together, and leverages on, the outputs of projects and initiatives that
contribute to the global data strategy:
• EJP RD virtual platform that developed a set of standardised methods and tools to create a
federated network of resources relevant for RD research that are findable, accessible,
interoperable, and reusable also in automated scenarios (conform to FAIR principles), and
generated reference data (RD workflows and networks) based on system biology approaches;
• Solve-RD that set up methodologies and pipelines to foster genetic RD diagnosis and
developed a database of treatable RD variants (the Treatabolome);
• ERICA that created the first RD specific PCOMs repository based on a standard methodology
to code patient-centred instruments to measure functional impacts of RD;
• Orphanet, the knowledge base specific for RD, produces ontologies centred on the
ORPHAcodes, and provides a corpus of reference genetic, epidemiological, functional and
phenotypic data for RD research.
State of the art behind the WP13
The RD Virtual Platform (RD-VP) is a network of resources and data sources able to interoperate with
each other by the adoption of a set of semantic and technical standards that increase their readiness for
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RD research. Resources in the VP network can be found and queried in a federated manner through
entry points such as the VP Portal, that is a reference implementation for other stand-alone or plug-in
entry points. Examples are VP wide analysis functions incorporated in ERN web sites, Jupyter
notebooks for bioinformatics analysis, or resources that which to extend their data exploration
environment with RD resources. This ecosystem has been built during the EJP RD (2019-2024) and
will scale up in ERDERA for the network to be enlarged to new resources, and eventually other VP-
compliant thematic networks, and the resources’ content to be more deeply queryable and reusable for
RD research projects funded in ERDERA through Joint Transnational Calls (JTCs), clinical trials (CT)
or within the CRN.
Methodology
Methodology behind the orkstream ‘Data Services Hub’
Vision: The DSH is an integrated, evolving, set of methods, services, tools, and reference knowledge
bases usable by the RD multi-stakeholder’s community to perform more efficient research by
facilitating the capture, collection, and reuse of data. The DSH, as the ERDERA data infrastructure, is
a central component of the ERDERA value proposition. To achieve this vision, the DSH is developing
and providing scalable and sustainable solutions to the case studies in CRN and JTCs funded projects
and clinical trials (CT), as means to demonstrate the usefulness of the DSH for RD research.
The mission of the DSH is to develop and provide scalable and sustainable solutions to the case studies
proposed in CRN and JTCs, as means to demonstrate the usefulness of the DSH for RD research, by
creating a virtuous cycle from the harmonization, collection, integration, analysis, and reuse of data in
a diversity of contexts. In other words, by taking the ERDERA case studies as exemplars of the RD
research community needs, the DSH aims at tackling the scalability and the sustainability challenges
of a data infrastructure in the RD research field.
While the EJP RD has developed the federated infrastructure for RD research data, namely the Virtual
Platform (VP), by adopting a set of standards, both semantic and technical, methodologies and facilities
to find and access data for RD researchers, the DSH will scale up the VP thanks to the widening of the
case studies provided by the CRN and the JTC funded projects and CTs, which will trigger the
development or the refinement of a set of services and tools, which in turn will be integrated in the
ecosystem for future reuse. The whole DSH is designed as a virtuous cycle that can be triggered at any
stage by each of the case studies or projects in the ERDERA. WP13 will streamline the demands arising
from CRN or JTC-funded projects/CTs case studies to the appropriate DSH WP and ensure the
integration of other W s’ outputs in the federated V infrastructure, assessing and ensuring their
compliance to the ecosystem requirements, in particular their FAIRness and their findability by the
community through a VP Portal. WP14 will provide ERDERA researchers with methodologies and
tools to capture their data more easily in compliance with the RD adopted standards and optimized for
the specific aim for which they are collected, while WP15 will provide methods, tools and
infrastructure to deposit, share and analyse a diversity of data, with a special attention to the reusability
of results, in compliance with the VP requirements. Building on pre-existent knowledge resources,
WP16 will develop them further and integrate together around RD maps, guided from ERDERA case
studies, and capturing the reference knowledge produced by them. As part of its strategy, the DSH will
interact with other data infrastructures and initiatives as far as they stimulate DSH developments and
provide re-usable solutions to it.
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Figure 11. The Data Services Hub workflow towards the ERDERA Data Hub as a value
proposition
The Data Services Hub will provide consistent methods, tools and services embedded in a data
ecosystem, that are standardized and scalable. Seeking scalability and sustainability needs a stepwise
approach designed by tracking back from full delivery in Year 7, through Year 3 as a major milestone
and Year 1 as a baseline. Indeed, to ensure alignment across tasks in the WPs, across WPs within the
workstreams, and across other workstreams, it is crucial to lay out a workflow that helps establish the
interactions to provide specifications, proofs-of-concept, and the end results. Year 1 will specify the
requirements that need to be fulfilled to provide solutions to other workstreams’ case studies. This
needs to be aligned across all DSH WPs with WP13, to ensure we establish a well-aligned
infrastructure of tools and services. By Year 3 we will demonstrate feasibility and scalability of service
provision by delivering proof-of-concept solutions for most or all of the case studies taken. These
solutions will be scaled up to full delivery by the end of the 7-year-project.
The Data Services Hub considers the following requirements for AI approaches:
• Technically robust, accurate and reproducible, and able to deal with and inform about possible
failures, inaccuracies, and errors, proportionate to the assessed risk they pose. The approach
in the ERDERA DSH, will be robust and accurate in the sense of providing the adequate levels
of quality in the processes, and reproducible since techniques used will be documented
properly in the deliverables. As well failures and inaccuracies will be minimized in the DSH
as those techniques dealing with data, for instance in FAIRification processes which involve
suggesting ontology-based annotations for data elements and values, will be validated by data
stewards. The performance of this hybrid intelligence will be assessed and compared to that
of a purely manual approach to minimize annotation errors and bias. Another element is in the
support for the analysis with AI in WP15. AI training and analysis will be implemented as a
distributed AI support in a federated manner. This can easily scale-up and be reproducible in
the data nodes of the ERDERA federation.
• Socially robust, in that they duly consider the context and environment in which they operate.
The techniques to be used with AI within the DSH will be in cooperation with other tasks of
the project (e.g., WP6, 9, 10) where AI models will be used in the studies of different diseases
involving patients’ data. The social acceptance and context will be a part of the design of the
DSH requirements in WP13, and the operation environment oriented to the use of the results
by health professionals and health researchers.
• Reliable and function as intended, minimizing unintentional and unexpected harm, preventing
unacceptable harm, and safeguarding the physical and mental integrity of humans. The
application of AI will be reliable and avoiding the potential risks of harming even
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unintentionally. As commented, for FAIRification data processed, annotations for data
elements and values, are validated by data stewards. We will safeguard the potential misuse
of the processes with a human validation, providing human friendly tools for such purpose for
the data stewards.
• Able to provide a suitable explanation of their decision-making processes, whenever they can
have a significant impact on people’s lives. Data integration and FAIRification of data involve
different processes which imply data transformation, homogenization and other processes
which can be supported using AI methods. The methods which will be used (knowledge
graphs, pathway-level interpretations, ontology-based methods, or neural networks-based
methods among others) will be provided with the required level of explainability and
"interpretability" of the decisions suggested, discarding methods which are not able to provide
the sufficient level of explanation with the current available techniques (e.g., SHAP, LIME,
etc.).
Definitions:
The ERDERA Data Hub as value proposition, or the ‘ERDERA Data Hub’ (ERDERA-DH): an
integrated network of Findable, Accessible, Interoperable, and Reusable sources of data and other
materials, analysis methods, knowledge bases, and high-performance computing components that is
collectively created by all partners in ERDERA. Integrating resources in a network and making them
FAIR adds value to the resources, constituting a critical outcome of ERDERA. The services offered
by the Data Services Hub facilitate a transformation of data, analysis, knowledge, and compute services
for use by a wide range of stakeholders, including the original creators. The services are created in
collaboration between ERDERA partners and the Data Services Hub.
• DSH methods: Set of procedures and workups provided to researchers and to resources and
data sources holders to improve their integration into the VP ecosystem, the preparation of
their data, the data sharing and analysis and the exploitation of reference knowledge resources.
Ex: VP onboarding guidance.
• DSH tools: technical artifacts developed and provided within the DSH, together with their
technical specifications. Ex. FAIR-in-a-Box; VP Beacon2 API specification.
• DSH services: a set of human or technical facilities for end-users to apply the DHS methods
and/or implement the DSH tools. Ex: VP onboarding stewardship; VP query facilities;
documentation and tutorials to ‘do it yourself’ purposes as a package.
Methodology behind the WP13
This WP focuses on the maintenance and evolution of the Rare Diseases Virtual Platform as the
foundation for the ERDERA-DH. Here, we consider evolution both in the sense of expanding the
number of participating resources (T13.3 – VP onboarding services) and in the sense of increasing the
features, robustness, and resilience of the platform (T13.2 – RD-VP evolution and scaling-up). These
evolutions are guided by the strategies defined by T13.1 – VP/Data Services Hub steering regarding
new resources or resource types that should be included in the RD-VP. These new resources may have
characteristics and requirements that either completely fit the RD-VP or require modifications and/or
adjustments to the platform to be properly onboarded. Once needs for adjustments to the platform are
identified, T13.2, which is responsible for the curation of the RD-V ’s architecture, proceeds to
evaluate the requirements and modify the RD-V ’s architecture and implementation guidelines
accordingly. These processes of identifying new resources to be connected to the platform and new
functionality for the platform will be constant throughout the duration of the project. Main
methodological principles in this WP are:
• Prioritization: Adapt and evolve the VP so that WP14, WP15 and WP16 can provide the
services needed by CRN’s projects to deliver, and to dynamically adapt the provision of
services to JTC/CT funded researchers.
• Agility and continuous delivery: A robust and size-limited development team will work in
agile cycles (sprints), T13.2 acting as Product owner and the CTO acting as scrum master.
• Interoperability and harmonization: For semantic and technical interoperability developed in
EJP RD will be enforced to make use of the standard ontologies (in WP16) and to allow
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different technical standards to interact. The list of EJP RD selected standards will be used and
updated during the ERDERA partnership.
• Traceability: Developments, models, specifications will be documented and versioned in a
GitHub space.
• Quality: FAIR principles- and VP specifications compliance will be assessed.
Objectives
In Year 1, the objectives of WP13 are the following:
• To organise the workflow and to technically lead the teams of Data Services Hub and
CRN/JTC/CT researchers and developers to ensure a perfect alignment of Data Services Hub
activities from Year 1 onwards. Ultimately, to effectively complete projects that result in
increasing numbers of stakeholders contributing to the Data Hub as value proposition
(effectuate the CTO role).
• To support WP14-16 in their collaborations with projects contributing data, analysis, and
knowledge to the ERDERA data hub as value proposition.
• To scale up the federated infrastructure built in EJP RD (RD-VP) by evolving a service-
oriented architecture (SOA) to accommodate data, knowledge, and analysis methods
from related CRN/JTC/CT projects.
• To onboard sets of resources, to make them automatically findable within the SOA-based
ecosystem, accessible under well-defined conditions, interoperable based on the ecosystem's
implementation guidelines, and reusable (allow for querying and reusing data within the
connected resources).
• To continue or start the interactions with other ecosystems in Europe and at
the international level as far as they respond to ERDERA needs.
Description of Programmed Activities
T13.1. VP/Data Service Hub steering (M1-M12) TL: INSERM_Orphanet, LUMC ; Contributors:
AUMC, UTWENTE, Pfizer*, ROCHE*. Data Services Hub Task leaders, CRNs WS leaders, Funding
research WS leaders, National and international alignment WS leaders. T13.1. aligns with GO:1-3;
SO:1-5; OO:2.
Year 1 will focus on the creation of the Data Services Hub (DSH) procedures and workflows, to ensure
cross-DSH alignment and integration in delivering a scalable and sustainable data service ecosystem
based on the extension of the EJP RD Virtual Platform content and functionalities. The extension and
evolution of the RD VP will follow a steering and prioritization process at the strategic level and an
agile process at the operational level. By the end of Year 1, it will deliver a steering and prioritization
model to drive a cost-efficient decision-making process on 1) methods that support scaling up the
connection of new resources and 2) supporting new functionalities demonstrating added value of the
ERDERA. The VP is expected to evolve into an intelligent learning system in which newly added
resources contribute to statistical, AI, and machine learning applications. WP14-16 respectively guide
addition by internal and external stakeholders of data resources (WP14), analysis methods and
infrastructure (WP15), and knowledge bases (WP16). Each contributes new functionality that may
trigger an update of VP specifications and onboarding guidance. Decisions will drive the prioritization
of activities of T13.2 (VP evolutions) and T13.3 (onboarding resources) to allow WPs 14, 15 and 16
deliver services by which RD researchers can contribute to the ERDERA Data Hub as a value
proposition. Care will be taken to ensure that strategic steering remains high-level so that the
operational teams can achieve optimal usable results.
The strategic prioritization of the DSH activities will be done in cooperation with the global ERDERA
strategy (T1.2) to ensure that services developed between projects and the DSH remain aligned with
the SRIA specific objectives, and with the ERDERA overarching prioritization. Strategic interactions
will occur during the AWPs preparation and at any time unplanned needs arrive and require
prioritization decisions that may have an impact on the ongoing service delivery. It will contribute to
the mentoring and consultancy services (WP17) to ensure that all ERDERA expertise is applied in
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optimizing contributions to the ERDERA outputs. Special attention will be given to the cooperation
with other European and international initiatives such as EHDS, EOSC, EU Platform for RD
registration, ELIXIR, 1+MG/GDI, C-Path, GA4GH, etc., as they are required to operate projects
during Year 1. In addition, this task will ensure cross-talks with the ERDERA ELSI, IP, regulatory
services, as well as sustainability strategy (T1.5) in relation to aspects relevant for the VP ecosystem,
such as data controllership, data access, data sharing, data privacy, intellectual property, and licensing.
Operationally, T13.1 will process incoming needs or requests (demands), should they come from
Funding research and CRN workstreams, from external users, or internally from other Data Services
Hub teams. The first incoming needs will be collected as a backlog by the Project manager in
coordination meetings with DSH WP leaders, WS leaders (CRNs, Funding research, National and
international alignment, Acceleration Hub). Contributions to the VP evolution (services or new
resources) will be organized in regular sprint meetings at most one month apart. Development cycle
(Sprint) meetings will be organized virtually monthly to decide on the work to be achieved by T13.2
(VP evolutions) and T14.3 (onboarding resources), and WPs 14 to 16, as well as to monitor the
performance of the former sprint. Technical decisions in the agile process will be overseen by the
acting CTO (WP co-lead Luiz Bonino). Decisions with potential impact on strategic DSH goals will
be evaluated by T13.1 leaders and the CTO, including an assessment of the feasibility (effort needed
and impact) and the criticality for the data objectives of the ERDERA. Demands and developments
will be traced in GitHub or a similar tracking system. The task monitors that the needs and requests
feed into an agile, user-centric cycle of defining user stories, designating product owners, and
delivering services and onboarded resources in test-develop-feedback cycles. A common factor in line
with the DSH strategy is that services must support increasing growth of the VP. ser
Service provision to Year 1 case studies (demands) according to this methodology will allow to set
the baseline for further scalability over the forthcoming years, towards progressive delivery of services
for most or all the CRN activities & ERDERA funded research by the end of this partnership in a
consistent, standardized way. At the end of Year 1, the strategic and operational decision-making
processes will be set up, to ensure that the DSH as a whole runs in an aligned and efficient way.
T13.2. RD-VP evolution and scaling up (M1-M12) TL: UTWENTE, AIT; Contributors:
INSERM_Orphanet, BBMRI-ERIC, UPM, GUF, UMCG, LUMC, ULEIC, CNAG, UKLFR, QUB-UK*.
T13.2. aligns with GO:1-3; SO:1-5; OO:2.
This task has two main responsibilities:
• Maintain and evolve the RD-V ’s architecture and specifications.
• Overlook the developments to guarantee that they conform with the V ’s architecture.
The steering and prioritization of connecting new resources to the RD-VP and new functionality for
the platform defined in T13.1 will require adjustments to the RD-V ’s architecture design and,
consequently, to the platform’s specifications. T13.2 then analyses these new requirements for the
platform based on the characteristics of the new resources to be connected, design the new
functionality, and updates the RD-V ’s architecture and update the RD-V ’s specifications
accordingly.
Once the updated architecture and specifications are released, T13.2 overlooks the implementation of
the changes on the impacted components, software applications and services to guarantee conformance
with the specifications. Moreover, T13.2 collaborates with T13.3 to guarantee that the onboarding of
the new resources occurs based on the latest design and specifications.
In summary, the activities of this task include the following:
• Curation and evolution of the Virtual latform’s architecture and specifications [UTwente,
AIT] in collaboration with all involved partners and T13.1, T13.3.
• Overarching technical development management of the Virtual Platform [UTwente, AIT] to
guarantee compliance of the developments with the V ’s architecture and specifications in
collaboration with the stakeholders responsible for the developments.
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• Service-oriented evolution of components, including VP Index evolutive maintenance
[UTwente, LUMC], metadata and data models updates [UPM, UTwente, LUMC, QUB-UK],
AAI and consent [UMCG, BBMRI-ERIC], PPRL interoperability [AIT], core
INSERM_Orphanet services [INSERM_Orphanet], discovery services based on Beacon
framework [UMCG, ULEIC] and distributed analysis services [UMCG, UPM, LUMC].
• VP Portal: Maintenance (e.g., bug fixes, security, and software updates) and upgrade of the
VP Portal functionalities [GUF], integrate WP16 knowledge bases and collaborate with the
ERDERA website service provider for the user interface.
At the end of Year 1,
• A revised version of the VP architecture specifications (including expanded metadata and
data models, standards and requirements) will be delivered as a baseline for the subsequent
work in the ERDERA.
• A fully operational VP allowing for deep federated query and analysis based on selected use
cases supporting some of the CRN case studies (based on the 13.1 prioritization) will be
delivered.
T13.3. VP onboarding services (M1-M12) TL: UMCG, UPM; Participants: SRUMC, LUMC,
AUMC. T13.3. aligns with GO:1-3; SO:1-5; OO:2.
This task is responsible for the maintenance and evolution of the documentation, services and support
to onboard resources into the RD-VP. Based on the steering and prioritization of new resources to be
connected to the RD-VP conducted by T13.1 and the specifications of the RD-VP defined by T13.2,
T13.3 engages with these resources to offer support for the onboarding process. In Year 1, it is
expected that the first outputs of WP16, namely the PCOMs repository, the Treatabolome and
knowledge bases and ontologies as they are released, will be onboarded in Year 1, as well as the
ERDERA data platform (ST1.1.4) and the knowledge Hub (monitoring system platform, ST1.3.1).
Data sources and analysis platforms entering in collaboration with WP14 and WP15 will also be
progressively onboarded from Year 1. Completion of Solve-RD data infrastructure onboarding will be
achieved.
According to the case studies, automated onboarding services will be developed: To assist new
resources who request onboarding, this task will start the following developments during Year 1 and
test them on a subset of low-hanging fruit resources, selected on their readiness for one or several of
the following approaches:
• Design and implement fully automated importing tools capable of recognizing a myriad of
existing metadata schemas in use globally (including, but not limited to, schema.org, HCLS
Dataset Descriptors, and VoID) and automatically registering them with the VP.
• Implement easy to install and operate data capture tools to connect local and networked
partners desiring integration with the RD-VP, such as but not limited to MOLGENIS and
similar tools for data management, and federated analysis protocols such as DataSHIELD,
using aforementioned semantic templates to enable FAIR data capture at source. Enhance
this “rapid bootstrapping” of onboarding requests by automated text-mining of existing Web
pages to generate the semantic annotations utilized by the VP to aid discovery. DataSHIELD,
using aforementioned semantic templates to enable FAIR data capture at source.
nboarding of new resources will track closely with the requirements of W 1 and W 1 to aid in the
rapid establishment of analytical pipelines through improved resource discovery.
Automation of the onboarding process and expansion into new resource types requires extra attention
be given to the appropriate capture of legal and IP expectations and constraints. The Expertise Services
Hub (especially WP18 Regulatory support service) will be consulted to ensure proper usage, and credit,
of the onboarded resources.
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The onboarding task will closely interact with the mentoring and consultancy service that integrates
all ERDERA components and is designed to scale with the number of projects funded through JTC and
CRN projects. In a direct feedback loop the consultancy will apply onboarding services for
new resource types and provide feedback for their evolution. Conversely, the added value of
onboarding will be directly demonstrable by analyses that run on onboarded resources.
Requirements for the modifications of the RD-VP, that may emerge when onboarding resources, will
be discussed with T13.2 to generate the related update of the RD-V 's architecture and specifications.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 14 Start Date or Starting M1: September 2024
Number Event
Set of Activities Data readiness services
Title
Short name of UPM (18) LUMC C-PATH AUMC SRUMC DDF UMCG
participant & (No) (16) (14) (20) (11) (51) (19)
Person Months 9 8 9 5 5 4 3
Short name of UTWENTE AIT CNAG CRG- ISS (75)
participant & (17) (36) (10) CERCA
(No) (145)
Person Months 3 3 1.5 1 0.6
Start month M1 End month M12
State of the art behind this WP
Being able to efficiently use and reuse data and knowledge across multiple sources, often expressed as
a need for data sharing and open science, has been a long-term priority for the RD community10,11.
The community has embraced many initiatives towards this priority. The Joint Research Centre
developed a community service, the EU platform for RD registration, to register RD registries and the
types of data elements that they collect. It also offers services such as SPIDER for privacy-preserving
data linkage. A recent example in diagnostics is the Solve-RD project that developed streamlined
processes to diagnose RDs by identifying genetic diagnostic markers in sequenced genomes (see
WP6). The community furthermore embraced the FAIR principles in order to achieve higher degrees
of findability, accessibility, interoperability and reuse of their data and services. Experiences from
RDs' ‘Bring Your wn Data’ workshops have contributed to conceptualization of the 1 ‘FAIR
guiding principles for scientific data management’ in the 016 milestone publication12, and to first tools
for publishing FAIR metadata that can meet RD community needs13. The FAIR principles have seen
remarkable worldwide endorsement, including from IRDiRC. The RD community, not least people
living with a rare condition14, wishes to benefit from their widespread implementation. Therefore, the
EJP RD has developed specifications, data models, tools, and implementation guidance for resources
to contribute FAIR data to a Virtual Platform of FAIR resources (VP; see WP13). Contributing FAIR
data to this network implies that records in the data sets and the relationships between them are machine
actionable for automated analysis across multiple resources. Records are automatically findable by
globally unique identifiers and rich metadata, accessible by providing access protocols, interoperable
with other FAIR data by providing computer understandable ontological descriptions of the data
records, and reusable by providing access conditions and information about the origin of the data
records. Ontologies are used for the implementation, because they provide computers with a hierarchy
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of computer-understandable identifiers describing types and relations in a set of records, as well as
human readable labels for these identifiers. An ontological model can span multiple types of data, such
as ‘F 08del’ (variant), ‘wheelchair bound’ (quality of life measure), ‘only share with my MD’ (access
condition). Most biomedical ontologies use world wide web technology as backbone ensuring that data
across multiple databases across the world become virtually linked, even if they are stored in different
systems in different data formats. This accommodates the biomedical domain where it is unlikely that
one standard will prevail for all types of data. The EJP RD further created mappings and conversions
between commonly used data standards and ontologies (e.g. mappings for CDISC, Obo Foundry
ontologies, OMOP, FHIR, etc.). A factor to scale up FAIRification of data records is to supply
automated mapping services for local systems.
WP14 depends on WP13 for functional FAIR data. WP14 focuses on data records that are typically in
some form of container, possibly behind a firewall. Henceforth, FAIR data records (WP14) require
their container to also be FAIR in the VP (WP13).
In parallel to the efforts to making data FAIR by project, it is important to note that there are already
public resources for certain types of data that make this process easy for the user providing them also
with the facilities to store and share their data easily, and even analyse it. The two main resources
providing the data management, sustainability, and data sharing services for genome-phenome data,
but also other personally identifiable experimental data types, will be the European Genome-Phenome
Archive (EGA) and the RD-Connect Genome-Phenome Analysis Platform (GPAP), both part of the
EJP RD VP and resource map and key resources for the Solve-RD infrastructure. The RD-Connect
GPAP is an IRDiRC recognised resource which was further developed during EJP RD (e.g.,
phenotyping module, completely redesigned UX/UI, many new functionalities, automations,
adaptation to GRCh38, connection to other resources and the VP, etc.). It will be key to harmonise the
data collated by the CRN and funded projects. The EGA is an ELIXIR recommended resource which
in Solve-RD has played a central role for the management, distribution and controlled access of the
data, centrally and beyond the project. In the B1MG project, federated instances from both the EGA
(Federated EGA; FEGA) and the GPAP were used, among other services, for the Proof of Concept to
show how federated data discovery and access of RD data for 1+MG could work.
A major next challenge for the RD community is to enable scaling up the application of services to
make more data ready more efficiently for more types of analyses.
Methodology
Data readiness services will be provided through an interdisciplinary, collaborative methodology,
guided by strategic guidance from WP13. WP14 contributes to the co-creation of services (protocols,
guidelines, project organisation) for preparing data (T14.1) and to the development of data readiness
tools (T14.2). For this purpose, a team is formed by a CRN or a funded project, and WP14. In
particular, WP14 contributes to the efforts of the project to also prepare and augment data for reuse by
others in ERDERA, enabling simple queries to advanced automated analysis across multiple types of
data stored in multiple locations. The scope is data records. The FAIRness of their container (local
database or repository) and the specifications for communicating between containers in a network are
the scope of WP13. WP15 will provide requirements of analysis platforms and algorithms, and WP16
will provide guidance regarding interoperability of ERDERA outcomes with the knowledge bases of
W 16. The contribution from W 1 constitutes a further ‘ERDERA top-up’ for the project teams to
contribute to the ERDERA-DH.
The data readiness services and tools that ERDERA projects produce in collaboration with WP14,
facilitate resources to contribute FAIR data to the ERDERA-DH. They enable resources to give access
to their data, their data exchange formats, their APIs, and their data record access conditions (if any at
that level) in terms of ontology-based machine actionable models. At the highest level, automation
‘agents’ can interpret this information and perform appropriate actions accordingly.
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This WP will also provide data ingestion services through resources further developed and adapted to
RDs in projects such as EJP RD and Solve-RD. FAIRification methods that are to be applied ‘at source’
will be incorporated in existing procedures and tools as much as possible.
Objectives
The overall objective of this WP is to expand the use of services by which RD partners contribute to
the ERDERA's robust infrastructure of data, resources, and expertise (SRIA OO2) to accelerate the
automated ethical and legal exploitation of the healthcare and research data from their projects (based
on guidance from WP1 and WP17-19), boosting scientific and regulatory evaluation and healthcare
delivery (SRIA SO2).
Specific objectives for Year 1 in this WP are:
• To provide the requirements and design the workflow, including a first evaluation for RD
partners to efficiently organise interdisciplinary data readiness teams executing FAIR data
creation and FAIR data processing customised to their project to accelerate the expansion of
the robust ERDERA data and knowledge infrastructure, ‘the data hub', supporting in-project
analysis, federated learning and AI across projects, and the regulatory pathway in drug
development, paving the way to fully develop this objective in next years;
• To provide a first prototype of design of project ingestion tooling starting from the design of
different tools coming from previous projects and developments, selecting the most
appropriate, so in the next years tools, semantic data models, and specifications that enable
RD partners to automate making data records that they manage ready to be findable,
accessible, interoperable, and reusable for their project and for accelerating reuse by others via
the ERDERA Data Hub, and where needed: initiate and monitor the development of missing
tools, models and specifications;
• To study the data kinds and quality (RWD, synthetic, clinical trial collected) Needed in at least
2 pilot cases coming from WP9, and improving the interoperability of platforms for this
purpose in other work packages to prepare for first application to the pilot cases after Year 1,
providing tools and services for RD partners to prepare data for the regulatory pathway in drug
development, in collaboration with WP18, including clinical collected data and synthetic data;
• To start the contribution to the design and use of a data hub personal data control that
guarantees that individuals can have access to data records derived from them and, to set data
record use conditions.
Description of Programmed Activities
T14.1. Services for making data findable, accessible, interoperable, reusable for automated
applications (M1-M12) TL: SRUMC, AUMC; Contributors: LUMC, UTWENTE, UPM, WDO, ISS,
CNAG, FGB. T14.1. aligns with GO:1-3; SO:2,4,5; OO:1-5.
This task focuses on providing a workflow by which RD partners increase the exploitability of the data
that they manage for their project and for the ERDERA, building on previous work. The task starts
with defining an initial landscape of FAIRification needs across the ERDERA projects, in order to
smartly plan a FAIRification strategy that incorporates the demand of the ERDERA well as the
requirement to increase capacity by delivering scaling-up methods.
Following the landscape analysis, a staging plan will be made. As the project progresses, the required
WP14 capacity required to contribute to projects making data ready should decrease. Thus, as the
project progresses, we should see an increasing number of data type categories that are being
FAIRified, while for WP14 R&D an increasing number of different data types will be handled for one
running use case. The Year 1 will be focused on:
• Requirements and FAIR implementation choices for data are identified. Therefore, online
‘Data for Machine’ workshops are organised, and workshops to define the boundaries of
responsible research. The aim of these workshops is to identify existing practices and define
new agreements on how to implement FAIR principles for the data records in a project or
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community. From there, a data readiness plan is defined, and a team is formed between the
ERDERA projects and WP14 specialists.
• Following the data readiness analysis, a project-specific data preparation team is organised
together with the ERDERA project, WP13 and incorporating advice from the mentoring and
consultancy service (WP17). They run in agile cycles. WP14 adds data readiness experts, and
additional experts as needed.
• Data readiness workflow will be evaluated and refined, both on the direct outcomes of the
workflows in terms of better prepared data, as well as to what extend the workflow leads to
accelerated adoption and prepare for Year 2 and 3 the implementation and support for real
time and advanced data analysis on better prepared data.
T14.2. Data ingestion tools (M1-M12) TL: UMCG, UPM; Contributors: AUMC, LUMC, SRUMC,
AIT, CNAG, CRG-CERCA. T14.2. aligns with GO:3; SO:1-3,5; OO:1-3,5.
This task focuses on providing broadly applicable tools that are used by the data readiness teams to
accelerate the usability of data in the VP network of resources. Data are made usable for responsible
federated analysis on connected computing and analysis facilities. It builds on services and standards
previously developed.
The Year 1 will be focused on:
• Providing the design of project ingestion tooling starting from the design of different tools
coming from previous projects and developments, selecting the most appropriate.
• Implementing a first prototype with the needed improvements to allow clinical cases to ingest
data to run their experiments, at least for clinical data (tabular). This first version will be
improved and completed with more data categories ingestion tools and evolution of the
selected tools.
T14.3. Services for advancing the regulatory pathway in drug development (M1-M12) TL: C-
PATH, DDF; Contributors: WDO, LUMC. T14.3. aligns with GO:2; SO:2,4,5; OO:1-5.
The development of existing and new predictive tools and methods that would qualify as Drug
Development Tools (DDTs) require regulatory and data science strategies at design and planning stage
to accelerate implementation of novel technologies, innovative trial design and the use of Real-World
Evidence (RWE) in study design and medicines developments, besides the acceptability and validity
of synthetic data, especially in ultra-rare diseases.
This task aims to maximise the use of data to develop tools, accessible to the community, for optimising
and accelerating drug development for RDs. Such data should be in a regulatory-grade format and
FAIR (T14.2), suitable for analytics, ensuring the quality of data, and enabling re-use of data. The
Year 1 will be focused on:
• Studying the data kinds and quality (RWD, Synthetic, clinical trial data) needed in at least 2
pilot cases coming from WP9 and improving the interoperability of platforms for this purpose
in other WPs.
• Study the re-usability and shareability of data.
• Prepare for first application to the pilot cases.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 15 Start Date or Starting M1: September 2024
Number Event
Set of Activities Title Data sharing and analysis services
Short name of UMCG CAD CNAG UPM (18) UU ULEIC* IMAGINE
participant & (No) (19) (1.1) (10) (121) (171) (70)
Person Months 26 14.5 13.5 8.25 7.25 5.5 4.5
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Short name of CHEO-RI* (151)
participant & (No)
Person Months
Start month M1 End month M12
*Associated partners providing in-kind contribution
State of the art behind this WP
WP15 starting point is the reuse of existing resources, tools, technology and methods, which will be
further developed, adapted, scaled up and connected to service the CRN and funded project high data
analysis needs. Key resources to reuse include high performance compute ‘cloud’ solutions from EJ
RD, Solve-RD ‘sandbox’, CINECA, E SClife; federated analysis server installations by
Genomed4All, EUCAN-connect/DataSHIELD; and user facing analysis services such as the RD-
Connect GPAP and MOLGENIS. The EGA will provide data ingestion and data management services
through WP6 and WP14. The provision of centralized, distributed or federated analysis functionalities
in WP15 will mainly rely on trusted research environments (TRE) (in Solve-RD known as the
‘Sandbox’, operated by UMCG with a mirror site at EBI) that may be deployed ad-hoc, portable
pipelines, the RD-Connect GPAP and local implementations of the GPAP or similar platforms, as
identified in WP7. The TRE is a general-purpose high-performance computing environment for
bioinformatics analysis (based on Linux clusters with task scheduling) matching the common practices
used by most partners, that can be cloned and scaled to match the needs of the specific group. It
includes also MOLGENIS RD3, which is a track and trace database system for patients, samples, and
data files used in the analysis (MOLGENIS is also used for 5 ERN patient registries). The RD-Connect
GPAP enables collaborative genome-phenome analysis for research on diagnosis and novel gene
discovery, including patient matchmaking. Local implementations of the GPAP may be a route for
genome-phenome data federation, as used in the B1MG Proof of Concept on Rare Diseases 15. While
initiatives like 1+MG have a use case on RDs, its implementation project (GDI) does not include a RD
use case and focuses mainly on the implementation of the provision of access across borders of
genomic and phenotypic data16, rather than on the analysis of the data. UU, UMCG and CRG are co-
leaders of three of the GDI Vanguard (early adopter) nodes: Spain, Netherlands, and Sweden.
However, efforts are being done in parallel on federated data discovery, access and analysis in
international projects and initiatives such as ELIXIR, DataSHIELD, EOSC, Genomed4All, GA4GH
or MatchMaker Exchange. Many of the partners in WP15 are key players in those activities, and it is
expected that newer protocols, standards, tools, and APIs will become available during the ERDERA
project, enabling their customization and implementation for the full range of ERDERA CRN needs,
from distributed and federated large scale genomics analysis to federated analysis of clinical outcomes
across the HCP.
Methodology
An advantage of the RD community is that it has broadly adopted ontologies and standards such as
HPO, ORDO and OMIM, at least for clinical research, facilitating the interoperability of datasets since
they are already harmonized to a certain extent. WP15 will rely on WP13 for the connection and
interoperability of resources, WP14 for data ingestion and harmonization and WP16 for additional
knowledge resources useful for data analysis (I.e. annotation, filtering and interpretation). The analysis
needs from the CRN streams in first place, and the ERDERA funded projects in second place, will
drive the developments for WP15. Sustained efforts will be carried out to cover the CRN and funded
projects needs w, therefore WP15 co-leads will coordinate a working group including at least WP15
TLs and the CRN stream leaders who will meet at least every six months to discuss the analysis
infrastructure requirements, and prioritise the developments and support needed from WP15, as well
as acquire additional compute/storage capacity if necessary (e.g. in-kind from ERDERA partners and
by forging partnerships with large public or private compute infrastructures). For example, ERDERA
will strive to use EU capacities (also for GDPR compliance and data security issues) such as those
from the Euro-HPC Joint Undertaking, another Partnership under Horizon Europe. Access to high
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computing is not guaranteed and has to follow a standardised application process including peer
review, but it is worth investigating and applying, given the strategic relevance for the sake of RD
patients but also to improve EU cooperation and capacities on health data in general."
T15.1 will sustain, exploit, and adapt environments and resources created for large scale collaborative
data analysis. The main three assets will be (a) a network of Trusted Research Environments (TRE)
for high performance data analysis by individuals and analysis groups, (b) therein a collection of
deployed analysis tools and best practice pipelines linking these tools into effective data analysis
workflows to be used at scale addressing needs of the CRN and research project and (c) expansions of
the a + b to enable federated multi-centre analysis as secure processing environment (SPE) where the
analysis can be orchestrated across multiple data analysis sites, optionally in a privacy preserving way
(I.e. without sharing patient identity data) to address ELSI and GDPR requirements. In Years 1-3, the
priority will be on streamlining analysis activities from the CRN, scaling up from best practices
developed in the Solve-RD project with contributions from EJP RD and CINECA, and the integration
of best practices and analysis services from partners that were not in EJP RD. Next to providing
coordination and connections to local compute facility providers in the CRN for distributed analyses
(where analysis is done on in-house computer clusters by local staff), the main effort will be to operate
a scalable TRE environment (in Solve-RD known as the ‘Sandbox’, operated by UMCG) with
sufficient capacity and relevant tools for researchers from multiple centres to receive accounts and
collaboratively analyse CRN data. The goal is to enable CRN to receive access to a TRE so data
analysis task forces and data interpretation task forces (DATF/DITF) can effectively collaborate
around the data. Main effort will be to make these environments operational with the option for projects
to scale up the environment (e.g. into Azure). In addition, updates will be provided to keep the TRE
up to date considering TRE developments in EOSC, EHDS and potentially GDI, and aiming for ISO
27001 certification. It will also be necessary to develop a seamless tracking system for data. Metadata,
analyses, and results, tightly linked to the EGA and the RD-Connect GPAP, geared towards a clinical
researcher profile. This system will be based on the Solve-RD RD3 system, mainly developed upon
MOLGENIS software, and incorporating recommendations and components from FAIR genomes
project (a good practice now incorporated into GDI) and Café Variome. It should be user friendly for
clinical researchers and be able to integrate seamlessly with other resources (including the VP), through
APIs (RDF, REST and GraphQL), a common authentication and authorization standards (LS AAI),
and domain specific standards for data and discovery such as Beacon v2 and other GA4GH standards.
The tracking system should enable tracking where all the generated results in the CRN are and enable
to capture the feedback from the variant interpretation conducted in WP7 through the RD-Connect
GPAP or other local platforms used in a federated setting. This system should be portable, with the
aim that it can be installed on nodes participating in the federated analysis approaches of the CRN.
The bulk of T15.2 efforts will be directed to the implementation of portable pipelines based on CRN
and JTC project prioritization. The focus will be on professional implementation and documentation
of proven methods into robust and portable pipelines, such that they can be easily deployed at the
connected compute centres to provide the capacity for the ambitious CRN goals (e.g. 100k genomes
analysed in a distributed and/or federated manner). As many ERDERA partners already have mature
pipelines, the task will focus in Years 1-3 on integrating the best components of these pipelines
and/or provide cross validation of these pipelines to ensure their outcomes can be jointly
analysed, i.e., transforming from currently parallel development efforts at national/local level (e.g.
local GPAP/CNAG, MOLGENIS/UMCG VIP, PFMG, Clinical Genomics Sweden) into a
collaborative network of pipeline developers reducing duplicate efforts by sharing building blocks (e.g.
containers) and sub-workflows. Next to pipelines, further development and integration of annotation,
knowledge, and analysis servers such as C-PATH, RD-Connect GPAP, and many more, are expected,
in particular for outcome and therapeutics workstream into VP services. Especially for the GPAP, it
will be necessary to explore ways of structuring the data and backend modifications that will allow the
system to still ingest and query in reasonable time the amount of data envisioned in the CRN analysis
and to develop mechanisms to enable federation of data and analysis. It will also be necessary to further
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develop and speed up the pyGPAP module, key for automating variant filtering and prioritization
across thousands of samples and generating the integrated and user-friendly results for the DITFs.
T15.3 aims to contribute to the development and utilization of the necessary infrastructure to provide
federated analysis services. ST15.3.1 will develop the necessary infrastructure and service to move
from ‘centralized’ to ‘federated’ analysis of virtual patient cohorts across multiple centres. The focus
will be on enabling federated execution of the analysis where patient data doesn’t need to be all
centrally shared but instead is processed ‘at source’ and only non-identifiable results are shared. This
federation of ‘Secure rocessing Environments’ (S E) is motivated in part by ELSI and GD R
considerations, where legal and ethical considerations prohibit the data transfer of privacy sensitive
data. However, via this federation it will be possible to scale up to a much larger patient sample sizes
while making use of local compute capacity that is impossible to fund centrally. It will also be possible
to scale up the number of repositories and registries, without the need to move data to a central server.
A close collaboration with emerging EHDS developments is expected. The activities will make use of
and combine emerging classes of federated analysis, such as based on semantic web technology,
container based technology (e.g. where analysis pipelines as a whole are defined beforehand and when
approved can be executed in the federation), distributed AI models with containers (similar, but with
different ways of averaging and consolidating results based on nodes quality) and secure command
based (e.g. DataSHIELD, where each command is shielded giving researcher flexibility to create new
workflows without approval process) besides the federated data platform able to deploy distributed
algorithms, train, execute and complete the life cycle of the AI models with the data in distributed
locations. Finally, via this federated approach the ST to create user friendly ‘bundles’ of data analysis
tools that can easily be deployed on premise or make use of HCPs for initial model training and
parameter consolidation. DataSHIELD
In Years 1-3, ST15.3.2 will map the CRN needs on federated analysis with the technical solutions
already proposed and/or available in international projects and initiatives such as 1+MG/GDI, ELIXIR,
EOSC, Genomed4All, GA4GH, MatchMaker Exchange etc. It is likely that it will not be possible to
even visit the data from the participating partners that cannot contribute data for the distributed
analysis. This will call for federated approaches in which coordinated queries or analyses will need to
run where the data is being hosted. The needs-to-solutions mapping will lead to the definition of two
use cases and the preparation of a technical plan for federated analysis together with WPs 6-8 and ST.
This will be followed, still in Years 1-3, by the initial technical developments to make this possible
and showcase the use cases. It is envisioned that the developments will need to focus on one-sided and
zero-sided matchmaking as well as enabling machine learning models to be trained in a federated
manner, collecting the non-identifiable results centrally. Collaboration with the CRN will also be a key
point to understand how coordinated interpretation of variants can be made while still preserving the
privacy of the data. In Years 4-7, the aim will be to collaborate on 2 proof of concept use cases on
federated learning. Although further discussion will be needed, the first one could aim to discover new
potential gene-disease association thanks to the increased sample size of all the independent datasets.
The second one may aim to look for modifiers in those cases that have already been molecularly
diagnosed, considering the different clinical presentations that mutations on the same gene can
present.
Objectives
The overall objective of WP15 is to provide an up scalable and distributable data analysis infrastructure
to serve the CRN and funded projects prioritised needs.
The specific objectives of WP15 for AWP1:
• First release of analysis ready reference deployments of the ERDERA analysis infrastructure,
including support and interoperability with WP13-15 data ingestion, and ability to scale to
cloud computing matching CRN prioritised needs;
• Collect and develop protocols, software and pipelines for large data sets and high-performance
computing (HPC) analyses and deploy to the infrastructure, with priority on CRN first analysis
objectives;
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• Collect and develop protocols, software and systems that enable federated data analysis use
cases and pilots, with focus on a demonstrator that integrates the main federated analysis
frameworks.
Description of Programmed Activities
T15.1. Data analysis platform deployment (M1-M12) TL: UMCG, ULEIC*; Contributor: CNAG,
AIT. T15.1. aligns with GO:1-3; SO:1,2,4,5; OO:1-5.
This task will provide the coordination and integration of WP15 services into a ready to use operational
infrastructure for ERDERA data analysis (see tasks below) through key resources, i.e., high
performance compute ‘cloud’ solutions from EJ -RD, Solve-RD ‘sandbox’, CINECA, E SClife;
federated analysis server installations by Genomed4All, EUCAN-connect; and user facing analysis
services such as the RD-Connect GPAP (or local GPAP installations) and MOLGENIS. The
infrastructure consists of portable and interoperable packages, including SOPs, such that they can be
installed and scaled up by ERDERA partners on-site or on external (cloud) providers (at a fee for
service). A key development of the task will be a system to track data, metadata, analyses, and the
genomic variants interpretation workflow, mainly for the CRN Research Diagnostics stream,
according to the technical requirements exposed in WP13. This tracker will be based on RD3, initially
developed in Solve-RD, and should be user friendly for clinical researchers and be able to integrate
seamlessly with other resources (including the VP), through APIs (DCAT/RDF, Beacon, Café
Variome) and a common AAI, making it suitable for both a distributed and a federated approach. This
will be supported by the knowledge base, ontologies and data models coming from WP16 which will
support the analysis by providing the required based against to validate the results, and to feed the AI
models. In addition, this task will also provide a reference deployment of the ERDERA analysis
infrastructure, including helpdesk and support to onboard users from the CRN and funded projects.
The task will also contribute to data interoperability to other WPs in the Data Services Hub, in
particular WP14 for data sharing and ingestion. These reference deployments will have limited
computing and storage resources provided in-kind by the task contributors. However, they will be
designed to be easily scaled up using cloud technology based on CRN and funded project needs and
own available resources. The central reference deployments and partner installations will then have
the possibility to be connected into a federated analysis network.
In Year 1, developments covering the different data categories defined in the project and processed in
WP14 will be made available. First operational templates for the high-performance compute nodes and
federated analysis nodes will be released, revised, and integrated from previous projects, and deployed
on two clouds, ready for developers and users of T15.2 and T15.3. In addition, data service interfaces,
operations and support tools and processes will be implemented. In particular for genomics the RD-
Connect GPAP will be available from the beginning to conduct genome-phenome data analysis of data
ingested in W 1 . For other “omics” such as radiomics, proteomics, etc. and for clinical information
GenoMED4ALL distributed data platform will be available. Both approaches will converge in the first
months. Further developments will be necessary in Year 1, starting with the improvement of the
pyGPAP module to automate analyses for the CRN and keep track of the conducted analyses, which
will facilitate the provision of a reduced number of variants for interpretation to the Data Interpretation
Task Forces as well as the modules, besides other improvements to other omics and clinical info to
satisfy WP13 collected requirements. For the development of the data and analysis tracking system the
needs and specifications from the CRN streams will be collected. As example for genomics the system
will be based on the MOLGENIS/RD3 system developed in Solve-RD, with Café Variome discovery
interface, to be expanded for cover prioritised CRN needs with WP13-14, and a reference deployment
will be functional from the beginning albeit if not with all the functionalities, which will be developed
to make it more comprehensive, automatic and user-friendly. For example, it will be necessary to
automate the metadata uploads from the RD-Connect GPAP and the EGA. The development will be
done in sprints, with the involvement of the user in every step of the process.
T . . High performance compute pipeline and ‘cloud’ services (M -M12) TL: UMCG,CAD;
Contributor: CNAG. T15.2. aligns with GO:1-3; SO:1,2,4,5; OO:1-5.
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This task will provide services for large scale analysis, setting the standards and integrating and
maintaining best practice analysis pipelines that require ‘high performance computing’ (H C) such as
genomics, AI and radiomics, building on key resources from RD-Connect GPAP/CNAG,
MOLGENIS/UMCG VIP, PFMG2025, Clinical Genomics Sweden, and analysis services such as C-
PATH and Orphascape-phenotypic similarity variant prioritisation besides incorporating results from
funded projects such as GenoMed4ALL (see T15.3), and aligned with EOSC, EHDS and ESFRI
developments. The bulk of the work will be focused on integrating methods prioritized by CRN and
funded projects into portable and interoperable HPC analysis pipelines so these methods can be applied
at scale. Initially the focus will be on genome diagnostics research pipelines, but it is expected that
also computationally intensive pipelines will be needed for outcome and therapeutics research, such
as to include new AI approaches, semantic web data analysis to enable federated learning and/or
radiomics (see also T1 . ). In addition, the task will deliver a ‘H C’ in a box template (‘starter kit’)
that will be deployed into T15.1 as a basis for reuse of ERDERA provided services either as a service
or as open-source best practice. Finally, this task will provide the tools to link and operate a network
of analysis nodes to enable first distributed and later federated analysis between the ERDERA partners.
The start will be with key CRN genome diagnostics research centres as described in WP7 and then
scale up to support the federated network use cases from T15.3. The addition of new analysis nodes
will be supported (e.g. to serve JTC projects, using either institutes facilities or public/private cloud
servers). The expectation is to complement and make use of developments from already funded
projects such as GDI project (e.g. authorization via LS AAI), which provides Genomics data access
infrastructure components but offer no analysis capability.
In Year 1, the partners will collect the high-performance analysis needs from the CRN streams, and
in particular from T7.1 for the coordinated genomics analysis pipeline and deliver first pipeline releases
in time to process the first batches of CRN datasets. These needs will be prioritised together with the
CRN partners using agile/scrum methods, considering as one of the factors the availability of some
pipelines and the effort to develop new pipelines based on recently established best practices. The
expectation is to initially serve genomics diagnostics analysis requirements, but also to address some
large analysis needs for clinical and therapeutics research, such as machine learning. It is expected that
in some cases it will not be necessary to develop new pipelines but rather package existing pipelines
in a way that they can easily be installed locally for distributed and/or federated operations or be scaled
to cloud. When appropriate, the tools will be containerised using industry standards (e.g. Docker or
Singularity) and the pipelines will be coded using widely accepted workflow languages such as
Nextflow or CWL. Appropriate metadata standards will be used to record pipeline executions, to
interface with RD3 and ERDERA overarching data infrastructure, including publication to ELIXIR
tools catalogues to increase impact. In addition, the task will catalogue the storage and high-computing
capacity provided by partners to be used for CRN objectives, such as those in the CRN Research
Diagnostics Stream and the partners, aiming to contribute to the federated analysis approaches, such
as FPMG and UU.
T15.3. Federated analysis (M1-M12) TL: UPM, UU, CNAG; Contributor: UMCG,CAD, AIT,
IMAGINE, CHEO-RI*. T15.3. aligns with GO:1-3; SO:1,2,4,5; OO:1-5.
This task aims to upscale the analysis infrastructure in a federated fashion, starting from a distributed
deployment of T15.1 and T15.2 assets and then implementing the methods and infrastructure
components for federated analysis of clinical datasets (ST 15.3.1) and genome-phenome data (ST) to
realize intra-European and cross-continental analysis capability, starting with large datasets relevant
to CRN and JTC projects, aiming to a sustainable approach. In Year 1, T15.3 will, in collaboration
with T15.2, deliver an initial proposal for federated data processing and analysis. This proposal will
include the analysis of tools leveraged from previous funded projects and the suitability analysis, with
a balanced approach according to the WP13 requirements elicitation.
ST15.3.1. Federated analysis and federated learning infrastructure STL: UPM, UMCG;
Contributors: IMAGINE.
To address ELSI and GDPR issues, as well as to address scalability issues with centralized analysis,
this task will implement federated analysis protocols where, instead of sharing sensitive patient data,
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analyses are automatically distributed to data holders and only the training parameters and anonymous
summary results are shared. The focus will be on methods and protocols which can handle and deploy
the analysis in a distributed manner in an automatic parameterizable and adaptive manner according
to the clinical needs.
Two directions will help this result (starting from previous existing developments in past projects and
initiatives) which will be combined in the implementation: semantic federated analysis approaches
from EJP-RD, DataSHIELD networks perfect for tabular outcome data as used by several ERDERA
partners, which will be supported by the ontologies and knowledge bases in WP16, and
Genomed4ALL methods and protocols in particular suitable for multimodal categories of data such as
genomics/radiomics methods merged with clinical data, supported and/or fed by the WP16, WP14,
WP9 and WP10 diseases knowledge and data models and categories, besides others which can come
externally or in a later project stage. Initial focus may be on clinical outcome and therapeutics research
in the CRN because these data are relatively small but very sensitive, and therefore easier to acquire
local servers for within HCP (see T15.1), however expect to also scale up to AI and omics. Its
implementation will be closely aligned with EOSC and EHDS projects, in particular those on SPE –
Secure Processing Environment, TRE – Trusted Research Environments, GA4GH TES task execution
services, LS AAI, and GDI network, considering emerging AI needs.
In the initial draft proposal to be developed in Year 1, it should at least include established
federated frameworks for semantic web based federated analysis, R statistics-based analysis (e.g.
DataSHIELD), and for container based analysis (e.g. Genomed4ALL). In addition, components
that are to be shared between these federated analysis frameworks will be deduplicated and integrated,
such as service federated authorization and authentication (e.g. using Life Sciences AAI), standardized
methods for provisioning data access to federated protocols, central user interfaces for researchers (e.g.
including Jupyter notebooks and RStudio), and the first release of the ‘local bridgehead’ package (I.e.
the service that institutes can install if they want to make their data available for federated analysis).
A high priority will be to minimize operational complexity and costs for hospitals/institutes deploying
a federated data access node, e.g. by providing automated software updates. At the end of Year 1, a
first integrated SW architecture and demonstrator will be ready to be tested with CRN use cases before
moving to the full development. The federated analysis services will be able to cope with the data
kinds defined in the project and commented in T15.1
ST15.3.2 Technical support for international federated genome-phenome analysis for
research STL: UU, CNAG Contributors: CAD, CHEO-RI*
In line with the IRDiRC objectives, this task will provide technical support to enable international
federated analysis of genome-phenome data for research on RDs through several use cases and pilots.
The task aims to facilitate bringing together datasets submitted to the distributed infrastructure with
other datasets from EU countries, such as those from PFMG2025 and Sweden, in a federated manner.
As the EU and international landscape evolves, additional EU datasets and non-EU datasets from UK,
Canada and Australia may also participate in the activities. The task will leverage open standards and
technical developments from GA4GH, ELIXIR, MatchMaker Exchange, and 1+MG/GDI. In this
regard, the aim is to co-develop and evaluate solutions enabling one-sided and zero-sided genome-
phenome patient matchmaking across the international network, supporting the CRN Research
Diagnostic Stream, which will coordinate the analysis pipeline in T7.1. Initial focus will be on genome-
based diagnostics research. Expansion to other data types and the potential implementation of federated
learning will be evaluated with T15.3 during the first 3 years. Support on ethical and legal issues will
be coordinated with ERDERA partners involved in T1.5 Ethics compliance.
In Year 1, one or two use cases for the application of federated analysis will be defined together with
the CRN. The use cases will be included in the additional deliverable mentioned in T15.3 and will help
drive the work and developments in the following years. In Year 1, the task will also focus on the
scoping of available solutions and timeline from 1+MG/GDI, GA4GH, MatchMaker Exchange,
ELIXIR, and other relevant projects such as Genomed4All. The different options already available or
under development will be considered for the additional AWP1 deliverable indicated below.
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Additional deliverables (additional to those included in part B of the proposal)
Draft proposal for the application of federated data processing and analysis services in ERDERA. -
M12 (UPM, CNAG, UMCG).
Set of Activities 16 Start Date or Starting Event M1: September 2024
Number
Set of Activities Knowledge bases and ontologies for RD research
Title
Short name of INSERM- INSERM_Orphanet MRT Sonio UM AMU LUMC
participant & U974 (1) (1) (79) (102) (21) (37) (16)
(No)
Person Months 7.2 21.6 9 9 12 3 2
Short name of CNAG AUMC (20)
participant & (10)
(No)
Person Months 9 10
Start month M1 End month M12
State of the art behind this WP
Ontologies and knowledge bases are pivotal in medical practice and research, offering structured
frameworks to manage information, enhance decision-making, and improve data interoperability.
Several European projects demonstrate how ontologies can address the challenges of data
heterogeneity, interoperability, and knowledge representation in the healthcare domain, namely
Electronic Health Records for Clinical Research (EHR4CR), SemanticHealthNet, Translational
Research and Patient Safety in Europe (TRANSFoRm), Personalised Patient Information for Clinical
Decision Support (p-medicine) and the European Electronic Health Record Systems (EURECA)
project aiming at establishing a common framework for electronic health records across European
countries and presupposing adoption of common ontologies and classifications, like Human Phenotype
Ontology terms, ORPHA codes and others. Knowledgebases are organized and dynamic collections
of information about a particular subject where data from multiple sources are not only archived, but
also reviewed, distilled and manually annotated by experts
(https://doi.org/10.12688/f1000research.12989.2). These digital infrastructures are essential to the
effective functioning of scientific research and serve as a reference corpus of semantically interlinked
data to be re-used in combination with research data to generate new knowledge.
By showcasing the practical benefits of knowledge bases and ontologies in clinical practice and
research, they contribute to adopting standardised approaches that improve patient care, research
outcomes, and healthcare system efficiency across Europe. Recently, projects like ERICA provided a
curated Patient-Centred Outcomes Measures (PCOMs) repository for RD based on Orphadata Science
knowledge base, EJP RD produced curated RD workflows and networks based on system biology
approaches and Solve-RD provided tools for data exchange and analysis regarding phenotypical and
genotypical information, complemented with a knowledge base on available precision-medicine
treatments for RDs through the Treatabolome, and using standard ontologies like HPO and ORDO.
This is progress towards shorter diagnosis and treatment delays for patients while increasing trial-
readiness and cohort identification for emerging therapies. Healthcare and research for treatments are
pivotal concerns for patients, clinicians and researchers a nd need to be developed into a general
framework implementing universal data-sharing mechanisms.
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Such mechanisms depend on harmonisation of federated patient data and knowledge resources. While
many of such resources exist, their optimal use is hampered by fragmentation and lack of alignment
across resources. To expedite data and knowledge sharing, this WP focuses on establishing an
infrastructure through which knowledge resources can be harmonised, made available, and used e.g.
in the form of queries or knowledge graphs (RD networks). This will provide an important
enhancement to the virtual platform that has been developed in EJP-RD, and reusable, reference to be
integrated in ERDERA-funded projects (in JTCs/CTs and CRN case studies).
Methodology
The virtual platform is meant to be the access point for knowledge bases pertaining to RDs allowing
researchers and clinicians to explore diseases, molecular entities, treatment options as well as research
resources (cell lines, animals, cohorts) in an integrated fashion. This WP is aimed to create new and
align or improve existing knowledge bases and ontologies that have been identified as needed in
previous projects, regarding Patient-Reported and Patient-Centred Outcomes, antenatal phenotypes,
Treatabolome, RD maps, and ontologies, in collaboration with funded projects and CRNs. We also
support their use and application by the clinical research community by providing concrete
applications. The WP will closely interact with the mentoring and consultancy service that integrates
all ERDERA components and is designed to scale with the number of projects funded through JTC
and CRN projects. Concretely, funded research projects in WP3 and clinical trials WP4 are expected
to use PCOM/PROM and antenatal phenotypes knowledge base and ontologies to annotate data and
investigate and prioritise molecular targets of RD using RD networks. In an incremental approach,
WSs drive Data Services Hub (DSH) activities, DSH output of increasing maturity will be made
available for testing and use in the WSs, iterating towards the federated approach with fully established
DSH infrastructure. This will be executed in collaboration with WP6-8 and will be sustained with
concrete applications to go from one or more genetic variants to RD molecular networks, existing
treatments, and better knowledge about less common genetic variants in the same pathway can help
discovery of causative gene(s). WP9 and 10 drive identification of PCOM/PROM in the PCOMs
repository, data annotation with PCOM/PROM, RD functional impacts and antenatal phenotypes as
well as linked data/RD network applications and ontologies for concrete research questions. We
support research on innovative therapies in WP11 and 12 by providing data annotation, molecular
pathways, and networks to investigate molecular causes of how treatment works and compare with
existing treatments (Treatabolome). To enable co-creation and ensure the service needs are met a
concrete task for Year 1, AWP is to set up communication infrastructure with other workstreams
and plan a workshop around design and content of the RD map services with CRN and funded
project partners (JTC and EJP RD). In order to further fulfil the needs of CRNs and funded projects,
this WP will also contribute to the education and training activities (WP20) and support the Expertise
Services Hub (WP17-19) with tutorials, workshop organization for training on knowledge bases and
concrete applications or hackathons to solve concrete questions.
Concretely, this WP contributes to fulfilling the following needs: 1) for the virtual platform to connect
existing data, it provides a means to query data represented using the variety of terminologies and
ontologies geared towards healthcare and the RD domain, by providing semantically rich mappings
across those terminologies and 2) for initiatives to collect new or broader data sets (including CRNs
WP9, 11 and 12 and funded projects) it provides services to establish data sets that are harmonised
upfront, maximising their reusability and their linkage to other resources, and queryability in the virtual
platform.
Objectives
Specific objectives for Year 1 are:
• Establish workflow and communications with other WPs/WSs for cooperation and co-
creation
• Collaborate on defining first research question for RD maps towards Year 3 proof-of-concept
• Start specifying the requirements for use of the specified knowledge bases
• Assess interoperability needs of knowledge bases to be connected to RD maps
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• Start work on alignment of incorporated knowledge resources
Description of Programmed Activities
Year 1 activities will focus on getting the individual tasks started, and establishing collaboration and
communication within ERDERA, both across WSs and within the Data Services Hub.
T16.1. Evolving a repository of FAIR Patient-Centred Outcome Measures (PCOMs)/ Patient-
Reported Outcome Measures (PROMs) (M1-M12) TL: INSERM_Orphanet, MRT; Contributor:
AUMC. T16.1. aligns with GO:3; SO:1-3; OO:1.
This task will leverage on one of the major outcomes of the ERICA WP3, providing a curated PCOMs
repository for RD. The RD PCOMs repository is currently accessible from the ERICA webpage and
its content is hosted in a larger PCOMs database (PROQOLID™) and maintained by MAPI Research
Trust and Orphanet. In Year 1, we will onboard the current repository in the Virtual Platform (WP13)
and work towards a hosting solution that is sustainable beyond the duration of the ERICA project.
WP16.1 will ensure continuous implementation of new PCOMs identified in open consultation for
external input, in literature reviews performed by Orphanet and MAPI Research Trust and in other
WPs like PCOMs developed in the frame of T10.1. The development of 2 search functionalities will
be performed:1/identification of PCOMs for diseases within a functional cluster (sharing the same
functional impact profile) and 2/identification of PCOMs matching functional concepts to be assessed,
i.e., in a clinical trial. For the first search functionality, in ERICA, the Orphanet knowledge base on
functional consequences of RD (see T16.5) was used to create clusters of RD based on their curated
functional consequences profiles to identify suitable PCOMs for validation in other diseases than those
for which they were originally developed, to promote their repurposing. In Year 1, quality control of
the RD functional clusters will be organized with ERNs and patient organisations in a systematic way.
For the second search functionality, in the ERICA project, an algorithm using Natural Language
Programming (NLP) has been developed to automatically allocate ICF code to items of PCOMs listed
in the repository. ICF-coded PCOMs could be matched with ICF-coded RDs, annotated by Orphanet.
In Year 1, we will extract PCOMs items and the quality of ICF coding generated by NLP will be
assessed.
T16.2. Antenatal echographic and pathologic RD phenotypes knowledge base and ontology (M1-
M12) TL: INSERM_Orphanet, Sonio. T16.2. aligns with GO:1; SO:2; OO:1.
Whereas RD postnatal phenotypes are well described and made re-usable as ontologies (ORDO, HPO
and the ontological module HOOM, see T16.5), there is no reusable ontology for antenatal phenotypic
abnormalities that have the potential to facilitate antenatal echographic suspicion and diagnosis of a
RD to trigger decision-making, including genetic testing based on diagnostic suspicion, pregnancy
continuation, in utero treatment, post-natal early care and genetic counselling. The aim of this task is
to leverage on the knowledge being generated by the software and AI for prenatal diagnosis of RDs
and congenital malformations developed by Sonio, based on academic foetal medicine research, to
produce an ontology of phenotypic annotations corresponding to detectable RD antenatal
abnormalities, by proposing extensions to the HPO (or developing a stand-alone ontology if needed).
This ontology and annotations will increase the Orphanet content, making it freely available as part of
rphanet’s rphadata Science17, which is a Global Core BioData Resource. An ontological version of
these antenatal phenotypic anomalies of RD will be developed based on the current HPO-ORDO
ontological module (HOOM). The curation will be done in collaboration with ERNs and foetal
medicine experts contributing to this task. This reference ontology will offer a computable reference
dataset to be reused to foster RD diagnosis by contributing to, amongst other, variant prioritization
phenotypic-based algorithms. In Year 1, a controlled vocabulary for echographic signs will be
established, based on the content already retrieved by Sonio, and a repository of annotations of RD
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using these terms will be initiated, by organising the curation cycle with RD experts in CRNs and
foetal medicine external experts. Alignment with HOOM and other knowledge resources will be
investigated.
T16.3. Treatabolome (M1-M12) TL: CNAG, INSERM_U974. T16.3. aligns with GO:2; SO:1-3;
OO:2.
The Treatabolome is an interdisciplinary collaboration between disease experts and computational
experts designed to make expert information about existing RD treatments more readily accessible.
The Treatabolome DB already contains 3623 entries from 745 publications and is publicly accessible
through programmatic interfaces and a web portal, and its expansion through this work plan will focus
on improving both its disease coverage and its interoperability and linkage with other systems. With
guidance from an expert committee to ensure maintenance of the evidence base for all data entered,
we will upgrade the current system, develop a systematic method and schedule for updating existing
datasets to maintain currency of information, develop an online interface for crowdsourcing and expert
curation of treatment-variant and treatment-gene assertions, integrate additional FAIR functionality
into the Treatabolome DB including new ontologies (e.g. MAxO), include deep phenotyping and
increase phenotype granularity by improved clinical data and HPO and ORDO linkage, and link known
targets within the Treatabolome with molecular pathways and RD networks for mechanistic
explanation of how treatment works. This task aims to further expand and develop the Treatabolome
infrastructure to increase the number of RDs covered and improve the data capture and curation
infrastructure to deal with larger datasets and additional methods of data capture (including
crowdsourcing) while retaining its evidence-based reliability.
In Year 1, a Treatabolome steering committee (SC) will be established to provide expert clinical and
technical input to guide the Treatabolome expansion. This SC will include at least 5 members with
clinical and technical expertise (e.g. ontologies, genetic analysis, software development, etc), including
at least 1 member from each of the task co-lead partners. The SC will work with task partners to
develop an implementation plan covering updating of existing systematic literature reviews (SLRs)
and commissioning of new SLRs, recommending additional data to be captured and ontologies to be
used to improve FAIR functionality, evaluating existing NLP tools (in collaboration with WP14) to
automate literature extraction of gene-disease associations, including variant level information as well
as mapping out the technical and expertise requirements for establishment of a crowdsourcing and
curation platform for data capture and review. To ensure comprehensive representation of RD expertise
and optimize the approach's usefulness for end users, this implementation plan will be developed in
close collaboration with ERN representatives.
T16.4. RD maps (M1-M12) TL: UM, LUMC; Contributor: AMU. T16.4. aligns with GO:1-2; SO:1,2;
OO:2.
RD knowledge networks will start with molecular pathways capturing the molecular interactions of
RD genes and their associated downstream effects leading to the distinct phenotypes. These molecular
networks are now connected to the newly created knowledge bases linking molecular causes (from the
WikiPathways RDF triple store and its RD community pathways) to phenotypic symptoms –
PROM/PCOM and Treatabolome. Multi-dimensional networks and knowledge graphs will include
potential links to chemical compounds and their interaction networks (as started in EJP RD) for
identification and prioritisation of potential treatments. In Year 1, we will focus on different tasks to
get the project started: 1. Establishing communication and information exchange with CRNs and
eventually already funded projects (e.g. from previous EJP RD or JTC) to 2. Development of a first
research question and draft for the first service demonstrator. 3. Assessment of the CRNs and funded
projects needs in RD maps. We need to get feedback and information on what information would be
most interesting to be provided in a RD map and which knowledge bases are most useful to get this
information. We intend to organise a workshop together with selected partners from CRN and funded
projects to answer these questions. 4. Assessment of the interoperability status of the knowledge bases
prioritised for network integration and prospective for the new knowledge bases of Task 1, 2 and 3.
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T16.5. Improving, creating, and expanding RD Ontologies and semantic models (M1-M12) TL:
AUMC, INSERM_Orphanet; Contributor: LUMC, UM. T16.5. aligns with GO:1; SO:1,2,5; OO:2.
In alignment with T16.1, WP13 and the CRNs the requirements and core resources for the repository
will be identified and the repository will be populated with these resources, which will be provided
with explicit semantics if these are not provided natively. The repository will be light-weight graph-
based infrastructure that contains ontologies as foundational layer for unique identification and
specification of elements in other resources, information models and schemas based on those
ontologies, and knowledge sources as selected or created in other tasks. As much as possible, the
resources are interlinked so that any concepts that are specified in more than one resource, whether
exactly or at different levels of granularity, are identified and properly related, preferably using the
Simple Standard for Sharing Ontological Mappings (SSSOM). To maximize sustainability of the
repository, including augmentation of the set of resources and keeping the repository up to date with
the most recent versions of resources, light-weight procedures will be developed, in alignment with
T14.2, which aims to accelerate data ingestion by using similar techniques.
In Year 1, T16.5. will make an inventory of the required knowledge resources and assess any needs
for alignment and harmonization. We will establish collaborations with organizations responsible for
maintenance and updating of resources, to facilitate collaborative amendments of those systems when
needed. We will lay out the requirements for an infrastructure in which the knowledge resources can
be linked and harmonized and represented using semantic-web representations. This includes
requirements for dealing with, possibly frequent, updates of those resources. In order to extend
Orphanet Rare Disease Ontology, during Year 1 a first draft of Orphanet Functional Consequences
Ontology (provisionally called OFCO) will be proposed based on the existing Orphanet Functioning
Thesaurus, derived and adapted from the International Classification of Functioning, Disability and
Health – Children and Youth (ICF-CY, WHO 2007) and on the Orphanet functional impacts of RD
knowledge base, which will be continuously expanded in collaboration with T16.1, WP10 and RD
experts and patient representatives. The collaboration with T10.1. will result in a functional evaluation
core-set for selected RD. In addition, HOOM (HPO-ORDO Ontological Module) will be enriched, and
the association model development improved in line with those utilized for the “ FC ” module.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 17 Start Date or Starting M1: September 2024
Number Event
Set of Activities Initiation of Mentoring process and feasibility study for consultancy
Title services
Short name of EATRIS (22) FGB (23) VHIR (15)
participant & (No)
Person Months 11 3 6
Start month M1 End month M12
State of the art behind this WP
Academic basic and translational research form the seedbed of innovation, by generating a great deal
of the new discoveries in biomedical research, ranging from insights into the natural history of
diseases and cogent (patient-relevant) outcome measures, to disease pathways and molecular targets
of interest for therapeutic development. As such, academic researchers play a crucial role in the bi-
directional flow of knowledge from bench to bedside and back, eventually culminating in the
(industrial) development of novel diagnostics and therapeutics that serve high medical needs. A
condition sine qua non for the smooth functioning of the eco-system is that the knowledge generated
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by academic scientists must be amenable to further uptake and development by other actors in the
research and innovation value chain. By extension it is important that those academic scientists are
aware of the development steps later in the value chain, and the minimum requirements for a concept,
project, and dataset to continue to further development. Many areas that are not familiar territory for
academics will come into play, such as manufacturing and scale-up, regulatory compliance
(products), intellectual property, reimbursement. These domain expertise’s are difficult to access for
academics, yet interaction with them in the early phases of development are essential for later success.
With the above in mind, the mentoring program was created to provide researchers with a mix of
competences in drug/diagnostic development, regulatory science, methodological, pre-clinical and
clinical development, and intellectual property needed to support successful translational research, to
secure follow-on funding and find partners for the development of new treatments and diagnostics
for RDs. To move a research project across the pipeline that leads to market authorization and
reimbursement, and remove the well-known difficulties, a multitude of different actions and different
sets of competencies are necessary. This WP supports the RDs community to translate high quality
research more effectively into high impact interventions for the RD patient community, by creating
a bridge between basic research and medical innovation through easy access to expertise essential for
successful product development.
Methodology
The translational research process works on effective development of knowledge from one system to
another or from the discovery level to the application level. This covers the full translation of
biological discovery, preclinical validation in experimental models to human data, and backward for
bringing new solutions for disease challenges, identifying current and future unmet needs and
possible solutions to overcome these. The goal of translational medicine is to help patients with the
more rapid development of new solutions at the diagnostic and therapy level, facilitating new health
care interventions for unmet clinical needs. In this context, massive evidence suggests that the
process, long and complex by nature, requires strategic planning when a biological discovery is seen
as an opportunity for developing a new health intervention. Projects and initiatives located at the
initial steps of this value chain often suffer from lack of understanding of the complexities of efficient
translation. As this is, by definition, a multidisciplinary process where science is not the only driver,
the lack of strategic perspective in areas such as regulatory science, HTA assessment, data
management strategy, Innovation management which result in an increasing difficult journey.
This WP will establish strong links to WP3 and WP4 and all projects funded by ERDERA will be
assigned a mentor champion who will identify, if required, additional mentors. Mentoring support
will be provided by organizing a meeting (or meetings) with the project team where the development
plan will be discussed, and mentor will guide the team on the expected and predicted translational
bottlenecks. Also, in this meeting specific gaps which may require additional expertise will be
identified. FGB will perform a feasibility study that at the end of Year 3 will report on the potential
need for the partnership to establish a workflow for providing additional support based on a
consultancy model of expertise support services. This feasibility study will be based on both user
experience and mentoring feedback and will also define a potential business model for the long-term
sustainability of the service. EATRIS will facilitate FGB contacts with the experts of the EATRIS
database and getting their feedback which will be key for the development of a feasibility study on
additional consultancy services. This process will be implemented during the initial funding cycle
(M1-M36).
Objectives
This activity aims at providing researchers from projects funded by ERDERA with a central
Mentoring support service intended to guarantee best chances of success in project execution and
ERDERA research activities, as well as subsequent exploitability of the results.
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The activities for the AWP Year 1 of WP are to design the workflows and initiate the process
for providing mentoring service and assessing the potential inclusion of consultancy-based
services, activities based on the specific objectives of WP17:
• Continue and further expand the successful EJP RD mentoring program accompanying WP3
and WP4 funded projects starting at the design phase and if required also during project
development. Mentoring teams will provide early support for the design of the development
plans followed by a light-touch follow-up during project development.
• Initiating a feasibility study of a potential workflow for additional expert support based on a
consultancy service-based model. This study will include a business model analysis for long-
term sustainability of this potential service provision. The assessment of this study at the end
of Year 3 will be determinant for including this additional workflow during the second
funding cycle.
Description of Programmed Activities
T17.1. Execution of the Mentoring Program (M1-M12) TL: EATRIS; Contributors: FGB, VHIR.
T17.1. aligns with GO:1,2; SO:2,4; OO:2.
In Year 1, mentoring activities will be dedicated to the definition and organisation of the program,
to the design of the workflow, to the release of a Standard Operation Procedure (SOP), to the
identification of the mentors and to the development of training material for mentors including the
mentoring handbook. Moreover, the first round of the mentoring program will be run for the 2025
calls (M8-12). EATRIS, as leader of this task, will assign a mentor per each project who will be
responsible for the execution of the mentoring process. The mentor champion might identify, if
requires, additional mentors. Mentoring support will be provided in a live meeting with the project
team where the development plan will be discussed, and mentor will guide the team on the expected
and predicted translational bottlenecks. Also, in this meeting specific gaps which may require
additional expertise will be identified. During the mentoring activities, the mentor will oversee
assessing achievement of milestones and providing advice on further steps to maximise the project’s
potential of success and further development towards the clinic.
ST17.1.1. Operational workflows STL: EATRIS Contributors: FGB, VHIR
The characteristics, workflows and timelines of the mentoring process will be discussed and a specific
SOP illustrating the workflow of the program will be created. This workflow will include a
Confidential Disclosure Agreement (CDA) template that will be signed by mentors participating in
the program. This workflow will be revised, assessed, and validated by the ERDERA coordination
team and by other relevant people involved in the activities (e.g., WP leaders, Call Secretariat
Coordinators, etc.) at M5. Inputs and comments will be addressed and implemented in the final
version of the workflows. At M6, following the finalisation of the SOP and the workflows, a
handbook for mentors will be prepared and disseminated across the experts registered in the database.
This handbook will include all necessary materials for performing the mentoring activities within the
ERDERA, including the templates for reporting individual projects as well as the overall assessment
for the mentoring process. At M6 a cycle of webinars and/or video materials and protocols will be
produced and made available to discuss with the mentors the processes and timelines that will be
executed in 2024.
In preparation for the mentoring process, a specific webinar will be organized with the mentors
involved in a particular call to have a direct interaction, solve doubts, and prepare the interaction with
the project teams. The activities to be developed during Year 1 include (a) the development of the
SOPs for the mentoring program and the description of the workflows during M1-M4, (ii) the
preparation of different templates that will be used for the task during M1-M4, (iii) meetings with
the coordination team to align on the development of the activities (M4 and M7), (iii) the
establishment of the workflows for the mentoring process during M6, (iv) the preparation and
dissemination of the mentoring handbook describing the whole workflow during M6-M10, (v)
specific webinars for the mentors to train them into the mentoring process during M8 and the first
round of the mentoring program which it is foreseen at M8-M12.
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ST17.1.2. Database of multi-disciplinary experts STL: EATRIS Contributors: FGB, VHIR
During the first months of the project, EATRIS will update the mentoring experts’ database that
has been operating to support the mentoring program of EJP RD. Additional experts will be recruited
after discussion with contributing partners. New mentors can be appointed during the course of the
partnership according to the project needs. Mentors consenting to participate will provide the updated
Curriculum Vitae and their contact details. Mentoring experts will cover the expertise on the entire
research and innovation value chain of RD, including, molecular mechanisms, preclinical research
workflows, animal and non-animal models, preclinical technologies, clinical trials, regulatory
expertise, innovation management, IP and others. The composition of the mentoring panel will be
tailor-made to the needs on the project and suggested by the coordination of the WP based on the
previous experience on EJP RD. Elements such as confidentiality and conflict of interest, geographic
distribution, gender balance, age balance, and others will be considered during the creation of the
database and during the whole execution of the Mentoring program. During the first 3 months
potential mentors will be identified and recruited and the database will be updated by the end of M6.
ST17.1.3. Maintaining the Innovation Management Toolbox of EJP RD STL: EATRIS, VHIR
The Innovation Management Toolbox (IMT) provides RD researchers guided access to over 450
translational medicine resources on RDs. T17.1.3. will future proof the toolbox by i) ensuring the
IMT stays up to date and streamlining the curation process ii) maximising user experience for mentors
and mentees and iii) reaching new users. During the AWP Year 1, EATRIS will maintain and update
the tools contained in this resource. During M2-M8 the tools contained in the IMT will be updated
and at M10 an internal workshop will be organized to discuss the current capacities of the tool and
strategies for its improvement.
T17.2. Consultancy service (M1-M12) TL: FGB, VHIR ; Contributor: EATRIS. T17.2. aligns with
GO:1,2; SO:4; OO:2.
In Year 1, consultancy activities will be dedicated to the definition of the service, to the design of
the workflow, to the identification of the experts and to the release of the fee scheme to the
researchers. This will be aimed at exploring the need and the interest of providing additional expert
support in the framework of a consultancy-based support service. Direct feedback from the mentoring
service, as well as surveys and interviews with RD research teams will be the basis for a feasibility
study that will assess the interest of creating a consultancy-based service as an additional workflow
in ERDERA activities. This study will analyse the priorities, workflows, and financial sustainability
of these potential service provision approaches.
ST17.2.1. Feasibility study to provide consultancy service
A study to assess the feasibility of a model to provide consultancy services will start in Year 1.
Such a study will analyse the needs of from the scientific community involved in the RD domain for
consultancy support through surveys/interviews to/with the relevant stakeholders, including those
from other WPs and groups (EAG, WP18, WP19 and the Data Services Hub). Then, in Year 1 the
following activities will be undertaken:
• The needs analysis will be performed through surveys and interviews with RD research
teams.
• The types and contents of consultancy services to be offered will be identified.
• The dentification and mapping of expert(s) according to the expertise and availability will
start, also using the database created within T17.1 and liaising with the dedicated WPs and
groups.
ST17.2.2. Pilot conduct
For the second funding cycle, the feasibility of the consultancy model built in this subtask will be
tested on some selected projects. This subtask will prepare dissemination materials for informing the
community of the initiative.
This activity is not planned in Year 1.
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Additional deliverables (additional to those included in part B of the proposal)
None
Set of 18 Start Date or Starting Event M1: September 2024
Activities
Number
Set of Regulatory support service
Activities
Title
Short name FGB (23) EATRIS Pfizer* AZ* IABS-EU RJF Miltenyi*
of (22) (161) (150) (134) (164)* (160)
participant
& (No)
Person 20 14 1 2 4.2 3.1 2.4
Months
Short UCB* (167) ROCHE* HIPRA* (157) LAB HIPRA* FDB* (154)
name of (165) (158)
participant
& (No)
Person 1 1 2.5 1.3 2.4
Months
Start month M1 End month M12
*Associated partners providing in-kind contribution
State of the art behind this WP
ERDERA foresees research activities aimed at supporting and developing promising RD research tools
and therapies, such as ATMPs. These tools should be implemented smoothly in a more efficient,
patient needs-targeted and less costly development process. Key to achieving these objectives is the
compliance with the applicable regulatory provisions, to get greater certainty in their developmental
paths, by defining a clear research & development plan, and ensuring the methodologies applied are
accepted by regulators.
To this aim, regulatory activities should accompany any research from the beginning to its completion
and should keep informed by the updates that are continuously released by the regulatory
authorities. This should be done by reviewing what is currently available, identifying gaps and by
interacting with regulatory agencies and other stakeholders, such as pharmacopoeia. Guidance on
addressing regulatory requirements properly should also consider the variability of the regulatory
frameworks across countries. Such a variability carries different expectations around the level of
control of the safety, quality, and efficacy of these products between the various health authorities. As
a result, the need to refer to a harmonized set of rules that represents a major need of the field and as
such, a major priority of ERDERA. The development of new therapies for RDs including promising
ATMPs is complex, time consuming, expensive, and comes with numerous uncertainties due to the
relative immaturity of the technologies employed. Their promise to make a meaningful difference to
the treatment of RDs is therefore hampered and seen as commercially unattractive. Central to
addressing these issues is the need for consensus on common standards that facilitate more efficient
development and the design of more effective, cost-effective clinical studies that are compliant with
regulatory requirements.
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To facilitate more efficient development of therapies for RD, there is a need for more specific and
extensive guidance, quality standards (e.g., monographs) and physical measurement standards
covering manufacturing, nonclinical and clinical development. This requires close interaction with
regulatory experts, technology developers, clinicians, and patients to define what standardized
processes are critical to create a more streamlined, transparent, and cost-effective RD therapy
development process for the benefit of patients.
Methodology
The regulatory support service of the ERDERA will be provided by a group of regulatory experts from
industry, academia, not-for-profit organisations, patient representatives, and regulators from the public
sector, through the immediate establishment of a dedicated regulatory support group to fulfil the
regulatory needs of the alliance. Central to this regulatory service will be the establishment of an
effective monitoring, assessment, and support process that the ERDERA regulatory support group will
implement to provide timely support where and when needed. This will be done in close collaboration
with the EAG, Mentoring & Consultancy, CRNs, Data and Accelerator Hubs to ensure all regulatory
needs are prioritized and supported. The necessary links will be established accordingly. During Year
1, WP18 will ensure that CRN, Data and Accelerator Hub WSs will be helped with sources, guidance,
recommendations, and webinars. The Regulatory Support Group will participate in CRN and
Accelerator Hub meetings. The group will periodically liaise with the EAG to ensure alignment on the
ethical and regulatory strategy and to jointly address requests for support on non-clinical and clinical
issues being both ethical and regulatory. The Group will be also in charge of regularly sharing updates
of regulatory documents relevant to the EU through the project communication channels.
Objectives
This WP aims to provide beneficiaries with a multi-specialistic regulatory support service, ensuring
that consortium-derived tools, methods, data, and sources are in line with up-to-date requirements for
regulatory filings including qualification. Specific objectives for Year 1 are:
• To create a one-stop point for regulatory scientific questions related to preclinical and clinical
research in the form of a dedicated project Regulatory Support Group;
• To start developing new regulatory support tools outlined in T18.1 and T18.2 to facilitate more
effective translation of new therapies to the clinic;
• To start operational activities to provide advice on opportunities, strategy, and timings to
engage with regulatory agencies at the appropriate time during the project;
• To start operational activities to facilitate the applications for regulatory procedures to the
European Medicines Agency (EMA) or other regulatory bodies, e.g. National Competent
Authorities, including the qualification of novel methodologies and standards to streamline
new therapeutic development for RD;
• To provide the necessary guidance required to support efficient, regulatory-compliant first in
man clinical trials.
Regulatory support, both for clinical and non-clinical research, will be also delivered to researchers
from funded projects through consultancy services (T17.2).
Description of Programmed Activities
A Regulatory Support Group will be created within the first 3 months of the project. This expert group
will consist of representatives from industry partners, academia, not-for profit organizations, patient
representatives, and regulators from the public sector with extensive knowledge of regulatory science
around devices and medicines development for RDs including ATMPs. The regulatory support group
will provide CRNs, Data and Accelerator Hubs with the sources, guidance, recommendations, and
webinars they need, to facilitate the advancement of their objectives through regulatory compliant
processes. The Regulatory Support Group (RSG) will periodically liaise with the EAG to ensure
alignment on the ethical and regulatory strategy and to jointly address requests for support on non-
clinical and clinical issues including both ethical and regulatory support for clinical and non-clinical
research. This support will also be delivered to researchers from funded projects through consultancy
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services (T17.2). Through these activities, this WP will serve to ensure a more efficient, patient needs-
targeted and less costly development process for smooth clinical implementation of these must have
products for RD.
To achieve the objectives of the WP, the necessary links will need to be established with Mentoring &
Consultancy, Data Hub, EAG, and Accelerator Hub within the first months of the projects. To achieve
this, an appropriate monitor, assess and support process that the RSG will implement throughout the
project will be the main priority of the WP within the first months of the project. This will involve the
identification of the right dedicated experts being assigned on case-by-case basis to the different
demands of the different projects that require regulatory support. This can include internal demands
such as the prioritization/qualification process for newly validated technologies in WP21, to projects
demanding clinical support around a CTA application coming in through the consultancy task in
WP17. In Year 1, priority will be given to the establishment of procedures to regularly share updates
of relevant regulatory documents for the EU through the project communication channels.
T18.1. Regulatory support to preclinical research (M1-M12) TL: EATRIS, IABS-EU, Miltenyi*;
Contributors: Pfizer*, RJF*, AZ*, UCB*, HIPRA*, LAB HIPRA*, ROCHE*, FDB*. T18.1. aligns with
GO:2; SO:1,2,4,5; OO:2-5.
Following the establishment of the ERDERA Regulatory Support Group, our first action will be to
implement a process to ensure alliance-derived tools, methods, data, and guidelines are in line with
regulatory recommendations for regulatory filings. This will include an identification and prioritization
process within the regulatory support group to facilitate the qualification of new methodologies
developed within WP21 through the creation of appropriate regulatory teams to facilitate different
projects. A first assessment will also be carried out in Year 1 of current Pharmacopeia chapters and
monographs related specifically to ATMPs for RDs for relevance and need for improvement and to
begin the process of categorizing updates where appropriate. In parallel with this, a first review and
round of relevant updates of the EATRIS Regulatory Database (free of charge) with the latest resources
for ATMP development for RDs will be implemented. This database will contain information about
the regulatory requirements, guidelines, and legislations from 27 EU countries (as well as Norway,
Iceland, Liechtenstein, Switzerland, Turkey, and Israel) regarding drug and medical device
development derived from the application of European legislation. A dedicated team lead by IABS
will start the process to identify the need for new platform standards e.g., analytical method calibrators
and written quality standards for raw materials, analytical reagents, and analytical methods will be
developed and first priorities agreed on. Based on priority and suitability of any existing standards, the
feasibility of realizing these will be determined, and a strategy developed to identify and publish within
the project lifespan.
T18.2. Regulatory support to clinical research (M1-M12) TL: FGB; AZ*; Contributors: TEDDY.
T18.2. aligns with GO:2; SO:1,2,4,5; OO:2-5.
The Regulatory Support Group will advise on regulatory requirements with clinical research and
regulatory procedures. This support will encompass different types of clinical studies (clinical studies
with medicines – phase I-IV trials and observational - and non-pharmacological clinical studies
collecting prospective/retrospective data, including registries, RWD and clinical studies with medical
devices) and regulatory procedures (Orphan Designation, Paediatric Investigation Plan, Scientific
Advice/Protocol Assistance including the qualification procedures for innovative methodologies e.g.,
biomarkers, endpoints, registries, patient-reported outcomes, clinical outcome assessments, tools for
data measurement/management etc). The research specificities will be addressed: paediatric
provisions across all paediatric age groups in case of paediatric studies (informed assent, ad hoc
endpoints and procedures, ability to collect samples from children, measures for managing and
storing biological samples and associated data, need for paediatric formulations, etc), provisions
for genetic tests (specific aims and endpoints, informed consent and recruitment procedures), clinical
studies with ATMPs according to Reg. 1394/2007/EC.
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To this aim, the Regulatory Support Group with specific expertise in clinical research will start
focusing on the topics that need to be covered. It will set and prioritise liaison with the CRNs, to
identify the areas where specific regulatory support will be needed. The necessary links will be also
established with other project groups and WPs:
• The EAG, to ensure regulatory- and ethically compliant research and data collection and the
proper alignment on the issues being both ethical and regulatory e.g. Informed consent/assent,
processing of data in line with GDPR and related guidelines, handling biosamples,
implementation of provisions from GCP, Regulation (EU) 536/2914 in case of CTs with
medicines, and from the EC Recommendations in case of paediatric studies. This effort will
be also reflected in updating the consortium on applicable provisions.
• The Data Hub, to ensure that data and knowledge produced in projects meet the standards of
the regulatory process.
• The Consultancy service, to suggest regulatory experts to be involved in consultancy requests.
• The Methodological Support WP, to discuss the possibility to undertake the Qualification
Procedure for the innovative methodologies. This will also consider the need from CRNs to
implement regulatory-compliant innovative methodologies in their clinical research;
This will be preparatory to set up the sources, guidance, recommendations and webinars on the use of
data and samples collected during both routine care and clinical studies for regulatory purposes, e.g.
dossiers for marketing authorisation applications of medicines and medical devices, clinical studies.
Other aspects will be addressed based on the beneficiaries' needs. To this aim, the FGB Regulatory
Database will be updated. At the end of the Year 1, the workshop with regulatory experts on regulatory
challenges in the RD domain will be held and the first outputs of the group will be shared with the
consortium.
ST18.2.1. Clinical studies, data, and samples handling
The Regulatory Support Group will deal with the regulatory aspects of clinical studies, prospective
and retrospective processing of health and genetic data and biosamples handling. In Year 1, the group
will set up the necessary actions to allow the proper support to:
• Advice on the proper regulatory definition and classification of clinical studies and
consequently on the documents to be prepared for their application to the competent bodies,
i.e. Regulatory authorities and ethics committees.
• Perform the regulatory review of clinical study protocols (T10.2) and related documents,
addressing research specificities (stated above).
• Advice on the regulatory-compliant use of samples previously collected in the context of
routine care, as well as new of samples allowing their use for regulatory purposes.
• Allow a regulatory-sounded processing of data in line with the European general data
protection regulation (GDPR) reg. (eu) 2016/679 and its compliance in third countries.
This will accompany the CRN from the beginning of the project.
ST18.2.2. Engagement with regulatory agencies
The Regulatory Support Group will facilitate engagement with regulatory agencies, including the
European Medicines Agency (EMA), to receive the proper support/advice. In order to help identifying
the most suitable regulatory procedures where the research activities need to be included, preparatory
activities will start in Year 1 of the project to facilitate the liaison with the relevant regulatory agency
and support their preparation and application. Whenever relevant, other regulatory
agencies/authorities will be addressed as well, e.g. as the EU national competent authorities, Food and
Drug Administration (FDA) and Japanese Ministry of Health, Labour and Welfare (MHLW) and
Pharmaceuticals and Medical Devices Agency (PMDA).
Additional deliverables (additional to those included in part B of the proposal)
None
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Set of Activities 19 Start Date or Starting M1: September 2024
Number Event
Set of Activities Methodological support
Title
Short name of APHP UHASSE UKA INSERM PLUS UU SFU (99)
participant & (24) LT (25) (114) (1) (141) (121)
(No)
Person Months 12 12 4 4 4 4 1.8
Start month M1 End month M12
State of the art behind this WP
Over the recent decade, the beneficial role of the use of adequate design and analysis methodology for
empirical studies (CTs, RWD, registries), tailored to the needs of RDs has become apparent, through
projects as IDeAl, ASTERIX, InSPiRe, the EJP RD demonstration and innovation projects, and
beyond. The EJP RD capitalized indeed on these previous EU projects and initiated a double process
to accelerate the implementation and validation of adapted methodologies for clinical trials in RD:
• Accelerating the demonstration of the usefulness and feasibility of the small sample
methodologies developed previously for use in RDs.
• Initiating innovation projects for key unmet needs in clinical studies in RDs. This rich
background enabled the building of a group of excellence in methodologies for clinical studies
(CS) encompassing a large spectrum of expertise and highly informed about the specific needs
of patients, researchers, and clinicians to achieve successful CS.
Methodology
This WP places itself in the tradition outlined in the State-of-the-Art. It will build on the
methodological collaborative tradition of IDeAL, ASTERIX, InSPiRe, and the EJP RD
achievements.
Major challenges are the use of appropriate methodology in the context of RDs, where the information
available per subject may be large, but the number of subjects is typically small. The complex nature
of the data takes the following form: data tend to be multivariate, potentially with outcomes of different
data types, measures longitudinally, subject to other hierarchies in the data (e.g., coming from meta-
analysis or multi-stage sampling designs), and are generally prone to incompleteness. Against this
background, methodology needs to be applied that is statistically adequate (i.e., as precise and unbiased
as possible), as well as computationally feasible. Further, it is imperative to ensure proper integration
of CT and RWD, such as epidemiological studies and registry data. Apart from likelihood and Bayesian
methodology, we will consider randomization-based methods, as well as methods based on generalized
pairwise comparisons.
A challenge is the efficient transfer to the clinical field, i.e., to the CRNs and other health care centres
throughout the European Union where clinical trials and other empirical studies are conducted. To this
aim, liaison with the Regulatory Support Group will be established to discuss the possibility to
undertake the EMA Qualification Procedures for the innovative methodologies developed within
WP19.
Objectives
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This WP will contribute to the knowledge transfer of (bio)statistical, data scientific, epidemiological,
AI, and machine learning expertise with the CRNs and other partners. The emphasis is on clinical
trials, epidemiological studies, registries, RWD, and combinations thereof. This rests on State-of-the-
Art methodology and its implementation. If needed, when the clinical trial topics have been
consolidated, methodology will be further refined and updated. We will contribute to the consultancy
services related with research methodology, as mentioned in WP17. A strong interaction will be
foreseen with the WP Data Readiness, the WP RWD, the WP Finding and Accessing the Data
Ecosystem, the WP Data Readiness Services, the WP Data Sharing and Analysis Services and the
Regulatory Support Group.
The objectives for Year 1 are:
• To initiate the methodological knowledge transfer, whereby at least one concrete (clinical)
case will be identified.
• A review will be started regarding methods available for the use of RWD, useful to the
context of RDs. The partners to work on this objective will be identified. This will lead to a
draft report, to be expanded, improved, and fine-tuned in subsequent years.
• A review will be started regarding methodology for RDs design and analysis, when data are
hierarchical, incomplete, and/or of different data types. The implementation of these
methods in a user-friendly software library will be initiated. This will lead to a draft report,
to be expanded, improved, and fine-tuned in subsequent years.
• A review on the existing methodology of a non-parametric, pharmacometrics, and
randomization-based nature will be initiated. This will lead to a draft report, to be expanded,
improved, and fine-tuned in subsequent years.
Description of Programmed Activities
T19.1. Methodological knowledge transfer towards local clinical trial teams (M1-M12) TL:
APHP, INSERM_U1138, SFU; Contributors: UHASSELT, UKA. T19.1. aligns with GO:2; SO:1,2,4,5;
OO:2,3.
Only few experts are proposing and applying innovative CT designs tailored to small sample sizes, as
is common in RDs. Often, clinical trial units in the field do not dispose of adequate knowledge or
experts to plan clinical trials using designs specifically developed in the context of RDs (tailored to
patient’s heterogeneity, small sample setting, non-standard endpoints, etc.). This is why this W ’s
team will propose knowledge transfer in terms of (1) proposing suitable designs for RD clinical
questions, (2) providing help in the protocol writing, (3) discussing computational code or statistical
package, (4) providing support during the conduct of the trial and in the trial analysis, and (5)
participating to the scientific manuscript writing. The idea is not to replace the work of the local teams
but to transfer the expert’s knowledge, tools, and confidence as a learning process. Local teams should
be able to use the first trial as an opportunity to develop new skills to be used in future studies. Nabbout,
Molenberghs, and Hilgers have a long tradition of collaboration, in the RD context, and will closely
work with Zohar and Heussen to identify the precise knowledge that is needed and jointly organize the
transfer to the local teams. Specific tasks for Year 1: The methodological knowledge transfer will be
initiated. At least one concrete case will be selected, the methodological needs identified, and the
transfer process initiated.
T19.2. Novel methodology for the use of all available knowledge, including RWD (M1-M12) TL:
INSERM_1138, UHASSELT, APHP; Contributors: PLUS. T19.2. aligns with GO:2; SO:1,2,4,5;
OO:2-5.
To better characterize and understand patient’s disease trajectories and treatments, in RDs, one would
need to use multiple data sources coming from patients (i.e., Real World Data, registries, clinical trial
data, etc.) and preclinical trial findings on the disease pathway and mechanism. Patient reported
outcomes are evidently part of the data biotope. Incorporating this knowledge into the design of a
clinical trial or RWE is not straightforward and it requires specific methodological considerations. This
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W ’s team will propose statistical and machine learning approaches to maximize the use of existing
knowledge. We will propose multi-modal approaches, allowing modelling and analysing multi-source
(preclinical and clinical) and multidimensional (omics, etc.) data. This will be in support of the Data
Hub and every WP involved with the design, conduct, and analysis of clinical trials. INSERM and
UHasselt partners have partially complementary bases of knowledge and expertise. T19.2 leaders will
identify partners within their organizations, as well as within organizations of the other partners in this
WP, who are most appropriate for a given study. If necessary, they will identify which additional work
needs to be done to expand the methodological toolbox further. The benefit of this WP will be richer,
more informative clinical trials in RD, benefiting the clinical trialists, the funders, and evidently and
foremost the patients. Specific tasks for Year 1: A review of methods for the use of RWD, useful for
the context of RDs, will be initiated; partners to work on this problem will be identified. A concrete
use case will be identified, to initiate the tailoring of methodology to this task.
T19.3. Data analysis methodology when data are multivariate, hierarchical, incomplete, and of
differing data types (M1-M12) TL: UHASSELT, PLUS, APHP; Contributors: UU. T19.3. aligns with
GO:1,2; SO:1,4,5; OO:2-5.
Analysis of CTs in RD ideally makes use of all data available. This includes the simultaneous analysis
of data of differing types (time to event, continuous, count, binary, categorical, etc.). CT data will be
supplemented with data from other sources. Each of these outcomes with its specific modelling tools,
but also its challenges. These challenges exacerbate when data are collected longitudinally. At the
same time, longitudinal data offer a rich but often undervalued data source. For example, a single value
of a marker may be of little or no use, but its evolution over time may be extremely indicative. It is
more and more common for multiple outcomes to be measured longitudinally. The joint analysis of
multivariate longitudinal data requires specific statistical knowledge, both in terms of modelling and
data analysis on the one hand, as well as in computational terms on the other. Indeed, when multiple
sequences are modelled, classical fitting methods, such as maximum likelihood and Bayesian
estimation may break down. This is true in general, but especially in small samples, common in RD,
because then there is a different balance between the sample size and the complexity of the data
structure. The combined knowledge of the modelers (who developed, among other tools, pseudo-
likelihood, or computer-intensive tools), experts in generalized pairwise comparisons, and
randomization-based inference is of great value and will allow a unique set of solutions that are highly
relevant for the rare-diseases community. Their transfer is essential, potentially upon fine-tuning to the
need of the RD data stream (CT, Real World Data, registry, or a combination thereof). Regarding the
adequate handling of missing data, the primary analysis strategy should be chosen carefully and
conventionally so that the assumption of Missingness at Random applies. Then, sensitivity analyses
should be done to investigate the stability of the results. This has set in motion an entirely new strand
of currently ongoing research, ranging from new modelling strategies for incomplete data (e.g., based
on multiple imputation), over sensitivity analysis, to computational strategies. A very elaborate
machinery exists to evaluate surrogate endpoints in CTs. The use of a surrogate, or multiple surrogates,
in lieu of the usual clinical endpoint can increase information and time. Whereas in common diseases
it allows to reduce sample size, in the RD context it can ensure that the maximally available sample
size provides enough information to test a clinically meaningful hypothesis. The partners have
interacted closely in developing and making available methodology through IDeAl and EJP RD; they
are thoroughly familiar with each other’s expertise and will bring it together to optimally advise on
methodology or, should it be needed, to expand the toolbox further. The benefit of this methodological
WP is to the clinical trialist (design, conduct, analysis), the funder, and the patient. Specific tasks for
Year 1: A review of the methods associated with this task will be undertaken and written such that it
is useful to methodologists, trialists, clinicians, and other stakeholders. Preparations will be made to
(re-)implemented these methods in a user-friendly software library. Development of novel
methodology, building on existing one, is foreseen for AWY2 and later.
T19.4. Non-parametric, pharmacometrics and randomization-based methodology (M1-M12) TL:
UKA, UU, APHP; Contributors: PLUS, UHASSELT. T19.4. aligns with GO:2; SO:1,2,4,5; OO:2,3.
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Methods such as generalized pairwise comparisons have been developed for multiple outcomes, either
when a hierarchy in the outcomes is present, or when this is not the case. Their place in the context of
RDs should be carefully considered. On the one hand, they are computationally convenient, on the
other, their power properties need to be examined for a given trial, such as considered within a CRN.
Simulation based evaluation, tailored to the needs of a specific research question, in the context of a
specific RD, should be undertaken. Pharmacometric models based on nonlinear mixed effects analysis
of longitudinal data are particularly suitable for RD, given their ability of making use of all relevant
data in a structure that allows the use of prior information. Specific tasks for Year 1: The existing
methodology, on which this task builds, will be reviewed, and brought together in an accessible text.
An overview will be made of available software. The gaps and extensions needed will be identified.
Filling these gaps and preparing these extensions is foreseen for Year 2 and later.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 20 Start Date or Starting Event M1: September 2024
Number
Set of Activities Education and Training on RD Research
Title
Short name of EURORDIS VULSK WDO DDF GA UK * TEDDY c4c-s
participant & (26) (27) (120) (51) (168) (105) (122)
(No)
Person Months 21.4 14 3 2 1.2 2 3.4
Short name of IMAGINE ASU-FC CNAG FFRD SRUMC UT (8) UTARTU
participant & (70) (39) (10) (29) (11) (9)
(No)
Person Months 1 7 6.9 2 2.5 2 0.5
Short name of TUM (12) Fraunhofer EATRIS ECRIN UHASSEL ISS (75)
participant & UK* (167) (22) (57) T (25)
(No)
Person Months 0.5 1 3 1.5 1 3
Short name of UMCG LUMC AUMC UTWEN SFU (99) UCSC ACU
Participant & (19) (16) (20) TE (17) (112) (35)
(No)
Person Months 0.5 0.5 0.5 0.5 6,9 5.2 1
Short name of UCD (111) SU (142) RSU (96) IBG (68) ISCIII (72)
participant &
(No)
Person Months 1 0.5 0.5 4.2 1
Start month M1 End month M12
*Associated partners providing in-kind contribution
State of the art behind this WP
Education and training on RD research are among the highest priorities to empower the entire RD
research community to tackle RD-associated challenges and to bring the real value to PLWRD. In
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recent years, many educational resources have been developed incl. not only the comprehensive EJP
RD training programme but also ERICA resources, the ERN Knowledge Academy, etc. Those
resources need further dissemination and awareness raising to be adopted by the national systems
and/or various communities of stakeholders. This will be fostered through ERDERA WP2. However,
severe gaps remain in the overall landscape of RD research education and training and novel needs
constantly arise due to unprecedented progress in the field. These needs must be constantly monitored,
identified and fulfilled across many axes (including career stages, multistakeholder community needs,
regional needs, research and innovation developments). Covering the entire RD research ecosystem,
ERDERA has exceptional opportunities to identify and meet these needs, high added value brought by
European and international collaboration and measures for long-term sustainability of developed
resources. In the overall RD research community, ERDERA may act as a direct provider, major
contributor and collaborator in education and training activities and ensure advisory role for policy/
decision making.
Methodology
The main streams underlying the organization of education and training contents have been identified
according to the expertise level and cover the entire RD research multistakeholder community
according to the principle of pyramid. Training has been thematically organized to empower
multistakeholder communities in ERDERA activities as a priority. As such, trainings will empower:
• RD diagnostic research and RD clinical research (for participation in WS CRNs, WS RD
funding);
• Knowledge on research methodologies (WS Expertise services Hub, WS RD Funding);
• Translation of research and CTs (WS CRNs and WS Acceleration Hub);
• Data research (WS Data services Hub, WS RD funding).
The overall RD education and training landscape encompass many education and training providers
(including universities, medical and nursing schools and their associations, professional organizations,
ERNs, patient organizations, research institutions and infrastructures as ESFRI). All together, they
implement the four main aims of education and training in RDs and rare cancers 1) to ensure efficient
timely diagnosis; 2) to ensure efficient, integrated, coordinated, multidisciplinary specific and
symptomatic care; 3) to empower patients; and 4) to foster research. Sharing responsibilities among
all education and training providers in the most efficient and effective way is of utmost importance as
well as complementing without duplicating the efforts. Having this concept in mind, the ERDERA
comprehensive and coherent education and training programme was set up to:
• Provide education and training on RD research (as opposed to medical education and training
that should be provided by the medical schools, universities, teaching hospitals and ERNs);
• Target mostly general overarching needs in RD research (as opposed to trainings on individual
RD or groups of RD, although teaching on the latter may be encompassed as case studies and
examples);
• Target mostly highly-specialized expert-level and intermediary level of expertise, in one
common language, English (as opposed to the basic, general teaching on RD concepts that has
to be provided to all medical and life sciences students, clinicians and other stakeholder groups
at the base of the educational pyramid, most frequently – through the formal educational
programmes and in national languages, i.e., mostly beyond the scopes of ERDERA).
Strategic alignment for this responsibility sharing in RD education and training will be ensured through
the activities of ST20.2 with a constant monitoring of the state-of-the-art of RD education and training
and liaison with internal (all ERDERA workstreams) and external stakeholders (in collaboration with
WP25). Moreover, as a global and European initiative, ERDERA has exceptional opportunities that
would be impossible to achieve by other means and a very high added value of collaboration,
including:
• Timely identification and fulfilment of training needs, gaps and arising novel needs through
the tight interaction with all ERDERA workstreams and embedment in the overall RD research
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ecosystem. These are of especially high consideration for the highly innovative areas and
trends where educational programmes and resources do not exist and for the highly specialized
topics where educators and learners are as rare as RDs themselves, hence, there is a limited
scope for the development of national educational programmes and international collaboration
is a prerequisite;
• Onboarding of the most knowledgeable and experienced education and training providers,
including those based on the European collaboration (as ESFRI), to ensure not only high
quality of education and training but also sustainability of the resources that will be developed
in ERDERA;
• A set of measures for a wide dissemination of high-quality trainings including: i) engagement
of international multistakeholder faculties for the development of education and training that
sets the stage for sharing of developed resources; ii) wide geographical coverage of trainings
through, e.g., course rotation; iii) gradual and scaled approach to the trainings according to the
learner’s level of expertise from more basic training (that involves large numbers of learners)
to advanced, expert-level training (that is more demanding in terms of resources and involves
smaller numbers of selected, highly-motivated learners); iv) adequate age- and career-stage
appropriate methodology of education and training to the targeted audiences and specific/local
needs; v) development of open, shareable educational resources and on-line trainings for a
wide outreach; vi) application of train-the-trainer principle in collaboration with WS
Inter(National) Capacity Alignment that enables identification and fulfilment of individual
national needs and wide dissemination of the benefits of ERDERA education and training
programme towards national systems (explained in more detail below); vii) leveraging on a
wide RD research ecosystem of ERDERA for the awareness-raising of newly developed and
existing education and training resources in collaboration with WP2;
• Application of specific measures to increase participation of underserved groups and learners
from underrepresented countries (as fellowships for training courses) that, together with the
specific measures applied in other ERDERA workstreams (WS Research Funding and WS
Inter(national) Capacity Alignment) create a comprehensive, coherent programme for
inclusion. Strategic and practical sustainability will be achieved through the development of
trainings by established organizations and networks, standardized adaptation of training
contents according to the identified needs, dissemination through the train-the-trainer principle
to the national systems and/or various communities of stakeholders.
ERDERA is in the exceptional position of empowering one of the usually underserved
multistakeholder groups: patients and patient representatives. The main aim of the education stream
for patients and researchers (WP20.1) is to build capacities of patients and young researchers and to
foster their participation and collaboration in RD research. To achieve the highest possible
effectiveness, a blended (on-line and face-to-face training courses) and scalable (from beginners to
advanced level) programme is proposed. Promotion of the establishment of university educational
programmes for RD researchers and international collaboration of universities in these activities with
the final aim of having an interuniversity European diploma will be implemented in WP20.4. A gradual
approach is foreseen: first, compilation of a core-set educational modules from different universities,
next – short-term pilot programme, then scaling-up to the full curriculum of 60 ECTS. A continuous
evaluation and improvement process will be applied. Preliminary selection of educational directions
for a coherent, comprehensive ERDERA education and training programme was based on the
preliminary investigation of existing resources, investigational work done in the EJPRD and a tight
interaction with all ERDERA workstreams with the final aim to empower the learners for participation
in all ERDERA activities (including CRN, Acceleration, Data Services hubs and RD funding) and in
the RD research activities beyond ERDERA (mostly at national level, through the application of the
train-the-trainer principle).
Various age-, career-stage- and topic-appropriate pedagogical tools will be used with the aim of
identifying the most effective and efficient ways to deliver education and training contents (F2F or on-
line trainings, expert-level horizon-scanning webinars or hands-on and problem-based, blended
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teaching, play to learn, etc.). ERDERA education and training providers will comprise a coherent
community and will share best practices (e.g., on the adequate pedagogical methods, procedures for
the selection of highly motivated learners or effective awareness-raising ways) and resources (e.g.,
forms for registration, evaluation of applications, feedback collection forms, programme forms,
practical approaches including play to learn method, etc.).
Objectives
The main objective of WP20 is to develop a comprehensive programme of education and training on
RD research that serves the needs of the RD community across career stages, research, and innovation
pipeline and multistakeholder communities.
Specific objectives for Year 1 are to:
• Empower first cohorts of patient representatives (including paediatric patients) to enable their
full-scale involvement into RD research for patient-centricity (T20.1).
• Support the RD-focused career development of young researchers (T20.1) through mutual
learning with patient representatives.
• Build the foundations of a European University Diploma on RD research (T20.4).
• Identify and reassess training needs to plan the next round of trainings for the following years
through the engagement of top-level experts and tight interaction with all ERDERA
workstreams (T20.2).
• Develop a first set of online and face-to-face trainings for the RD community following 5 main
training tracks: diagnostic research, clinical research, research methodologies, CTs and
management, data research. This would enable the RD community to adequately participate
to ERDERA activities (Funding schemes, CRNs, Acceleration and Data Services Hubs) and
beyond (T20.3).
• Team up with WP2, WP23, WP24 to enable a wide dissemination of education and training to
be developed in Year 1 into national systems through the train-the-trainer principle (T20.2
and T20.3 in conjunction with WP2)
T . . atients and young researchers’ trainings (M -M12) TL: EURORDIS; Contributors: WDO,
DDF, GA UK, c4c-S, TEDDY, IMAGINE, LUMC. T20.1. aligns with GO:3; SO:3,4; OO:1,3,4.
ST20.1.1. Blended and scalable training programme for patients and researchers across the
whole RD research pipeline (M1-M12) STL: EURORDIS; Contributors: LUMC, WDO, DDF, GA
UK*. The overall objective of this ST is to address one key component of ERDERA to improve
research and innovation and to enhance the uptake of research results by building the capacity of the
patients and young researchers. The proposed training approach and programme will be developed in
recognition of patients’ and young researchers’ needs ( hD, ost-Docs) for support to be educated on
the fundamentals of research in addition to drug development to express their needs, expectations and
more importantly aspirations in the most knowledgeable and meaningful way. Training topics will be
aligned with ERDERA needs and with the CRN needs as the engagement of expert patients in the
CRNs will be of utmost importance. The training methodology approach will foster a blended approach
(online and face-to-face). It will be a scalable approach of training patients and young researchers
through a 3-step programme: beginner level, intermediate level, advanced level. A strong emphasis
will be put on mutual learning among patients and researchers as well as on soft skills that could be
further disseminated amongst patient organisations and research labs and organisations. The specific
objectives of this task are to equip patients, patient representatives, and young researchers with:
• An understanding of the clinical research, therapeutic development, and regulatory processes
for medicinal products.
• The knowledge and skills required for patients to become legitimate collaborators in RD
research (from early-stage research to later stages) hence enabling the implementation of the
ERDERA strategy supported by the education of patients as well as mutual learning among
patients and researchers.
• The skills and knowledge to be empowered as equal, valued, and efficient partners in research
and scientific projects as well as all ERDERA activities involving patients.
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The training programme will be organized in 3 levels. In Year 1, all 3 steps will kick start and be held
once each.
Level 1: Beginner level. This “onboarding research” and basic training will be open to anyone, with
no restriction of numbers to be trained (goal: to train at least 2-3000 people a year): patients, patient
representatives, researchers. Connection with WP2-Communication & dissemination, WP23-NMGs
promotion and national alignment and WP24-Fostering engagement of underrepresented countries will
be ensured so that the EURORDIS Open Academy (OA) online resources can be further disseminated
and more widely used. Over the 3 past years, circa 30% of the audience of the OA was from outside
EU, with learners coming from more than 150 countries. For this beginner level, with learners on-
boarding the RD research ecosystem, no fixed cohort would be formed. The access to the content will
be free and on-demand. Learners would be able to sign-up at any time and complete at their own pace.
Topics will cover medicines research and development, introduction to the RD research landscape,
introduction to EU institutions, advocacy, RD diagnosis, introduction to genetics and genomics,
registries, patient partnerships in research, etc. Trainees must complete all basic courses in this
category to be eligible to move to the intermediate level.
Level 2: Specialised pathways. Enrolled trainees of the specialized pathways must have completed
all basic level training beforehand to qualify. The objective is to train up to 100 people per year. It will
be a single application process for patients and young researchers where they select the different
pathways to follow (maximum of 35 trainees per pathway). Participants will be able to apply for more
than one pathway. A blended format lasting between 6 to 9 months with staggered start of 3/4
pathways: 1) medicines research and development, 2) ethics, 3) diagnostics, 4) building patient
partnerships in RD research, etc. A 3 day-training workshop will be hosted at the end of the training,
with practical exercises and topics on cross-cutting issues. Partnerships are foreseen with European
research institutes and universities to organise and increase the mutual learning between researchers
and patient representatives.
Level 3: Advanced level. Completing an intermediate level training (see above) will provide the
eligibility to participate in an advanced level training. Specialized topics will be covered such as
PROMs, new orphan drug regulation, data and digital latest innovation, etc. All topics and training
needs will be continuously reassessed based on the needs fed back by the other ERDERA tracks, in
particular the CRNs so that the knowledge delivered can directly impact the course of the other tracks.
The format will essentially be online, with interactive webinars and no in-person sessions. Signposting
of additional courses delivered in T20.3 and from other relevant initiatives and programmes will also
be done on a systematic basis. Having completed the advanced level programme will give access to a
personalised follow-up or a mentoring programme to an approximate number of 20 patients/patient
representatives a year. They will be selected following a specific application process.
ST20.1.2. Training workshops for paediatric patients (M1-M12) STL: TEDDY; Contributors: c4c-
S, IMAGINE, EURORDIS.
This ST will consist in developing a yearly age-tailored training for young people (12-18 years old)
focusing on the following areas: (1) rare and genetic diseases specificities; ( ) patients’ and children
rights; (3) clinical and translational research challenges for paediatric patients and relevance of their
role (ethical and legal issues); ( ) patients’ engagement in CTs, participation in CTs and other studies
(such as innovative, PROMs, PREMs, etc.); the consent/assent issues, innovative therapies in the
context of paediatric RDs, paediatric lay summaries, etc); and (5) Orphan Medicinal Products
availability and access for paediatric patients on the EU market, pharmacovigilance and off-label use
in paediatric setting. In Year 1, a first face-to-face paediatric patient expert training will be organised
by TEDDY as a 2-to-3-day training course, targeting up to 15-20 young RD patients (12-18 years old).
atients’ organisations and Y AGs across Europe will participate in the process by supporting the
dissemination of the training opportunity. An online pre-test will be administered to the selected
participants to check their knowledge level and interest in healthcare and research fields. This
information will allow them to adapt the training plan and activities according to the specific training
needs, expectations, and interests of the trainees. In Yar 1 of the programme, the training course will
be organised by TEDDY with the support of the other partners involved alongside the support of other
networks (e.g., iCAN (International Children's Advisory Network). The training course will be
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performed in English. All contents will be made available to the NMGs to be translated and adapted
into national languages (in collaboration with WP23). Training activities will be delivered by
paediatricians, investigators, psychologists, representatives of patients’ association, Y AGs
facilitators, legal, ethical, and regulatory experts, etc. Ad-hoc children tailored training materials and
tools, to be delivered during the in-person course, will be prepared by TEDDY. Child-friendly
information and educational materials, webinars, video, mobile apps and serious game, podcasts in
age-appropriate lay language will be developed with participatory methodology including trained
children. The material will be further published on the ERDERA website. During the course, practical
activities (including play-to-learn sessions) and formal lessons will be organised to facilitate the
understanding of the topics discussed. At the end of each meeting, short questionnaires will be
distributed to assess the trainees’ understanding. The training courses will allow paediatric patients
with RDs to get the right skills to be involved in research and make a difference in the experimental
procedures. They can have an impact in improving communication with the target population and thus
supporting planning and executing research as well as brainstorming methods for dissemination of
findings. The pool of trained young patients will be invited to participate in future ERDERA activities
when relevant. Collaborations will also be foreseen with Foundations in Europe (e.g., Barretstown
Children’s Charity) to search for synergies and best practices benchmarking.
T20.2. Identification and fulfilment of training needs (M1-M12) TL: VULSK, ASU-FC;
Contributors: EURORDIS, FFRD, UCSC. T20.2. aligns with GO:3; SO:4; OO:2,3,4.
The main objective of this task is to ensure a continuous process for identifying education and training
needs and to create a strong basis for the introduction of new trainings.
ST20.2.1. Continuous identification of training needs STL: VULSK, ASU-FC; Contributors:
EURORDIS, FFRD, UCSC.
Training needs will be identified on a regular basis, and during Year 1 using different sources:
interaction with all ERDERA workstreams (mostly through the dedicated meetings during the annual
General Assembly and other ERDERA meetings/events); interaction with national systems (through
NMGs, in collaboration with WP23); interaction with the global RD ecosystem (in collaboration with
WP25. Variable methodologies will be used for the collection of needs, including surveys, interviews,
satellite workshops in the ERDERA meetings. These needs will be triaged for implementation
according to 1) the main target audience and its career-level and 2) maturity of the educational program
(i.e., definition of clear educational goals, contents, established audiences and educational
methodologies). When educational needs can be met with the help of existing, already developed
ERDERA resources, adaptation of the trainings will be discussed with training developers and
implemented, if feasible. Other trainings with established educational programmes and a higher level
of maturity may also be implemented in the relevant tasks (T20.1 or T20.3) depending on the main
target audiences and topics. For existing trainings beyond ERDERA, awareness-raising and
dissemination activities will be activated by FFRD in collaboration with WP2 (incl. Inventory of
existing educational resources and infographics). A high demand for ERN-related trainings have been
expressed in the preliminary discussions in the ERDERA building phase; for these, the ERN Academy
platform will be the key: in collaboration with WP2, an inventory index structure across all ERNs to
allow a “one stop shop” access to educational materials developed by the ERNs in the past as well as
upcoming ones will be created. For novel, arising needs without any existing educational programs
and resources, expert-level horizon-scanning trainings will be organized, from Year 2, mainly in the
form of webinars or short workshops and implemented in ST20.2.2. National training needs will be
further implemented through the train-the-trainer principle (see ST). After Year 3, evaluation of the
state-of-the-art of WP20 RD research education and training in ERDERA and beyond will be
accomplished to inform further developments in the field.
ST20.2.2. Implementation of novel horizon-scanning trainings (starts M13).
ST20.2.3. Implementation of train-the-trainer principle (starts M13).
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T20.3. RD research trainings for multistakeholder communities (M1-M12) TL: CNAG, VULSK;
Contributors: UT, SRUMC, UTARTU, TUM, EATRIS, GA UK*, Fraunhofer UK, ECRIN, SFU,
UHASSELT, ISS, LUMC, UMCG, AUMC, WDO, DDF, UTWENTE. T20.3. aligns with GO:1,2,3;
SO:2,3,4,5; OO:2,3,4.
The main objective of this task is to equip the multistakeholder RD research community (researchers,
clinicians, patients, etc.) with the knowledge and skills needed for effective participation in ERDERA
activities and RD research beyond ERDERA, especially in national systems towards a federated
approach. Therefore, STs are arranged to reflect targeted trainings and contributing to the objectives
of the main ERDERA WSs. For the maximum effectiveness, a graded approach of scalable trainings
will be implemented: more beginner-level, mostly online trainings will be accomplished in Year 1
(after these trainings, some of the webinar-like materials will be put onto the ERDERA website to
ensure wide outreach and a possibility of usage on a constant basis, while the full online courses will
be run according to the foreseen structure of trainings and the needs – once per year or 2-3 years – to
ensure “live” online interaction and possibility to raise questions). In the subsequent years, training
courses for the more advanced levels will be prepared and implemented either face-to-face or online
according to the foreseen structure of training courses. To increase the motivation of course
participants and to ensure a certain level of experience, participants in advanced courses will be obliged
or highly recommended to complete beginner-level courses first. To ensure the maximum flexibility
and adaptation of training courses to the ERDERA and external RD research needs, the budget for
training in this specific task has been allocated only for the three first years, allowing to re-analyse the
needs and to re-distribute the funding to training providers during the second period based on needs
and performance of the training courses.
ST20.3.1. Trainings to empower RD diagnostic research STL: CNAG; Contributors: SRUMC, UT,
UTARTU, TUM.
The objective of these trainings is to equip CRN diagnostic research participants with the full range of
knowledge to select patients for RD diagnostic research, collect and submit phenotypic and genomic
data, to use appropriate ontologies and ensure FAIRification of data, to analyse and interpret genomic
data for re-analysis, to use innovative omics for RD diagnostic research, etc. The main target audience
includes researchers, clinicians, laboratory technicians, data analysts – participants of ERDERA CRNs,
RD Diagnostic Research. However, multistakeholder composition and interaction, including patient
representatives, is indispensable to ensure effective delivery of training. Trainings in ST20.3.1 will be
provided in collaboration with the CRN Diagnostic Research Workstream (WP6-8) in conjunction with
the Data Services Hub (WP14-15) to facilitate a seamless integration of the CRN Diagnostic
framework into national services towards a federated approach. Methodologies to be used include
preparatory on-line lectures, webinars and modules supported by face-to-face hands-on and problem-
based learning. Several thematic groupings of trainings are currently foreseen (trainings on genome
re-analysis; innovative RD diagnostic technologies; solutions for undiagnosed) with possibility of
scaling according to the level of expertise along the duration of ERDERA from more basic to advanced
levels. In Year 1, preparatory online lectures, webinars, and modules will be prepared for two thematic
training groups: a) Management of genomic and clinical data for re-analysis and b) Introduction to
innovative omics. These preparatory online trainings will be repeated once per year to once per three
years to ensure possibilities for “live” interaction and raising of questions. From Year 2, advanced in-
person courses for hands-on training for selected participants will be prepared. It is expected to train
0 to 100 trainees per “live” online session and up to 00 trainees/year through permanent access to
the webinars on the ERDERA website. e
ST20.3.2. Trainings to empower RD clinical research (M1-M12) STL: EATRIS; Contributors: GA
UK*.
The main target audience for ST20.3.2 includes researchers, clinicians, laboratory technicians, biobank
staff – participants of ERDERA CRNs, RD Clinical Research. However, multistakeholder composition
and interaction, including patient representatives, is indispensable to ensure effective delivery of
trainings. During preliminary discussions with ERDERA WS leaders and after evaluation of the
maturity of the educational programme, training on cell and gene therapies has been identified as a
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priority for the Year 1. Other educational programmes may be developed in subsequent years as
described in T20.2.
• Training “Cell & gene therapy development” TL: EATRIS; Contributor: GA UK. The
training addresses the 4 key challenges and bottlenecks of the ATMP development cycle that
prevent new therapies from reaching patients: Scientific & Clinical, Manufacturing,
Regulatory, and HTA & Reimbursement. The main audience will be professionals involved in
ATMP development from academic research, SMEs, clinics, and regulatory agencies. The
methodology will foster a blended teaching approach with preparatory e-learning for more
beginner-level participants in Year 1 with advanced face-to-face course (including lectures
and hands-on assignment) subsequently. The expected number of trainees is up to 500
participants per year for preparatory e-learning and 30 participants per advanced course from
Year 2. Conditions for train-the-trainer principle would be: EATRIS is committed to
maximizing the impact and reach of its training. The e-learning will be available for free and
can be used as preparatory e-learning by other trainers. National training providers are also
welcome to attend the face-to-face course as observers to support the roll-out of the course
(e.g., by offering nationally in the local language). r
ST20.3.3. Trainings to empower knowledge on research methodologies STL: VULSK-
Contributors: Fraunhofer UK*.
The main target audience for the trainings of ST20.3.3 includes researchers and RD multistakeholder
community, potential participants of ERDERA funding schemes, from young researchers to
experienced principal investigators, and users of the WS Expertise Services Hub. During preliminary
discussions with ERDERA WS leaders and after evaluation of the maturity of the educational
programme, training on stem cells has been identified as a priority for Year 1. Other educational
programmes will be developed in subsequent years as described in T20.2.
• Training “Best practice for successful iPSC research” TL: Fraunhofer UK. The objective of
the training is to provide an iPSC training program which covers the entire process flow from
consent, legal, quality control, nomenclature and sustainability of cells and data, ensuring that
iPSC researchers generating new iPSC line cohorts avoid common challenges and are able to
widely share cells and data, increasing reproducibility and access to critical, and often hard to
come by RD research tools. The target audience of the training includes all clinical and
fundamental researchers using iPSCs, from beginner-level to senior investigators, aiming to
inform both the individuals performing the work, and those planning and guiding it. Biobank
managers would also be encouraged to attend, as they may hold biospecimen that could be
used for iPSC generation or may be in the process of accepting iPSC lines for banking. The
methodology starting from Year 1, beginner-level training will be developed and provided
online. National training courses, according to the selection of countries (to be performed in
collaboration with WP23) will be adapted and provided face-to-face in subsequent years. The
expected number of trainees is around 0 participants for “live” online sessions of beginner-
level training, with up to 100-300 participants/year for continuous accessible webinars on
ERDERA website. Conditions for train-the-trainer principle would be Candidates for the
‘Train the trainers’ program would have to possess some previous experience in iPSCs in some
respect, plus they should be familiar with the content of the basic training. For national training
courses, we propose a separate module focusing on how they deal with iPSC (ELSI) in their
own countries, in practice. This should be face-to-face to enable discussion of specific and/or
national issues and ways to overcome them and will inform development of a final,
overarching best practice document taking into consideration issues raised. This document can
be shared across ERDERA to enable knowledge spreading. o
ST20.3.4. Trainings to empower acceleration of research and RD clinical trial methodologies and
management STL: VULSK; Contributors: ECRIN, SFU, UHASSELT.
The main target audience for the trainings of ST20.3.4 includes researchers, clinicians, biostatisticians
and multistakeholder community, potential participants of CTs, incl. WS CRNs, and users of WS
Acceleration Hub. During preliminary discussions with ERDERA WS leaders and after evaluation of
the maturity of the proposed educational programme, training on clinical studies has been identified
as a priority for the Year 1. Other programmes may be developed in subsequent years as described
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in T20.2. Two main groupings of trainings will be implemented: i) Evidence synthesis for clinical
studies (biostatistical knowledge) that will be fully implemented in Year 2 and ii) Management of
multinational CTs with Introductory online more beginner-level courses available in Year 1 and
upscaling/ adaptation for national trainings developed subsequently.
• Training “Evidence synthesis for clinical studies” TL: SFU; Contributors: UHASSELT. The
objective of the training is to provide biostatistical knowledge about study design and related
analysis. The main audience consists of medical doctors, nurses, biologists/biotechnologists.
The methodology will follow a blended learning approach with a Moodle self-learning
platform with face-to-face workshops as well as tandem supervisors. A continuous self-
learning preparatory phase with monthly online supervision will be followed by a face-to-face
workshop. The expected number of trainees is up to 300 participants per year for the
preparatory online webinars and up to 20 participants (split in 5 groups) for the advanced face-
to-face course.
• Training "Management of multinational trials” TL: ECRIN; Contributors: ECRIN core
team and ECRIN EuCos. This course will be a solution-oriented training course to address the
most common barriers in the European landscape. Among the obstacles are the variety of
national implementations of the European Regulation on clinical and RD trials that govern
European clinical research as well as ethical considerations. The early identification of roles
and responsibilities of all stakeholders, in both industry and academic research, as a key aspect
to ensure good management of the CT and effective harmonization among participating
countries, will be covered. In addition, funding sources and key elements of budget preparation
when conducting multinational CTs will be covered, as well as the role of CT data sharing and
GDPR when sharing sensitive data across borders. Primary considerations on how to plan
clinical research that include data sharing plans, tools and services will be highlighted. The
main audience will be principal investigators, sub-investigators, study coordinators and project
managers who need training on the management of multinational trials. The methodology will
encompass a preparatory introductory online course in Year 1, followed by
adapted/upscaled advanced courses in different countries, taking advance of the ECRIN
distributed organization (see below). The expected number of trainees is up to 500 participants
per year for online introductory webinars on ERDERA website and up to 20-30 participants
per advanced course from Year 2. Conditions for train-the-trainer principle: ECRIN is a
distributed organization working with local experts in the ECRIN member countries, “EuCos”,
which are clinical research experts in their country, hosted by national partners18 which are
usually CT networks. This structure fits very well with the train-the-trainer principle fostered
by ERDERA, as EuCos can contribute both to adapting the training to national specificities
and to reaching the relevant audience. This will be implemented through the train-the-trainer
principle in collaboration with WP23.
ST20.3.5. Trainings to empower data research STL: VULSK; Contributors: ISS, LUMC, SRUMC,
UMCG, AUMC, WDO, DDF, UTWENTE.
The main target audience for the trainings of ST20.3.5 includes researchers, clinicians, allied
professionals, data managers and multistakeholder community, potential participants of ERDERA
funding schemes and users of WS Data Services Hub. The training objectives are to increase the
knowledge capacity of RD research stakeholders across Europe on the value of FAIR data and to
understand how the framework of FAIR principles ensures that valuable data can be easily found and
re-used by different stakeholders to advance RD research. Another training objective will be to
efficiently utilize the available legal tools and ethical frameworks accordingly, while considering open
science policies, state of the art technologies and upcoming markets, with the focus on data spaces and
data intermediaries. FAIR trainings foster future collaborations involving real time and automated
analysis of combinations of registries and other types of resources, boosting scientific and regulatory
evaluation and healthcare delivery, with the goal to generate open research ecosystems, while
empowering digital human rights under the notion of data control rather data ownership. In order to
successfully build a “Data Hub” where a higher volume of rich data from several EU patient registries
(e.g., PROs), eHealth records, and clinical registries (i.e., post-market data on therapeutics) can be
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combined, the competence and capacity of the RD community to make data FAIR and ready for
advanced, trustworthy exploitation must be accelerated. This increased competence will provide added
value in answering complex questions effectively, comprehensively, and correctly without moving
data from its original source. Trainees will be also upskilled and reskilled towards a trusted and fair
data culture, where choices are subject to documented and informed decisions for better research. An
integrated training and capacity building programme, developed together with WP14 Data Readiness
services and in close collaboration with the WS Data services Hub is needed to support acceleration,
encompassing online awareness webinars, in-depth online training with experts, and F F BY D’
workshops (a combination of hackathon and technical training on FAIR implementation). A new
element is competence on preparing data for the regulatory pathway for drug development. Each
annual edition is updated with new elements. The training events will contribute to building a solid
FAIR ecosystem in the field of RDs. During the trainings ongoing dialogues among stakeholders –
clinicians, researchers, regulators/policy makers, companies, patients/families/patient advocacy
organizations – will be key and engagement and collaboration between stakeholders can be
strengthened. The methodology: a scaled approach of gradual development of trainings is
foreseen from beginner-level (developed from Year 1) to advanced levels (developed from Year 2,
online and F2F BYODs). F2F BYODs are organized in WP14 as hackathons but are also the final step
in learning advanced technical skills for creating and using FAIR data. Further, interdisciplinary F2F
and on-line workshops on multiple research data flows will offer information and instructions to
facilitate data network building and generate fair data ecosystems. This subtask contributes to the train-
the-trainer aspect of BYODs, ensuring that participants become effective FAIR trainers themselves.
The expected numbers of trainees: up to 100 participants/year for online webinars available on
the ERDERA website from Year 1; 20-30 participants of intermediate-level and BYOD online
courses subsequently. The F2F BYODs are expected to train up to 10 participants to the most
advanced technical level. Conditions for train-the-trainer principle: In particular, the train-the-trainer
principle is applicable to the BYODs. Courses, workshops and the generated material on data ethics
and fair data ecosystem will be shared as Open Educational Resources.
T20.4. European Diploma on RD research (M1-M12) TL: UCSC, IBG; Contributors: c4c-S, ISS,
SU, UNIROMA1, ISCIII, ACU, UCD, RSU, VULSK, SFU. T20.4. aligns with GO:1; SO:4,5; OO:3,4.
This task aims to establish a higher education program culminating in an Academic Diploma with
credits, through a collaborative effort involving a multi-stakeholder faculty of academic and non-
academic partners experienced in training activities. The existing educational resources to train RD
professionals are fragmented and uneven across EU/AC countries leading to inadequate knowledge.
Targeting graduate-level students, the curriculum will cover RDs research innovation, also by
leveraging previous initiatives like the EJP RD MOOCs. This initiative will pioneer the development
of a standardized, graduate academic diploma program across the EU, establishing a professional
profile for RD research experts. This qualification, currently absent on a global scale, will mark a
significant advancement and empower the involvement and awareness of European universities in the
field, beyond the existing commitment of individual instructors in RD training initiatives.
ST20.4.1. Establish a cross ERDERA expert consortium and setup of training modules STL: SFU,
UCD; Contributors: all task participants.
Multilateral agreements will be made among academic and non-academic partners and connections
with European University Alliances, to ensure policy alignment and improve geographical
representation. The program set-up will be based on a minimum core-set of educational modules
defining Entrustable Professional Activities (EPAs) for learners to demonstrate proficiency. The
program design and set-up will be based on a minimum core-set of educational modules (10-12
foreseen) defining learning objectives, based on the Dublin Descriptors standards, along with
Entrustable Professional Activities (EPAs) for learners to demonstrate proficiency, needed to
implement the train-the-trainer principle. Principles of a program evaluation strategic plan will be
developed at this stage. o
ST20.4.2. Pilot program launch (starts M13).
ST20.4.3. Optimization and scale-up of the program (starts M35).
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ST20.4.4. Running the first systematic EU diploma curriculum (starts M35).
ST20.4.5. Optimization and updating of study plan (starts M52).
ST20.4.6. Pursue future sustainability of the established curricula STL: IBG, ISCIII. Contributors:
all task participants.
The task will consist of the analysis of components factors, and alternatives for ensuring the
sustainability of the program, assessing its potential lifecycle. T20.4.6 will support the identification
of potential stakeholders, including industrial and community partners, and other initiatives, in close
collaboration with T20.4.1. Tools for visualizing the current disposition (visualization), for identifying
risks and opportunities (SWOT) and for analysis of the potential business models (BM) and their
configuration (Business Model Canvas (BMC) will be applied. This work will go through different
processes:
• Current opportunities (as-is Business Model): identification of components, visualization, and
SWOT.
• Alternative BM designs: Based on BMC results, applied to the pilot program launched
(T20.4.2), searching and assessing different alternatives, including potential collaborations
and stakeholders, risk management and costs calculation.
• Prioritization and milestones: Based on impact of the pilot program, a selection of BM and
action plan will be put in place, considering the upgrades envisaged by T20.4.3.
• Implementation: execution of the model, applied to T20.4.4 and T20.4.5 work.
This will be done in close collaboration with the TLs of T1.5 (sustainability strategy), to ensure the
complementary business and market vision. For the whole curriculum continuous evaluation, the RE-
AIM (reach, effectiveness, adaptation, implementation, maintenance) method will be used. The goal
of RE-AIM is that planners and evaluators pay more attention to essential program elements including
external validity that can improve the sustainable adoption and implementation of effective,
generalizable, evidence-based interventions.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 21 Start Date or Starting Event M1: September 2024
Number
Set of Activities Technology accelerator
Title
Short name of BIU (40) CHARIT CIBER FHG CHI (45) CNRS FDB*
participant & E (44) (125) (55) (124) (155)
(No)
Person Months 0 17.70 5.98 20.60 6.50 6.62 6.00
Short name of FSJD- FTELE IMAGIN INSERM GNT INSERM UEF
participant & CERCA (5) E (70) _TARGE (63) _ART- (113)
(No) (60) T/ ARNm
NANTES (1)
(1)
Person Months 7.70 3.56 6.5 1.4 17.90 2.46 8.94
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Short name of KU OSR PEI UAB PLUS UKHD UC (28)
participant & Leuven (89) (140) (110) (141) (13)
(No) (77)
Person Months 12.29 14.31 12.08 6.64 5.10 0.97 19.08
Short name of UKLFR AZ* VHIR HIPRA* LAB UCB* ROCHE*
participant & (115) (151) (15) (157) HIPRA* (167) (165)
(No) (158)
Person Months 2.62 8.80 4.38 3.57 1.92 7.20 4.80
Short name of Miltenyi* Pfizer* REI* RJF*
participant & (160) (161) (163) (164)
(No)
Person Months 17.00 3.80 17.47 4.62
Start month M1 End month M12
*Associated partners providing in-kind contribution
State of the art behind this WP
Traditional treatments for RDs are largely focused on treating symptoms. Given that approximately
80% of RDs are of genetic origin, advanced therapeutic medicinal products (ATMPs) have opened
new opportunities for the treatment of RDs. ATMPs represent a ground-breaking approach to alter the
genetic composition of cells to correct disease-causing mutations or to express proteins or RNA
molecules that confer a therapeutic benefit. ATMPs offer thus the possibility of tackling the root causes
of RDs and of finding cures. However, whilst the concept of gene therapy is a complex process
comprised of multiple steps and components. This includes the right systems for getting nucleic acids
into target cells, the right DNA regulatory elements that control the amount, location and duration of
gene expression, and the efficient production of proteins with appropriate activity to alter cellular
function in the desired manner. Development of effective and safe gene therapies requires not only
novel technology, but innovative approaches to solve the technical challenges inherent to the research,
development, and production processes. This includes effective and well understood translational
science, robust and scalable manufacturing, well recognized and agreed standards, and critically a
collaborative and networked ecosystem capable to move forward all these above-mentioned
components together with the diverse technical challenges.
Recently, platform approaches and strategies have become a more efficient and a more common
approach to address treatment or diagnostics development including CTs. The advantage of developing
a “platform” technology is its capacity of adaptation or customization to specific needs based on a set
of standardized tools or techniques. This allows to streamline the development process, reduce costs,
and increase efficiency. To that end, in 2021, the National Institutes of Health (NIH) in the US, together
with the U.S. Food and Drug Administration (FDA), as well as multiple pharmaceutical companies
and non-profit organizations, launched the Bespoke Gene Therapy Consortium (BGTC). This
consortium aims to establish platforms and standards to speed up the development and delivery of
customized or “bespoke” gene therapies that could treat millions of people affected by RDs, including
diseases too rare to be commercially viable. At the same time in Europe, initiatives like RESTORE5
or RARE-IMPACT6 contributed to a better understanding of the European setting for ATMP
development and delivery. These initiatives demonstrated, on one hand, the exceptional potential of
the European landscape that comprises multiple actors with high potential for creating disruptive ideas
and technologies and, on the other hand, the overwhelming complexity of the delivery and treatment
processes as part of the healthcare environment.
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The Technology accelerator WP (WP21) is thus focused on streamlining the most promising gene
transfer technologies (ATMPs) currently developed to fulfil the medical needs of genetically
characterized RDs. By doing this, WP21 will create a unique network of expertise and excellence,
ready to assist industrial and academic developers of ATMPs by enabling access to translatable,
scalable, quality-controlled, and robust technologies, required to reduce the timeframe, the cost and
accelerate clinical development.
Methodology
WP21 will be dedicated to accelerating key technology areas identified to be the most promising, and
impactful for RDs. These include recombinant adenoviral vectors (AAVs) for gene therapy,
therapeutic RNAs, novel and extracellular vesicles as vehicles, in vivo gene editing approaches, and
strategies for monitoring therapy response (immune-mediated). For this, WP21 will focus on i)
manufacturing processes based on state-of-the art technologies, ii) analytical methods and assays to
better characterize these new medicinal products as well as to demonstrate their clinical utility and iii)
technological tools to address evaluation of therapy response as well as immunogenicity issues related
to in vivo administration of ATMPs.
To improve manufacturing, the approach will vary according to each type of ATMP. Today,
recombinant AAV vectors are the most promising and efficient tool to achieve delivery of therapeutic
DNA to various organs. However, long development time, expensive manufacturing processes and
very high costs of goods, make these efficient therapies rarely accessible to many patients. WP21 will
streamline cost-effective and harmonized AAV gene therapy development to make these vectors reach
a higher number of patients across Europe. This will be achieved by bringing AAV expert centres that
jointly will nurture standardization and quality control of AAV vectors. a
To address RNA-based therapeutic modalities, which are a rapidly growing field, with numerous CTs
underway in the context of several diseases. WP21 has assembled renowned scientists working with
RNAs in the context of several diseases (cancer, neurodegenerative and neuromuscular diseases) and
spanning from design and manufacturing to in vitro and in vivo evaluation. RNA molecules can be
used to target specific genes or pathways involved in disease processes and present a series of
advantages including relatively low toxicity, reduced risk of accidental infection or opportunistic
insertional mutagenesis. This is associated with a continuous breakthrough of delivery carriers, and
potential of inducing both temporary or long-lasting effects. Therefore, different strategies will be
tested for the design of more effective and stable RNA sequences. Small-scale manufacturing strategies
of RNA in vitro transcription will also be assessed using in vitro DNA amplification from various
DNA forms including optimizing methods for RNA purification.
Furthermore, WP21 will explore lipid (LNPs) which are considered as the current standard of mRNA
formulations. Despite the success of mRNA vaccines against COVID-19, there are well known
limitations for widespread use of mRNA for RDs. Extracellular vesicles (EVs) show promising
capacity to deliver nucleic acids and reach tissues, or specific cells and intracellular targets that are not
easily accessible to synthetic vectors, thereby opening new avenues for biotherapies. The goal of WP21
is to foster the development of novel types of nano(bio)particles including lipid (LNP), extracellular
vesicles and biohybrids to deliver mRNA cargo more efficiently in vivo. To meet this challenge,
partners gathering academic and private expertise will first gain a deep mechanistic understanding of
the behaviour of current LNPs/EVs/ in terms of extracellular interactions and intracellular processing
to enable rational design of novel mRNA/ formulations, including sustained release.
Finally, gene editing, which represents a new approach for precise manipulation of the human genome,
will complete the technological focus of WP21. Furthermore, WP21 proposes to overcome the hurdles
of gene delivery by using a variety of optimized gene editing (e.g., optimized Cas9 nucleases, base and
prime editors) and delivery reagents (e.g., AAVs and NPs, as well as virus-like particles, VLPs) for
efficient, targeted in vivo gene therapy.
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This work will be complemented by a comprehensive safety assessment analysis including the
evaluation of the potential (geno)toxicity and specificity. In addition, the increasing of efficiency of
ATMP manufacturing processes will be accompanied by the development of innovative approaches to
efficacy and quality controls. Generation of standard reference material will be a priority. Identity,
potency, and safety tests will also be developed to comply with regulatory requirements. Novel
methods to better characterize AAV vectors for clinical use will be developed, including evaluation of
capsid heterogeneity, and precise measurement of empty or partially loaded capsids. These tests will
be fully validated and the development of a miniaturized process for analytical assays will be
considered. The quality control of mRNA will also be taken into consideration. Partners involved in
the mRNA program will work on guidelines, requirements, standard reference materials and operating
procedures to increase the robustness of the regulatory framework of RNA therapeutics. In addition,
the WP21 program will also address a thorough evaluation of the various types of nanoparticles to be
used for mRNA loading (i.e. LNPs EVs and nanoparticles). For each type of nanoparticles formulation,
in vitro and in vivo evaluation of efficacy, pharmacokinetics, immunogenicity, and safety will be
carefully defined in close connection with work dedicated to mRNA and to therapy response.
Regarding gene edited cells, WP21 partners will screen optimized gene editing and delivery reagents
(i.e., nanoparticles, EVs and VLPs) in vitro in human HSPCs. Next, the overall clinical efficacy of in
vivo approaches will be assessed in relevant mouse models. After engraftment of human cells,
appropriately vectorized gene editing tools will be injected in the bloodstream to target HSCs. In
parallel, gene editing and delivery reagents (AAVs and nanoparticles) will be tested in vitro in CNS,
liver, retina, and muscle cellular models. In vitro selected gene editing and delivery reagents will be
tested in appropriate human organoid models, and/or humanized animal models to demonstrate
efficient in vivo editing limited to the target organ and correction of the pathological phenotype. The
safety of the different editing approaches will be assessed by a comprehensive analysis, of genomic
off-target sites and of induced chromosomal rearrangements, in clinically relevant cell types. To
uncover genome-wide off-target events, chromosomal rearrangements, and on-target aberrations in the
in vivo edited tissues/organs, as well as persistence of off-target effects, analysis will be performed on
genomic DNA and on cellular and plasma cell free DNA in longitudinal studies.
Therapy response represents a high unmet need to better characterize and monitor gene therapy
approaches. Preformed or de novo unwanted innate (unspecific inflammation) and adaptive immune
response (antigen-reactive T & B cells) to ATMPs have a major impact on safety (adverse effects by
tissue injury and life-threatening side effects reported after Intravenous (IV) delivery of massive
amounts of AAV viral particle) and efficacy (downregulation of therapeutic protein expression,
removal of therapeutically modified cells), as well as on the feasibility of re-application of gene
therapeutic tools (immunological pre-sensitization). Current diagnostic tools have several limitations
(robustness, specificity, sensitivity, etc.). Developing advanced technology platforms, including
devices and tests for preclinical characterization of gene therapy product candidates and further
monitoring of therapy response in patients is essential to understand unwanted immune response. This
will allow iterative refinement of gene therapeutic tools and targeted prevention/intervention in treated
patients with RDs. In addition, improved analysis tools for assessment of (geno)toxicity to enhance
safety and to predict efficacy and sustainability of innovative gene editing approaches is also needed.
In this WP, experts in therapy response will work in connection with AAV, mRNA, nanoparticles and
gene editing technological WPs to evaluate therapy response and bring a panel of improved and
dedicated technologies and analytical tools that are critical for the development of safe and efficient
ATMPs.
During the development of the AI-based system in ERDERA, the GAMP51 and Quality by Design2
good practices will be implemented by addressing specific requirements all along the development
1
Martin, K. C., & Perez, A. (2008). GAMP 5 quality risk management approach. Pharmaceutical Engineering,
28(3), 24.
2
Holm, P., Allesø, M., Bryder, M. C., & Holm, R. (2017). Q8 (R2) Pharmaceutical Development. ICH quality
guidelines: an implementation guide, 535-577.
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cycle. Some of those requirements deal with the technical robustness of the AI technology. We have
split up the tests into four categories:
Specifications of technical robustness:
• Performance of the tool will be demonstrated on a representative basis of the training dataset
collected in real conditions. For each new modification, this performance test will be executed.
• Biases will be avoided by an appropriate data selection (training dataset) done in collaboration
with biologists.
• A benefit/risk balance will be introduced to determine the acceptable risk related to the
expected benefit.
• We will provide a confidence indicator of each prediction.
Social robustness:
• We shall have to demonstrate that the final product does not show any discrimination with
regard to clinical parameters (sex, age, ethnic origin, etc.)
• We shall have to demonstrate the tool treat all patients fairly.
Reliability specifications
• We will introduce specifications and tests during the development to check that input
requirements are correctly implemented.
• Quality by Design (ICH Q8(R2)) and GAMP5 involve risk analysis methods and tools (ICH
Q9) to determine the risks associated with the use of the tool, implement means of risk control,
reassess the residual risk and determine whether the latter is acceptable in view of the expected
clinical benefit for the patient.
• If we need for information for the use of AI on personal data, GDPR will be validated in
accordance with the obligation to provide information to the person concerned.
• Robust study (protocol) of AI performance with qualitative and quantitative metrics will be
used.
Understanding the decision-making processes.
• We will provide a confidence indicator to give the researcher the ability to understand the
result provided by the AI.
• We will work on the interpretability of AI to avoid a “black box” effect and control the entire
development chain.
All those specifications are considered as Critical Safety Attributes that will be included in the
pharmaceutical Quality by Design paradigm of development recommended by the FDA and EMA in
the ICH Q8(R2) guidelines.
Objectives
In line with the aforementioned, the objectives of WP21 for Year 1 are:
• Definition of starting materials (plasmids, cell line, etc.) that can adequately support rAAV
manufacture. In accordance, WP21 will start working on the establishment of a rAAV base
manufacturing process in suspension cells using optimized plasmids/doggybone DNA; and in-
house reference materials, as validation of assays for measurement of vector-related CQAs,
and new assays to assess additional quality-related parameters or to replace existing analytical
assays.
• Optimization of RNA sequence design to provide higher stability, long-lasting efficacy, and
tissue/cell-specific expression. WP21 will also start working on the optimization of synthesis
and purification processes of RNAs and on the development of an in vitro screening system to
screen optimal RNA sequences based on RNA purity, immunogenicity, stability, and
translation efficacy.
• Investigation of mechanisms underlying extracellular interactions and intracellular processing
of LNPs/EVs to better understand LNPs/EVs uptake and trafficking, endosomal escape,
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delivery, macromolecular interactions, and biophysical processes in the cytosol of host cells
and associated innate immune/inflammatory responses.
• In vitro selection of editing tools (i.e., combination of editing enzymes and gRNAs) and
bespoke gene editing reagents to correct disease-causing mutations affecting human
Hematopoietic Stem and Progenitor Cells (HSPCs), the central nervous system and the retina,
and the liver and the muscle.
• Definition of test formats of different platforms used by the various partners of WP21 for in
depth-assessment of immune reactivity and outline of a test strategy to get best comparability
between labs. The first PoC studies using the different platforms to identify putative challenges
in detection of rare events will be initiated. Round table meetings with leaders of task 21.1-
21.4 will be also performed to evaluate and develop mitigation strategies to prevent/overcome
unwanted immune responses. Cas9-specific Treg as model system will be explored and the
best fitting Cas-specific T-cell receptor sequences will be selected.
Description of Programmed Activities
T21.1. Streamlining chemistry manufacturing and controls in AAV vector production (M1-M12)
TL: KU Leuven, UCB*, GNT. Contributors: VHIR, UC, UAB, INSERM_TARGET/NANTES, FHG,
PEI, UKHD, REI*, Miltenyi*, FDB*, ROCHE*. T21.1. aligns with GO:2; SO:1,4,5; OO:1,2,5.
The overall goal of T21.1 is to enable cost-effective and harmonized AAV gene therapy development
across Europe through standardization of manufacturing process and characterization of AAV vectors.
These goals include:
• Agreeing on starting materials (plasmids, cell line, etc.) that adequately support rAAV
manufacture;
• Agreeing and adapting a public background manufacturing process in suspension cells;
• Defining and validating fit-for-purpose manufacturing-related analytical assays;
• Developing novel technologies for analytical methods.
ST21.1.1. Establishment of a rAAV base manufacturing process in suspension cells STL: GNT;
Contributors: KU Leuven, UC, UAB, VHIR, INSERM_TARGET/NANTES, FHG, UCB*, PEI, FDB*,
UKHD, REI, Miltenyi*
The base manufacturing process will be designed based on publicly available, state-of-the-art
knowledge and methodologies identified after freedom-to-operate analysis. The process will be
established on frequently used capsids e.g. AAV8 or AAV9. Variables that are required to adapt the
process to other capsids will be identified (e.g. harvesting and downstream process development).
Subsequently, starting from Year 1, T21.1.1 will define the characteristics of a non-proprietary,
suspension producer cell line (e.g. growth conditions, average rAAV manufacture yield, etc.). If these
cell lines are not accessible/appropriate, the use of a commercially available cell line will be
considered. Next, T21.1.1 will assess and compare the characteristics of publicly available
manufacturing plasmids across the different dimensions and align on best practice using publicly
available information/methodologies as a starting point. This includes the sequence and constellation
of the ITRs best suited to support efficient rAAV manufacturing; the elements of the plasmid backbone
with respect to safety and optimal packaging (e.g. origin of replication, resistance gene, constitution
of ITR flanking sequences etc.). For the helper plasmid, improvement will be gained through i)
selection of promoters driving Rep/Cap expression which result in the highest yield and full/empty
ratio; ii) defining the constitution and expression levels of Ad5 helper genes resulting in the highest
yield and full/empty ratio.
Plasmids will later be tested in the suspension cell line selected in T21.1.1 at a scale of 25 ml using a
publicly available production process for research grade production (after Year 1). Time permitted,
transfer from plasmid format (3 best performing final plasmids) to doggybone DNA format will be
evaluated and process development and scaling will be performed to assess if the doggybone platform
yields a vector product of better quality at higher titres. A full agreement on requirements of base
manufacturing process including acceptable starting materials and success criteria (productivity,
recovery, contaminants) will be looked for with input from public and private partners. The next step
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will focus on adaptation of a ‘public background’ manufacturing process in (non-proprietary)
suspension cells. This will be guided by the industrial partners. Finally, the robustness of the process
will be tested by different partners on additional capsids/transgene cassettes at small scale during Y3.
The process will be adapted to produce different vectors, including those needed for the gene editing
studies described in T21.4 and the vectors that will be studied in T21.5.
ST21.1.2. Define and validate fit-for-purpose analytical assays for determining CQA-related
rAAV characteristics and explore new technologies to develop more accurate analytical methods
STL: KU Leuven; Contributors: GNT, PEI, VHIR, UC, UAB, INSERM_ TARGET/NANTES, FHG,
UCB*, REI, FDB, ROCHE*
Production of efficient and safe AAV vectors requires the set-up of several quality controls which rely
on relevant analytical methods. During Year 1, T21.1.2 will first define a minimal set of analytical
assays for purified vector to be used in preclinical development. A fit-for-purpose level of validation
needed for different stages of preclinical development will be defined. The base manufacturing process
defined in T21.1.1 requires assay(s) to determine vector yield in process. Academic and private
partners will verify if this assay is fit for purpose. Where needed, the assay will be further
optimized. Subsequently, T21.1.2 will start generating in-house standard reference material following
the guidance of the Regulatory Support Group (WP18) and private partners. This will cover validation
of the analytical assays identified above, using materials generated in T21.1.1, following the guidance
of regulatory/private partners to assess selected CQA-related vector characteristics. The major CQAs
include genome titre, capsid titre and full/empty capsid ratio. A focus on genome titre will be adopted,
should all three CQAs not be possible. Later steps will focus on assay development and validation to
assess additional quality-related parameters or to replace existing analytical assays.
T21.2: Advancing RNAs for therapeutics (M1-M12) TL: UC, Pfizer*, FHG; Contributors:
INSERM_ART-ARNm, CHARITE, UEF, PEI, FSJD-CERCA, GNT, RJF*, AZ*, Miltenyi*, HIPRA*,
LAB HIPRA*, FDB*.T21.2. aligns with GO:2; SO:1,4,5; OO:1,2,5.
The activities planned in T21.2 are aimed at designing RNA constructs that are best suited for efficient
production and incorporation into particles to deliver the relevant cargo to cells in vitro and in
vivo. The main objectives of the T21.2 are to investigate novel approaches for:
• RNA design, to achieve higher RNA stability, translatability, cell-specificity, and lower
immunogenicity.
• RNA manufacturing (RNA and DNA synthesis and purification), to allow more cost-efficient,
safer, faster, and scalable manufacturing and downstream processes.
• Analytical characterization and screening of optimal RNA molecules.
• Proof of principle efficacy of RNA-based gene/base editing tools (Crispr/Cas9, Sleeping
Beauty) in reporter cell lines.
• Large scale production of selected RNAs.
ST21.2.1. Design of RNA sequences (M1-M12) STLs: CHARITE, INSERM_ART-ARNm;
Contributors: UC, UEF, HIPRA*
Biologically active and effective RNAs depend on reliable design and preparation. From Year 1,
T21.2 will start working on RNA sequence design using model RNAs such as GFP or luciferase as
well as mRNA for gene editing tools such as Cas9 and transposase. T21.2 will focus on different
regions of the RNA structures, including the ’ cap (development of cap analogues to prevent
decapping at the 5' end), poly(A) tail (increase length), ’ and ’ untranslated regions (naturally
occurring or synthetic), coding region (codon optimization using organ-specific codons or GC3-
codons, for example, which increase transgene expression and stabilize RNAs due to a higher GC
content, without affecting the amino acid sequence), and regulatory regions, which still need to be fully
understood. Tissue/cell-specific expression (e.g., brain, muscle, liver, immune cells) will also be
explored through the development of tissue-specific sequences.
ST21.2.2. RNA manufacturing STL: UEF; Contributors: INSERM_ART-ARNm, CHARITE,
Miltenyi*, FDB*, HIPRA*
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This task will be dedicated to the optimization of synthesis and purification processes of RNAs. From
Year 1, T21.2.2 will focus on the optimization of RNA in vitro transcription (IVT) by engineering
polymerases for high capping efficiency and high RNA yields and incorporation of chemically
modified nucleotides (longer stability and lower immunogenicity). Different methods for RNA
purification will also be explored (removal of free ribonucleotides, short RNA and DNA templates,
and immunostimulatory contaminants).
ST21.2.3. Analytical characterization and screening of optimal RNA molecules STL: FHG;
Contributors: UC, INSERM_ART-ARNm, HIPRA*, GNT, FDB*.
To evaluate RNA purity, immunogenicity, stability, and translation efficacy, T21.2.3 will develop an
in vitro screening system for transgene expression determination and normalization to RNA content in
cells, based on luminescent and/or fluorescent reporters. This system will be later used to reveal
optimal RNA constructs regarding RNA sequence, codon usage, cap analogue, poly(A) tail, chemical
modified nucleotides, and flanking UTR regions. Purity and stability studies of selected RNAs will
also be conducted.
ST21.2.4. Proof of principle demonstration of efficacy and head-to-head comparison of selected
RNA molecules in reporter cell line STL: UC; Contributors: CHARITE, FSJD-CERCA, UEF, PEI,
GNT, HIPRA*, FDB*.
From Year 2, reporter cell lines will be used to assess and compare the efficacy of selected RNA
sequences (e.g., delivery of mRNA for gene replacement or mRNA-based gene editing tools for stable
gene therapy, namely CRISPR/Cas9 and Sleeping Beauty (SB) transposon technology).
ST21.2.5. Strategies for large scale production of selected RNAs (starts M36) STL: FHG;
Contributors: RJF*, Miltenyi*, HIPRA*, GNT
The scale-up of RNA production presents unique challenges that will be addressed in this task in Year
3-Year 5. T21.2.5 will gather theoretical advice on the needs to scale towards clinical batches.
No activity is planned for Year 1.
ST21.2.6. Streamline of a robust regulatory framework for RNA therapeutics STLs: Pfizer*, UC;
Contributors: FHG, CHARITE, UEF, RJF*, AZ*, LAB HIPRA*
The rapid rise of mRNA therapeutics and advances in the field have not been accompanied by a robust
regulatory framework. Partners from T21.2 will work in close collaboration with WP18 to have
regulatory input and support around the tools and platforms being developed. T21.2.6 will work on the
streamline of guidelines, requirements, standard reference materials and operating procedures for RNA
therapeutics throughout the project.
T21.3. Advancing of novel types of mRNA nanoparticles including LNP, extracellular vesicles
(EVs) and biohybrids (M1-M12) TL: INSERM_ART-ARNm, Pfizer*, CNRS. Contributors: FHG,
PEI, UC, CHARITE, CIBER, VHIR, PLUS, UEF, Miltenyi*, AZ*, RJF*, HIPRA*, LAB HIPRA*,
FDB*, ROCHE*. T21.3. aligns with GO:2; SO:1,4; OO:1,2.
This task aims to advance the development of mRNA nanoparticles/EVs for gene editing of specific
cells and organs as targets addressed in this project, i.e., hematopoietic stem cells, PBMC subsets,
CNS, retina, liver, and muscle. This will be achieved in close collaboration with T21.2 for RNA design
and production and T21.4 for gene editing evaluation in specific models. The specific objectives of
T21.3 are to:
• Gain mechanistic understanding of current LNP/EVs extracellular interactions and
intracellular processing enabling rational design of novel mRNA formulations, including
sustained release.
• Develop computational tools to implement formulation design efficiency.
• Design standardized protocols for in vitro and in vivo evaluation of efficacy, pharmacokinetics,
immunogenicity, and safety.
• Demonstrate of scalability of optimized mRNA nanoparticles formulations.
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• Compare and characterize PK and biodistribution of selected mRNA nanoparticles
formulations from various routes of administration (i.v, i.m, i.p).
• Define regulatory quality control parameters of mRNA formulations in compliance with
regulatory expectations and regulatory advice (de-risking approach to maximize the
production of relevant mRNA formulations for clinical use).
ST21.3.1. Mechanistic understanding of current LNPs/EVs in terms of extracellular interactions
and intracellular processing to enable rational design of novel mRNA formulations, including
sustained release STLs: INSERM_ART-ARNm, PEI; Contributors: VHIR, UC, CHARITE, Miltenyi*,
CIBER, PLUS, CNRS, Pfizer*, AZ*, HIPRA*, FDB*
The goal is to gain a deep understanding on extra and intracellular barriers that mRNA particles
formulations must overcome for an efficient mRNA translation. Benchmark of innovative formulations
will be based on quantitative multimodal characterization and on quantitative assays of intracellular
uptake of mRNA particles and mRNA delivery and translation. In collaboration with T21.2 partners,
T21.3.1 will thus: i) Investigate the impacts of targeting and protein corona in the uptake on
intracellular trafficking, endosomal escape of mRNA LNP/EV and mRNA translation efficiency (Year
1); ii) Mimic viral and/or extracellular vesicle (EV) uptake, release, and trafficking including lessons
learnt from viral infection and EVs in terms of macromolecular interactions and biophysical process
in the cytosol of host cells (Year 1 - Year 2); and iii) Characterize the innate immune
response/inflammatory response following delivery of mRNA nanoparticles, especially in HSPC and
PBMC subsets (Y2).
ST21.3.2. Development of tools to implement formulations efficiency STLs: CNRS, RJF*;
Contributors: INSERM_ART-ARNm, PEI, UEF, Pfizer*, HIPRA*
In-silico modelling and data-driven approaches emerged as indispensable methods for solving complex
biological problems and their power has been particularly proven in projects related to ligand-target
association, drug, and formulation designs. Starting in Year 1, T21.3.2 will apply and develop
technologies for optimization and quality control (critical quality attributes) based on computational
calculation to get a quantitative structure activity relationship (QSAR) of LNPs, EVs and biohybrids,
using the multimodal data of T21.3.1. Two strategies will be pursued: (i) Quality by design
methodologies (accelerated modular-orthogonal methodology for instance) to implement mRNA
formulations and multimodal characterization of nanoparticles, EVs and biohybrids (ii) In vitro and in
vivo translation models/predictions. Data-driven methods (using the data generated from partners
before and during the project in T21.3.1-3) will be used to bring the systems and techniques towards
technically robust, accurate and reproducible results in synthetic carrier design. Computational
approaches will be used only to improve nucleic acids delivery in the specific tissue/cells of interest.
ST21.3.3 In vitro and in vivo evaluation of efficacy, immunogenicity, and safety of mRNA
formulations STL: CHARITE; Contributors: INSERM_ART-ARNm, CNRS, CIBER, UC, PEI, PLUS,
Pfizer*, VHIR, HIPRA*, LAB HIPRA*, FDB*
From Y2, T21.3.3 will produce protocols on processes and methods-based on quality standards to
evaluate pharmacokinetics and controlled release, biodistribution, efficacy, and immunogenicity and
safety of mRNA formulations in vitro and in vivo. No activity is planned for Year 1.
ST21.3.4. Demonstration of scalability of targeted and optimized mRNA formulations made with
synthetic nanoparticles and EVs STL: FHG; Contributors: INSERM_ART-ARNm, CNRS, UC,
CIBER, PLUS, RJF*, HIPRA*, LAB HIPRA*, FDB*
For clinical applications, it is crucial to select targeted and optimized RNA formulations that are
amenable for large scale production in a cost-effective way. To reach this goal, from Y3, T21.3.4 will:
(i) develop innovative loading processes of cargos for gene expression and editing purposes (ii)
determine the most efficient targeting strategies for different types of formulations (iii) propose cost-
effective methods for large-scale production of stable mRNA formulations. No activity is planned for
Year 1.
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ST21.3.5. Comparison and characterization of PK and biodistribution of mRNA formulations
upon various routes of administration (i.v, i.m, i.p, i.p) STL: CHARITE; Contributors: FHG, VIHR,
Miltenyi*, CIBER, UC, PLUS, Pfizer*, RJF*, HIPRA*.
After Y3, T21.3.5 will compare and characterize the stability and physicochemical interactions of RNA
formulations without or with biomaterials and develop delivery/release devices to control
pharmacokinetics and biodistribution. No activity is planned for Year 1.
ST21.3.6 Definition of regulatory quality control parameters of RNA formulations in compliance
with regulatory expectations and regulatory advice STLs: Pfizer*, UC; Contributors: CNRS,
INSERM_ART-ARNm, FHG, VHIR, HIPRA*
Few studies are available to assist in the regulatory categorization of RNA-based products. Defining
regulatory QC parameters is thus crucial. In this context, from Y2, in close collaboration with WP18,
T21.3.6 will consider regulatory challenges with mRNA nanoparticles quality, starting material
quality, release testing and characterization as well as regulatory challenges with EV and biohybrids
encapsulating mRNA. No activity is planned for Year 1.
T21.4. Gene editing approaches towards therapy of RDs (M1-M12) TL: OSR, Miltenyi*,
IMAGINE. Contributors: UC, CIBER, GNT, UKLFR, BIU, UAB, FSJD-CERCA, FTELE, AZ*, Pfizer*,
FDB*, ROCHE*. T21.4. aligns with GO:2; SO:1; OO:1.
Gene editing has the potential to become a powerful new approach for the treatment of rare inherited
diseases. The current gene editing tool of election is CRISPR-Cas9. This easy-to-program, RNA-
guided system can be used to induce a DNA double-strand break (DSB) into a preselected site of the
genome. DSB locally activates cell-intrinsic repair pathways, such as homology directed repair (HDR)
and non-homologous end joining (NHEJ), which can be harnessed either to correct single point
mutations and insert therapeutic cDNAs (using a co-delivered donor DNA temple) or to inactivate
photogenic genes, respectively. Recent evolutions of the CRISPR-Cas9 system include base and prime
editing. These tools can be used for single-base conversion or targeted insertion of short stretches of
DNA. At variance with CRISPR-Cas9-mediated gene editing, base and prime editing require a single-
stand DNA nick to operate, thus reducing the genotoxic risks associated with the induction of DSBs.
Although promising, in vivo therapeutic application of gene editing is still limited by: (i) the paucity
of gene delivery modalities compatible with effective, safe, and transient expression of the editing
components; (ii) a full understanding of its genome-wide specificity profile, as editing may come with
both on- and off-target consequences, including chromosomal aberrations and random integration of
the donor DNA template. Overcoming these hurdles would allow to realize the full potential of gene
editing.
The overarching goal of this task is to develop safe and effective in vivo gene editing strategies to treat
paradigmatic rare inherited diseases affecting the blood, central nervous system, retina, liver, and
muscle. Specific objectives are:
• To nominate combinations of bespoke editing reagents and delivery modalities in clinically
relevant cell types from the blood, central nervous system, retina, liver, and muscle.
• To provide proof-of-principle of effective and safe correction of disease-causing mutations in
vivo.
ST21.4.1. In vitro selection of effective gene editing strategies to target blood, neuronal, retinal,
liver and muscle cells STL: OSR; Contributors: IMAGINE, Miltenyi*, UC, CIBER, GNT, UKLFR,
AZ*, FTELE
This ST aims to identify effective and safe strategies for in vitro editing for RDs by comparison of
editing strategies and delivery methods. Activities will start from Year 1 and include:
In vitro selection of bespoke gene editing reagents to correct disease-causing mutations in human
Hematopoietic Stem and Progenitor Cells (HSPCs). Here, T21.4 will tackle the following RDs: (i)
Sickle Cell Disease (SCD), an hemoglobinopathy caused by a single point mutation in the beta-globin
(HBB) gene, causing red blood cell deformation (“sickling”) leading to anaemia, vaso-occlusive crises
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and multi-organ damage; Fanconi Anemia (FA), a bone marrow failure syndrome characterized by
chromosomal abnormalities and increased susceptibility to cancer and caused by mutations in the
FANC genes that are involved in DNA repair; WHIM syndrome, an immunodeficiency caused by
heterozygous Gain of Function (GoF) mutations in the CXCR4 gene altering cell migration in response
to SDF-1 (the ligand of CXCR4 receptor), calcium flux and causing neutrophil retention. As gene
editing tools, T21.4.1 will exploit and compare the efficiencies of: (i) CRISPR-Cas9 and related
orthologues, including recently developed engineered variants, such as SpOT-ON or HDR-CRISPR,
that hijack the DNA repair pathways towards either non-homologous end joining (NHEJ, which leads
to gene disruption) or homology-driven repair (HDR, which leads to gene correction and/or targeted
transgene integration via a donor DNA template); (ii) base and prime editors, which allow to correct
single point mutations and/or insert short stretches of exogenous DNA. For HDR-based approaches,
as donor DNA template for gene correction and targeted integration, T21.4.1 will compare AAVs
(from T21.1), Integrase Defective Lentiviral Vectors and single-stranded oligodeoxynucleotides
(ssODN). Initial selection of editing tools (i.e., combination of editing enzymes and gRNAs) will be
performed in cell lines (M1-M12). Validation experiments will be then conducted in HSPCs from
either healthy donors and/or patients using the best-performing editing tools delivered either as
mRNAs (in collaboration with T21.2) or as ribonucleoproteins (M13-M18). Subsequently, the
following gene delivery modalities will be compared: (i) electroporation (an approach already
available in the laboratories of the applicants); (ii) nanoparticles, EVs and biohybrids, which will be
developed in T21.3; (iii) Viral Like Particles (VLPs) (M18-M48). Longitudinal analyses (e.g., NGS,
ddPCR) of treated cells will be used to assess editing efficiencies and to identify the best-performing
editing reagent for each disease. Phenotypic characterizations and functional assays (e.g., colony
forming assay) will be used to assess treatment related toxicities. When possible, functional correction
will be assessed by performing appropriate assays, for example erythroid differentiation and sickling
assay for SCD, reversal of hypersensitivity to interstrand crosslinking agents (e.g., mitomycin C,
MMC) for FA, and CXCR4 expression upon SDF-1 stimulation, migration assay and calcium flux for
WHIM syndrome. All these assays are already established in the laboratories of the applicants. Overall,
from these in vitro studies the best-performing editing reagents for each of the proposed diseases and
effective gene delivery modality for HSPCs will be identified.
In vitro selection of bespoke gene editing reagents to correct disease-causing mutations affecting
the central nervous system and the retina. Here, T21.4.1 will tackle the following RDs: (i)
Spinocerebellar ataxia type 3 (SCA3) by ablation of the expansion of the CAG triplet repeat in the
Ataxin 3 (ATXN3) gene or base-editing to induce exon-skipping (ii) Alexander disease (AXD) by either
NHEJ-mediated inactivation or base editing-mediated gene correction of the Glial Fibrillary Acidic
Protein (GFAP) gene; (iii) Amyotrophic Lateral Sclerosis (ALS) by allele-selective inactivation of the
Superoxide Dismutase 1 (SOD1) gene carrying the frequent GoF mutation c.11C>T; (iv) Retinitis
Pigmentosa type 4 (RP4) by homology-independent targeted integration (HITI) of a corrective cDNA
within the Rhodopsin (RHO) gene. Initial selection of editing tools (i.e., combination of editing
enzymes and gRNAs) will be performed in cell lines (M1-M12), followed by validation in relevant
human cell models, including (when available) immortalized cell lines and iPSC-derived cells from
both healthy donors and patients (M13-M48). In these latter studies, different gene delivery modalities
and donor DNA template formats will be compared. . Molecular analyses (e.g., on-target editing by
NGS and gene expression) and phenotypic characterizations of treated cells will be used to assess
editing efficiencies and treatment related toxicities, respectively. Functional correction will be assessed
by the recovery of disease-specific pathological hallmarks (e.g., reduction in protein aggregates,
improved survival of gene corrected cells). All these assays are already established in the laboratories
of the applicants. Overall, from these studies the best-performing editing reagents for each of the
proposed diseases and effective gene delivery modality for the indicated cell types is expected to be
identified.
Selection of bespoke gene editing reagents to correct disease-causing mutations affecting the liver
and the muscle. ST 21.4.1 will tackle the following RDs: (i) Progressive Familial Intra-hepatic
Cholestasis type II (PFIC-2) by HDR-mediated insertion of a corrective cDNA within the disease
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causing gene ATP Binding Cassette Subfamily B Member 1 (ABCB1), which encodes bile salt export
pump (BSEP); (ii) Duchenne Muscular Dystrophy (DMD) by CRISPR-Cas9 or base editing disruption
of sequences inhibiting the expression of Utrophin, a protein that can compensate for dystrophin
deficiency in DMD. Initial selection of editing tools (i.e., combination of editing enzymes and gRNAs)
will be performed in cell lines (M1-M12), followed by validation in relevant human cell models,
including (when available) immortalized cell lines, primary cells and iPSC-derived cells from both
healthy donors and patients (M13-M48). In these latter studies, different gene delivery modalities and
donor DNA template formats will be compared. Molecular analyses (e.g., on-target editing by NGS
and gene expression) and phenotypic characterizations of treated cells will be used to assess editing
efficiencies and treatment related toxicities, respectively. Functional correction will be assessed by the
recovery of disease-specific pathological hallmarks (e.g., staining of the Dystrophin-Associated
Protein Complex, for DMD). All these assays are already established in the laboratories of the
applicants. Overall, from these in vitro studies the best-performing editing reagents for each of the
proposed diseases and effective gene delivery modality for the indicated cell types is expected to be
identified.
ST21.4.2. In vivo gene editing in model systems of the blood, CNS, muscle, retina, and liver STL:
IMAGINE; Contributors: OSR, UC, Miltenyi*, CIBER, GNT, FTELE, Pfizer*
This ST will combine the best-performing editing tools identified in Task 21.4.1 and will validate them
in relevant in vitro 3D and in vivo mouse models of the selected diseases after Y2. No activity is
planned for Year 1.
ST21.4.3. Unbiased, genome-wide specificity profiling of the best-performing gene editing
platforms STL: UKLFR; Contributors: BIU, OSR, FDB*, ROCHE*
This ST is focused on establishing a comprehensive safety assessment of the best-performing gene
editing platforms developed under T21.4.1 and 2, thus creating standards and baseline data on the
overall specificity and toxicity of the proposed genome editing processes. Individual tasks foreseen.
To be initiated in Year 2.
ST 21.4.4. Detect the effects of gene editing platforms at the phenotypic level on different
organs STL: Miltenyi; Contributors: UC, FDB*, ROCHE*
This ST focuses on establishing comprehensive workflows to detect specificity and toxicity of the
administered modalities in vivo at the phenotypic level. Activities will start in Y2.
T21.5. Assessment of therapy response and immunogenicity (M1-M12) TL: CHARITE, Pfizer*;
Contributors: CHI, Miltenyi*, ROCHE*, FSJD-CERCA, UAB, UC, OSR,
INSERM_TARGET/NANTES, AZ*, UCB*. T21.5. aligns with GO:2; SO:1,4; OO:1,2.
The main objective of task 21.5 is to develop, qualify and validate innovative and complex platforms
(tests + devices), used to characterize therapy response with a focus on unwanted immune reactions
directed to vectors, RNA, lipid particles, gene editing tools, and therapeutic proteins and to develop
mitigation strategies to overcome these unwanted effects. The specific objectives of T21.5 are:
• To challenge, develop and optimize advanced molecular and cellular test platforms, designed
to investigate undesired innate and adaptive immune responses, in relevant in vitro and in vivo
model systems.
• To use test platforms to measure the immune response directed to ATMPs developed within
the T21.1-T21.4.
• To develop and implement strategies preventing/overcoming unwanted immune reactions
directed to ATMPs platforms generated within T21.1-T21.4.
• To support the development of standardized tests for potency and (geno)toxicity.
ST21.5.1. Develop and optimize complex platforms for in depth-assessment of immune reactivity
STLs: CHARITE, Pfizer*; Contributors: CHI, Miltenyi*, ROCHE*, FSJD-CERCA, UAB, UC, OSR
The ability of robust and meaningful analysis of therapy response is a key asset in optimizing
therapeutic tools, patient selection, and prevention or management of adverse effects – in other words
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contributes to de-risking and acceleration of the development of novel therapies. Therefore, T21.5.1
aims to determine whether there are tolerability/immunogenicity risks associated with ATMPs. This
characterization allows to overcome several limitations regarding robustness, specificity, sensitivity,
and information value of routinely used diagnostic tools (ELISpot, cytokine panel, whole blood assays
etc.). As risks are identified, the development and optimization of complex platforms to measure
therapy response to ATMPs become crucial. Task T21.5.1 will thus also target the development and
optimization of advanced complex test platforms (devices + tests) for in depth characterization of
immune response, starting from Year 1. These platforms will be tested on prototypes ATMPs
delivered by T21.1-T21.4. These platforms will allow:
• Deep analysis of innate and antigen-specific T-/B-cell immune response to various ATMPs
using molecular technologies such as, multi-omics single cell-technology (CITEseq, RNAseq,
TCRseq, NGS), mass cytometry (Cytof), multiplex RT-PCR, multiligand assays, metabolic
studies, and 3D lightsheet microscopy for understanding the impact of each immune cell
repertoire to unwanted therapy response and designing test formats.
• Development of complex and robust in vitro diagnostic platforms supportive for the
clinical development and implementation of ATMPs tools that are in the focus of T21.1-T21.4:
Design of targeted molecular (RT-PCR) and proteomic (flow cytometry, or automated ELISA
platform) or mixed (CITEseq/RNAseq) assays based on data from the deep analysis of innate
and antigen-specific T-/B-cell immune response performed in T21.5.1.
Selection criteria for set-up of platforms will be high information value, sensitivity, robustness, with a
high throughput, and feasibility. They should outperform currently used technologies to measure
therapy response as Elispot, ligand quantification by ELISA, standard flowcytometry. These platforms
will include the development of: (i) qualified targeted (with higher resolution) multiomics approach
at single cell level to assess T-/B-cell and innate cell response (ii) qualified high-resolution flow
cytometry assays to assess in vitro functionality of specifically triggered T-/B- and myeloid cell
subsets, iii) assessment in vitro T cell functionality by targeted gene or protein expression panel as
read-out following stimulation with specific reagents relevant to T21.1-21.4 Best performing and
robust platform(s) will be selected and further developed with the aim to: (i) develop an in vitro/ex
vivo transcriptomic or proteomics-based prototype analysing a set of targeted genes/proteins specific
for T-cell response selected from T21.5.1 and assessed via the developed ATMP tools (T21.1-T21.4)
(ii) develop a (semi)automatic bioinformatic pipeline to analyse multiomics single cell data for robust
and fast assessment of immune cell response at high resolution based on data from T21.5.1 and proven
with the developed ATMP tools.
ST21.5.2. Use in vivo and in vitro tissue model systems to verify the feasibility of test platforms
developed STL: INSERM_TARGET/NANTES; Contributors: CHARITE, Pfizer*, CHI, ROCHE*,
FSJD-CERCA, UC, OSR, Miltenyi*
Peripheral blood samples and conventional in vitro 2D-cell cultures do not completely reflect
intratissue immune processes, that are of major clinical impact. To allow high quality assessment of
intratissue immune response, the test systems developed under T21.5.1 will be verified in more
clinically relevant and complex in vivo/in vitro model systems and if necessary refined, taking into
consideration age and gender aspects of the donors. Activities will start in Y2.
ST21.5.3. Qualified/validated selected test platforms to assess immune reactivity STLs: CHI,
Pfizer*; Contributors: ROCHE*
To bring tests from an exploratory level to decision-making tools, their qualification/validation
according to regulatory requirements (FDA/EMA, GCLP, CE) is necessary. Complex test platforms
will be assessed with inherent biologic variation, in accordance with regulatory guidelines for
standardization. T21.5.3 will be initiated in Y3.
ST21.5.4. Evaluate and develop mitigation strategies to prevent/overcome unwanted immune
response STL: CHARITE; Contributors: T21.1-T21.4 partners, OSR, UAB, ROCHE*, Pfizer*
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Commonly, current strategies to mitigate unwanted immune response directed to gene therapeutic
tools are based on conventional steroid and sometimes calcineurin inhibitor treatment with limited
efficacy and significant side effects. Moreover, assessment of preformed and de novo developing
immune responsiveness lacks sensitivity and delivery of differential risk information making
individual prediction of clinical impact difficult and therapeutic intervention mostly comes too late.
The technologies developed under T21.5.1-3 and to be applied in CTs will deliver improved data for
risk stratification regarding preformed and de novo immune reactivity. Identification of the
unwanted immune response pathways (both preformed and de novo response) offer a better guide of
immunomodulatory prophylaxis/therapy regime. Consequently, T21.5 will follow two options,
from Year 1: (i) The design of gene therapeutic tools can be iteratively improved to minimize
triggering of immune responses. This will be achieved with a feedback loop to improve iteratively,
together with T21.1-T21.4, the design of gene therapeutic tools in order to achieve neglectable
induction of unwanted immune response, (e.g. by CpG depleted or reduced transgene variants,
altered Cas proteins codon optimization immune). (ii) Targeted immune regulatory interventions in
patients receiving gene therapies can improve safety and efficacy profile of those therapies. Recent
data show that regulatory T cells (Treg) can combat sufficiently undesired effector T cell response,
opening a new option to reshape sustainably immune response. T21.5.4 will bring proof-of-
principles of a novel approach based on generation of Cas-specific Treg by selective enrichment of
antigen-reactive Treg or redirected specificity of polyclonal Treg (CAR, tgTCR) by gene editing and
testing in preclinical model systems to combat Cas-specific preformed effector T/B response as first
application case.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 22 Start Date or Starting M1: September 2024
Number Event
Set of Activities Public-private collaboration accelerator
Title
Short name of EATRIS AFM FFRD ISCIII SRUMC EURORDIS (26)
participant & (No) (22) (30) (29) (72) (11)
Person Months 12 12 12 6 3 0
Start month M1 End month M12
State of the art behind this WP
Translating scientific findings into socio-economic value in the biomedical domain is extremely
challenging. High failure rates and long development times are hallmarks of the innovation process,
with the average cost of each new medicine entering marketing authorization exceeding 2 billion
USD. Early translation, identified as the development from first non-clinical proof of principle
demonstrating the validity of a disease target to safe entry of a disease-modifying therapy into clinical
development, is particularly difficult. Known as the ‘Valley of Death,’ early translation is nonetheless
essential to conduct within academia and non-profit setting given the challenging market conditions
for industrial development in RD. ‘De-risking’ projects is then necessary to build a dossier of
knowledge about the target, disease, and intervention sufficiently strongly so that commercial and
other stakeholders will invest in the costly clinical development pathway and implementation into the
healthcare domain.
Challenges remain difficult and there is no over-arching framework to bring together all players. The
creation of an accelerator framework brings to bear the significant public and private expertise in
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disease biology and technology development, as well as the vast clinical expertise available in the
CRNs and ERNs.
Methodology
De-risking involves several very important components, including a deep understanding of the disease
phenotype and natural history, along with (ideally) a mechanistic understanding of the molecular basis
of the disease. The former is essential in order to be able to gain meaningful clinical data on the
performance of the novel intervention, while the latter provides a solid basis for developing non-
clinical models and clinical biomarkers to evaluate the performance cost-effectively.
The goal of this accelerator programme through WP22 is working very closely with WP21 for best
delivery technology selection – to develop and operate an integrated multinational and multi-
stakeholder Research & Innovation ecosystem for RD focused on streamlining the process of
advancing promising early-stage diagnostic or therapeutic intervention candidates into clinical
development.
It will do so by creating and operating an innovation marketplace, supporting, and connecting
promising RD projects with R&D experts, patients, and public and private investors, to enable further
development with the aim of clinical implementation.
Objectives
The primary goal of the Accelerator is to create an integrated multinational and multi-stakeholder
Research & Innovation ecosystem for RD (SO5) focused on streamlining the process of advancing
promising early-stage diagnostic or therapeutic intervention candidates into clinical development
(GO1 and GO2). The WP22 is dedicated to these two general objectives. Given the well-known
challenge of moving from the technology push of (more academically-focused) scientific research into
rigorous ‘market pull’ development of promising technologies and interventions – often known as the
valley of death - this WP will assemble the know-how, facilities, patients, and investors necessary to
successfully navigate translation. It will do so by creating and operate an innovation marketplace,
supporting and connecting promising RD projects with R&D experts, patients, and public and private
investors, to enable further development with the aim of clinical implementation.
Description of Programmed Activities
Activities for Year 1 will include the creation of workflows and legal documentation necessary to
structurally identify, evaluate and select projects, the liaison with third party investors and innovation
funders and the definition and readiness of the project selection process.
T22.1. Setting up the marketplace (M1-M12) TL: ISCIII; Contributors: AFM, EATRIS, FFRD,
SRUMC, EURORDIS. T22.1. aligns with GO:2; SO:4,5; OO:3,5.
T22.1. is dedicated to esx. The task contributes to SO4, SO5 through OO3, OO5
ST22.1.1. Operational workflows STL: ISCIII; Contributors: SRUMC, FFRD, AFM, EATRIS
The following activities will take place in Year 1
• Establish of standard procedures for information sharing: Process workflows will be defined,
and legal documentation created to facilitate information sharing in the accelerator and support
the establishment of a strong legal framework. Feedback from stakeholders (industry, patients)
will be integrated, and input from the Expertise Services Hub will be used as needed.
• The defined workflows will be collected in a set of Standard Operating Procedures (SOP)
(Milestone MS22.1, accelerator workflows completed in M12) which will include legal
documentation, with particular attention to confidentiality and conflict of interest statements.
In order to present the accelerator mechanisms to potential investors, these SOPs will be
summarised and made into a presentation deck.
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ST22.1.2. Liaison with prospective investors (public and private) STL: FFRD; Contributors:
ISCIII, AFM, EATRIS
• From M6 FFRD will start liaising with prospective investors and bring them into the
marketplace. Innovation support initiatives, (corporate) venture capital, SME and large
pharma/biotech, philanthropic and charitable research funders, national public funders, and
non-profit medicines access initiatives will be identified and approached. Those willing to
participate will be onboarded by signing letters of intent that cover confidentiality, scope of
engagement, selection criteria for projects, type of support, financing, intellectual property
rights, exclusivity, and other features relevant to innovation support, like patient-centric
research and patient involvement. Participating entities will form an accelerator community
acting as follow-on support for RD projects. Experts from within this community will also be
requested to join the pool of mentors in WP17 to be able to advise on exploitation and
maximisation of results.
• Letters of intent and template project agreements will be publicized from existing resources
such as the EATRIS Innovation Helpdesk and EJP RD IMT.
ST22.1.3. Project selection process STL: AFM; Contributors: EATRIS, FFRD, EURORDIS
• Year 1 will be dedicated to defining the project selection process, criteria and usability to set
up the outreach and project identification. This activity will be carried out in close
collaboration with the WP3 JTC and the CRN workstream. Workflows for the exploitation of
specific expertise will be designed in conjunction with WP17.
T22.2. Acceleration readiness (M1-M12) TL: AFM; Contributors: EATRIS, FFRD, EURORDIS.
T22.2. aligns with GO:2; SO:1,4; OO:1,3,5.
This task’s goals are to define a project selection process and criteria, ensure that ERDERA-funded
projects are designed with exploitation in mind, projects scouted for their suitability for acceleration
in a timely fashion, and to engage with other funding bodies to scout projects from other sources. These
activities will take place in Year 1.
The project selection process will be defined in detail in close dialogue with the research funders and
investors, based on criteria that ensure strong scientific rationale, clear unmet medical need, feasibility
of route to market (manufacturing, scale-up, IP etc). Patient involvement in the selection process will
be defined. Projects with a validated molecular target and suitable therapeutic modality for the disease
context will be selected. AFM and FFRD will provide advisory services to the JTC funding secretariat
and committee during definition of JTC calls to ensure that supported project results will be maximally
robust and exploitable. Moreover, links with synergistic funding initiatives will be established so that
high potential RD projects from these initiatives can be brought into the accelerator if there is capacity.
This includes with ERA4Health, ERC, Horizon Europe Health Work programme and national funding
initiatives. During JTC calls information sessions will be integrated in the call publication strategy, as
well as monitoring process of JTC projects to ensure all applicants and principal investigators are fully
aware of the requirements for further therapeutical development and the opportunities provided by the
Acceleration Hub, Expertise Hub, and infrastructures. Annual meetings will be organized in liaison
with JTC and monitoring WPs to identify JTC projects with potential for development into new
intervention. Close collaboration with all WP22 partners will be sought for the selection of projects,
with structural involvement of patient representatives in the selection process. Contributes to SO1,
SO4, using OO1, OO3, OO5
T22.3. Asset profiling and development (starts M12) TL: EATRIS; Contributors: AFM, FFRD,
EURORDIS, ISCIII. T22.3. aligns with GO:2; SO:1,4; OO:1,3, 5.
Selected projects will receive support defining an IPR, exploitation and patient access strategy,
designing a critical path to proof of concept including stage gates and milestones, seeking funding for
technical development. No activity is planned for Year 1.
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T22.4. Matchmaking and marketing (start M18) TL: FFRD; Contributors: AFM, EATRIS. T22.4.
aligns with GO:2; SO:1, 4,5; OO:1,3,5.
Regular interactions with pharma and other potential funders will be scheduled to pitch projects and
facilitate discussions and negotiations. No activity is planned for Year 1.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 23 Start Date or Starting Event M1: September 2024
Number
Set of Activities NMG promotion and national alignment
Title
Short name of INSERM UNEW* CCUH UTARTU CCRI ISCIII VULSK
participant & (No) (1) (170) (31) (9) GmbH (72) (27)
(42)
Person Months 0 12 8 4 4 4 4
Short name of ZonMw INSA MICYRN* INSERM_ MUH TIF IBG
participant & (No) (7) (73) (159) U974 (1) (81) (107) (68)
Person Months 4 4 0 4 4 4 4
Short name of HRB MoH RDG (86) JSI (90)
participant & (No) (67) SR (85)
Person Months 4 4 3 0
Start month M1 End month M12
*Associated partners providing in-kind contribution
State of the art behind this WP
The implementation of National Mirror Groups (NMGs) has been initiated under the EJP RD lifetime
to facilitate the gathering of RD stakeholders at national level and form a link with activities and plans
being delivered by large European consortia dedicated to RD. The added value of such groups has
been identified through past projects and initiatives, in particular those highlighting the need to revive
national commitments to RD. The first foresight study for RDs, Rare 2030, identified the fundamental
need for ‘A new EU policy framework for RD guaranteeing that RDs remain a public health priority
through concerted European actions and guiding the implementation of long-term national plans and
policies across all countries in Europe’. Rare 0 0 also included several recommendations specifically
around the need for greater connectivity and alignment of what happens at the national and European
level, with enhanced opportunity for identifying and sharing good practices which are being employed
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in some places and could be translated to other national settings. The final project recommendations
specifically mention the need to create more NMG, as a way to achieve this greater alignment. This is
viewed as an important means of stimulating renewed national focus on maintaining dynamic and
robust national plans for RD which has proved challenging for many European countries. NMGs also
hold great potential to align national activities with the IRDiRC goals.
Developing and maintaining the functioning of the NMGs was a key component of the EJP RD T2.5.
“Translation/impact of prioritization on national and EU strategies”. Four EJP RD NMGs has been set
up in Netherlands, Portugal, France, and the United Kingdom by the start of Year 2023. The
establishment of new NMGs in the beneficiary countries has continued during the first half of 2023
and will remain a priority until the end of EJP RD lifetime in August 2024, so that as many EJPRD
beneficiary countries as possible can benefit from a NMG (or a similar group) at the start of the
ERDERA.
Methodology
Building NMG-ERDERA working relationships: Small group interactions will enable dedicated
discussions between existing/future NMGs and the WP23 team, to better understand needs and
expectations, which will be reflected in core outputs such as criteria and regular progress discussions.
Surveys and Questionnaires: A questionnaire will be co-developed with NMG input, to collect
comparable semi-structured information (a mixture of quantitative and qualitative data) on national
RD activities. A short separate survey will collect data related to KPIs agreed for the NMGs. This data
will enable comparisons between countries, status quo assessments across countries under the
ERDERA reach, as well as a longitudinal trend analysis.
Central to our methodology will be the organisation of a range of events, involving different actors
with different goals. Three main levels are envisaged:
• Annual meetings of each full NMG: These will be overseen by the NMGs themselves, with
WP23 input and support to agenda-setting (insofar as this is beneficial to ensure NMGs can
meet the new agreed criteria – national needs and competences will be respected).
• Annual meetings of NMG representatives: These will be organised by this WP and will
allow for a sharing of NMG experience and cross-fertilisation of expertise, in which
achievements and good practices relevant to a range of countries will be presented. Needs and
opportunities exchanged in these annual meetings will feed back into the following year’s
activity, to ensure a continuous cycle of reflection and improvement to task delivery.
• Annual workshops focusing on key topics: These will be co-creative interactive involving
representatives of NMGs and ERDERA experts, intended to generate new knowledge and
explore how to optimise synergies for greater alignment.
• Delphi or mini Delphi methodology will be used to create valuable documents: Best
practice guidelines for NMG creation and promotion and recommendations for sustainability
of NMGs.
• Collaboration is needed with other ERDERA WPs:
o Other WPs on the Workstream on (Inter)national Capacity alignment: A specific
collaboration work is expected and foreseen with the W “Fostering engagement
of underrepresented countries in ERDERA”. WP24 leaders and contributors will use
their knowledge of their RD community to help for the development of the NMGs
within the different underrepresented countries. Besides, the NMGs will be an
important tool that could help to understand the underrepresented countries’ specific
needs, foreseen in the WP24.
o Workstream on Education and Training in RD Research
o WP Communication
o WP Monitoring of ERDERA activities
Objectives
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The main objective of this WP is to ensure the alignment of European and national RD research policies
and activities by supporting, during the Year 1, the deployment and the operations of NMGs in all
participating countries.
A NMG is a group created – or designated - in each country benefiting from the ERDERA to bring
together the expertise and knowledge of the RD community of a specific country. The objectives of a
RDs NMG are, on one hand, to identify national needs that should be discussed and addressed, if
possible, within the framework of the ERDERA activities and, on the other hand, to promote national
alignment with the European RD research strategy. In addition, the lessons learned, and good practices
collected by each country are shared with the others. In this way, the activities of the ERDERA are
more readily informed and shaped by heterogenous national needs and realities, whilst the tools, assets
and approaches developed under the ERDERA (and EJP RD before it) are implemented more at
national level, to advance RD research and innovation for all stakeholders. NMGs will help to align
project activities with national policies and regulations. Additionally, NMGs can play a crucial role in
advocating for necessary policy changes or improvements. By bringing together influential
stakeholders and experts, NMGs can collectively identify policy gaps and advocate for reforms that
would create a more favourable environment for the project's success. They can advocate for necessary
policy changes to create an enabling environment for the project's success.
Specific objectives for the Year 1:
• Encourage and support the creation of NMGs in each country participating to the ERDERA
and maintain them over time.
• Define and support activities under the responsibility of the NMGs.
• Develop networking and communication between the NMGs, fostering the opportunity for
identification and sharing of good practices, feeding national needs and priorities into the
ERDERA, and bridging the gap between national and European/international level activities.
This W will, in particular, contributes to G 1 “Diagnosis established or enrolment in systematic
research in average within 6 months after coming to medical attention”, the G “1000 new therapies
for RDs approved”, the G “Better understanding of the impact of RDs on patients, families and
society”, and will advance SO on the establishment of an “integrated multinational and multi-
stakeholder R&I ecosystem for RDs” OO on “Coordination and alignment of European,
(inter)national and regional research strategy and resources”, and OO on “Multi-stakeholder
collaboration”.
Description of Programmed Activities
T23.1. Fostering creation of NMGs (M1-M12) TL: INSERM_IT-GGB; Contributors: ISCIII,
UNEW*, CCRI GmbH, UTARTU, IBG, CCUH, Inserm_U974, MUH, TIF, MICYRN*, VULSK,
ZonMw, INSA, HRB, MoH SR, RDG, JSI, UO. T23.1. aligns with GO:1-3, SO:5, OO:3.
ST23.1.1. Development of NMG models and guidelines
Setting up NMGs in each ERDERA beneficiary country first requires the development of specific
guidelines and different models that can offer various alternatives to countries embarking on the
process of developing NMGs. Indeed, the experience of the EJP RD has shown us that each beneficiary
country has its own specificities, both in terms of structure (centralized organization/federal
organization for example), and in terms of national organization and the state of the art in RD research.
Taking these differences into account is essential as each NMG has represent the RD community in its
own country. In Year 1, the first task of the TL and the partners will be to develop, in the first four
months of the project, several models of NMGs, based on the study of the national groups set up during
the lifetime of EJP RD. These different models, which will differ in several aspects (size of the NMG,
spectrum of stakeholders to be involved, organization scheme to be adopted, etc.), will be used on the
NMGs development process on the T23.1.2. Several criteria are foreseen:
• NMGs must bring together the national representatives of all relevant RD stakeholders of a
country (as described in ST23.1.2).
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• Each NMG must choose a leader/contact point among the representatives' organisations that
constitutes the group in order to ensure the contact with WP23 leaders, with others NMGs and
to ensure the smooth implementation of the activities foreseen (as described in T23.2.). This
national contact point must be a beneficiary organisation of the ERDERA.
• NMGs must respect a wide geographical representation of their country.
ST23.1.2. Developing & maintaining NMGs through a national multi-stakeholder engagement
The objective of this task is to have an NMG established in each beneficiary country of the ERDERA
by the middle of Year 2 of the project (M18). During Year 1, the NMGs will be set up and supported
to organize coordinated interaction between the Partnership and national and regional stakeholders.
They will catalyse the transfer of good practices to the national and regional level. As NMGs will serve
as intermediates between the Partnership and national and regional stakeholders in the field of RDs,
they need to bring together the national representatives of the ERDERA and other relevant RD
stakeholders from their country: Research institutes, National Alliances, Patient organisations,
national/local authorities, funding agencies, hospitals, health care partners (affiliated or not with the
ERNs) members of the ERDERA Policy Board & Governing Board. NMGs models and guidelines
developed on the T23.1.1. will be shared with the national stakeholders involved in the NMG
development process, proposing several configurations to ensure optimum inclusion of multiple
stakeholders within a functional group. The development of these NMGs will also consider the
presence (or absence) of existing national RD groups in order not to duplicate efforts and to collaborate
with experienced local and national actors.
Rare Diseases NMGs are expected to last over time and operate efficiently over the long term, having
important responsibilities, described in task 23.2. Each NMG will be piloted by a manager who can
ensure the proper functioning of the NMG and who can be the intermediary with the coordination
team, the WP, and TLs and with the managers of the other NMGs, to ensure that the objectives set for
each NMG can be/are achieved. The objective of this task for the Year 1 of the ERDERA (M1-M12)
is to develop a NMG in at least 75% of ERDERA beneficiary countries.
It is expected that the following countries will have an operational NMG built by the start of the
ERDERA: Austria, Belgium, Canada, Cyprus, Czech Republic, Estonia, France, Ireland, Latvia,
Lithuania, The Netherlands, Portugal, Slovakia, Spain, Türkiye, and United Kingdom.
The development of NMGs in the following countries is scheduled to take place in the Year 1.
These countries should therefore have an operational NMG by September 2025: Australia, Belgium,
Bulgaria, Denmark, Finland, Georgia, Germany, Greece, Hungary, Iceland, Israel, Italy, Luxembourg,
Malta, Morocco, New Zealand, Norway, Poland, Romania, Serbia, Slovenia, Sweden, Switzerland.
T23.2. Deployment and operation of NMGs (M1-M12) TL: UNEW*; Contributor: INSERM_IT-
GGB; ISCIII; CCRI GmbH, UTARTU, IBG, CCUH, INSERM_U974, MUH, TIF, MICYRN*, VULSK,
ZonMw, INSA, HRB, MoH SR, RDG, JSI, UO. T23.2. aligns with GO:1-3; SO:4,5; OO:3,4.
This task will contribute to the G 1 “Diagnosis established or enrolment in systematic research in
average within 6 months after coming to medical attention”, the G “1000 new therapies for RDs
approved”, the G “Better understanding of the impact of RDs on patients, families and society”, to
the S “Increased capacity and skills of RD stakeholders to optimize research to healthcare
continuum”, the Specific bjective S “Integrated multinational and multi-stakeholder Research &
Innovation ecosystem for Rare Diseases”, the perational bjective “Coordination and
alignment of European, (inter)national and regional research strategies and resources" and the
perational bjective “Training and education (of RD stakeholders).
ST23.2.1. NMG Responsibilities
As new NMGs are created, linked to ERDERA beneficiaries, they will be required to fulfil a number
of core activities each year in order to ensure the best collaboration possible with ERDERA. These
will be clustered around three categories:
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• Activating and operationalising a national-level community engaged in RD research (for
instance through regular communications and meetings): The NMGs should contribute to the
support of alignment and integration of national capacities into the Partnership. NMGs should
also encourage the development and the promotion of National RDs plans/strategies.
• Feeding national needs and realities into ERDERA meetings and activities, to optimise the
relevance of the ERDERA outputs;
• Taking active steps to align national-level research resources, infrastructures and approaches
to those being developed and disseminated under the ERDERA; and providing data on national
activity and NMG progress.
The expected responsibilities of each NMGs can be detailed as the following:
1. To create and write a three-year plan based on current needs and interests of particular country
in which fields NMG has to work more actively, where to pay more attention (for example,
encourage colleagues for more active usage of Orpha codes, embolden to create new patient
organizations for certain disorders): this plan must be updated every year. This plan is expected
to consider the national-level community engaged in the ERDERA, as do the national
stakeholders that are not part of it.
2. Every year each NMG must complete surveys organized by WP leaders as well as self-
evaluation form, naming all activities performed during the past year.
3. Each NMG should organize, regarding of the specific national needs, at least once per year
face to face local meeting, including educational session.
4. Representative from each NMG (likely the contact point described in task 23.1.2) should take
part in the National Alignment Board annual meeting as indicated in T23.3.1
5. NMGs members must participate in workshop described in T23.3.2 and later are responsible
for knowledge dissemination among members of NMGs.
6. NMG must be actively involved in promotion of National RDs plan as far as it is possible.
Preferably national policy makers should be part of NMGs. In case it cannot happen, NMGs
should interact with government and in the frame of their possibilities facilitate plan writing
and execution.
7. At least one representative from each NMG must be interactive and communicative with other
NMGs sharing their local experience and gaining knowledge from others using platform
described in T23.3.2.
8. Local NMG representatives should be aware of ERDERA activities and be capable to
disseminate information among group members which are less actively involved for e.g. policy
makers. And on the other hand board member must be capable to present specific local
capabilities which may serve in the interests of partnership which main goal is to improve care
of RD patients.
During Year 1, the already developed NMGs will have to endorse these responsibilities.
ST23.2.2. Country-Specific bidirectional Engagement
Based upon the criteria guidance agreed in task 1, regular internal communication meetings (online
meetings every 3 months) will be organised within each NMG leadership team, to support the
alignment with the ERDERA activities. These will fit under a number of headings (e.g. national RD
research programmes, clinical research capacities, large data infrastructures relating to registries and
biobanks, diagnostics structures/databases, socially oriented research, etc.). These meetings will,
where appropriate, involve representatives of other ERDERA WPs, to unite topic experts from the
ERDERA with NMG leads and offer advice or support with aligning national systems or structures
more with the tools and approaches being deployed by ERDERA. These calls will also be opportunities
for the ERDERA task Leads to learn more about national needs and priorities and identify successful
and/or innovative approaches to addressing particular RD research challenges. They will share the
results of any national-level mapping of networks or hubs which could bring value to the ERDERA
but are not yet included in ERNs – and, in the case of those from countries not eligible for formal ERN
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engagement, this intelligence-gathering could support collaboration of researchers from outside of the
EU/EEA, complimenting efforts already underway to enable this. An important added value of the
NMGs is their potential to contribute to the maintenance of robust, in-date national plans or strategies
for RD: in many countries, following the expiry of a time-bound plan, there is no prompt evaluation
of the impact of the original policies, and no follow-up plan is adopted. The engagement of the
ERDERA with NMGs through this task will therefore seek to encourage and embed good practices in
this regard, as far as this can be influenced by the NMGs. Starting from Year 1, regular meetings,
taking place every three months, will be set-up within the leadership team of each NMG to support the
alignment of national and RD P activities. Particularly in Year 1 of the project, these meetings will be
an opportunity for task leads to gain information about each NMG’s national activities. Representatives
from other WPs will be invited to attend these meetings, where appropriate, to help in shaping the
three-year plans whilst offering advice and support on aligning with different ERDERA activities,
resources, and tools. It is important to do this early in the project to ensure resources being developed
within the ERDERA meet the needs of the NMGs.
ST23.2.3. Country Data Collection
The emergence of a greater number of NMGs and prospective NMGs offers an excellent opportunity
to collect rich data on national activities of relevance to RD. This will help to understand the national
status quo but also allow for comparisons between countries. A questionnaire will be redesigned (using
the old Resource on the State of the Art of RD Activities in Europe) as a guide, which captures not
only relevant national activity but also international collaborations. (This could be a means of
continuing some of the work conducted under WP2 of the EJP RD, and would also be a new home for
the ‘State of the Art Resource’ (which has not had a home since Rare 0 0). Associated outputs will
be a dedicated annual report for each country participating to the ERDERA (in the case of those with
NMGs, UNEW would ask leads to provide this data – ensuring a multistakeholder composition: for
those without, UNEW would use existing contacts from the ‘State of the Art Resource’ and EJ RD
WP2 team to request data nonetheless, for completeness). Synergies with Polaris platform will be
ensured to avoid any duplication of data collection. Data collected by the NMGs about the state of
each country in the field of RDs must be compliant with the KPIs of the ERDERA: it is expected from
the NMGs leaders to provide information regarding the undiagnosed programs, the policy changes or
initiatives at local and national levels aiming at addressing the impact of RDs on patient, families, and
society.
In Year 1, those questionnaires will be developed by the TLs. Beginning in M6 of the project, task
leads and beneficiaries will design and pilot a questionnaire, using the questionnaire utilized for the
‘Resource on the State of the Art of RD Activities in Europe’ as a guide. The purpose of this survey
will be to capture relevant national activity, as well as international collaborations, to support more
effective NMG operations and support inter-NMG activities for task 23.3 When developing the survey,
task leads will look at synergies with the Polaris platform to avoid duplication. A first round of
collecting national data reports will be organised by M12.
ST23.2.4. Trainings activities through the ‘Train the trainer model’
This sub-task is foreseen thanks to a collaboration work with the ERDERA Workstream ‘Education &
training activities’ and is planned to start during Year . A series of training activities for national
stakeholders is planned as part of this subtask topics of the training activities will be drawn up in
collaboration with the various National Mirror Groups to best meet their needs.
T23.3. Animation of NMGs synergies (M6-M12) TL: UNEW*, CCUH; Contributors: INSERM_IT-
GGB, UTARTU, CCRI GmbH, ISCIII, VULSK, ZonMw, INSA, MICYRN*, INSERM_U974, MUH, TIF,
IBG, HRB, MoH SR, RDG, JSI, UO. T23.3. aligns with GO:1-3; SO:5; OO:3,5.
ST23.3.1. National Alignment Board during the annual International NMG meeting
Representatives of NMGs will be key participants to the annual meeting of the National Alignment
Board (NAB), held likely back-to-back with the annual General Assembly. This International NMG
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meeting will also involve representatives (ideally from Competent National Authorities or key
Research funding institutions, with some oversight of RD research activity in their country) to attend,
whilst we await ‘formal’ creation of NMGs. As described in the ‘Governance’ section, the NAB will
be composed of Representatives of each National Mirror Groups and Representatives of the European
Commission Directorates: DG Research & Innovation, DG Joint Research Centre (JRC), DG SANTE,
DG CNECT. A chair will be selected by and within the member of the NAB. Its role will be to ensure
that national/EU activities, strategies and needs are considered when taking decisions at the ERDERA
level and when designing the AWPs. In the Annual meeting of the National Alignment Board, NMG
leads will share progress on the creation and operations of NMGs, and steps taken to align national
and ERDERA level activity. This meeting will seek to highlight success stories (where NMGs have
been able to take concrete steps to either shape development of ERDERA tasks or embed ERDERA
learnings or tools into their national level, in some way) and to share good practices. In so doing, WP23
coordination team will take care to consider examples and successes replicable for certain types of
countries e.g. showcase solutions being advanced or explored by small countries, by large countries,
cross-country collaborations (e.g. where countries are working on something as a region). WP23
coordination team will work closely with WP24 on Underrepresented Countries here, to ensure the
particular needs and realities of these nations are represented and solutions can be found for the
additional challenges they might face. During first three annual meetings the best practice guidelines
of creation and promotion of NMGs will be developed, as during partnership NMGs will be created in
ERDERA country beneficiaries. Sustainability is as important as creation of NMGs during annual
meetings starting from year for recommendations for sustainability will be developed, it will include -
identification of sustainable elements for NMGs and actions needed to successful continuation of
active action after end of partnership.
The 1st NMG International meeting will took place during Year 1. In Year 1 of the ERDERA,
participants involved in ST23.3.1 will arrange the first NAB meeting. The purpose of this meeting is
to share progress on the creation and operations of NMGs, showcase alignment of ERDERA and
national activities, highlight success stories and share good practices. The NAB meeting will likely be
held back-to-back with the general assembly, most probably happening on September or October:
collaboration with the coordination team will be required to organize this meeting. Representatives of
NMGs, as identified in T23.1., will form part of the NAB, and will be invited to attend.
Particularly within Year 1 of the project, whilst NMGs are being established, two representatives from
each NMG, (ideally from Competent National Authorities or key Research funding institutions, with
some oversight of RD research activity in their country) will be identified and invited to attend the first
NMG meeting.
Collaboration with WP24 on underrepresented countries will be needed to ensure the particular needs
and realities of these nations are represented. In the first NAB meeting, as well as the following two
meetings, there will be a focus on development of best practice guidelines of creation and promotion
of NMGs. Best practice guidelines for creation and promotion of NMGs will begin to be developed
within the first meeting.
ST23.3.2. Fostering interaction between NMGs, to enhance cross-country collaboration
This task will foster stronger interactions between NMGs –and thus countries- at the ‘topic’ level
(whereas 23.3.1 is more about sharing learnings and progress in developing and mobilising NMGs
broadly, and sharing their views on the ERDERA direction, how the ERDERA can best support them,
etc). WP23 leaders will organise workshops dedicated to topics of key importance for the advancement
and optimisation of RD research, which will be aimed at representatives of NMGs and will also involve
experts leading work related to these topics from within the ERDERA. These will foreseeably include
subjects such as creation/adaptation/federation of national registries for RD, linking national
diagnostics structures with ERDERA resources, optimising CT planning and delivery, national drug
reimbursement programs, NBS etc. The goal will be to make NMGs aware of the latest developments
and assets provided by the RD (allowing the NMG representatives to influence future development of
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these, in view of their needs and own national successes/challenges here) and support countries in
making their own approaches and infrastructures and systems more ‘ERDERA-compatible’. These
workshops will largely be about generating new knowledge and will therefore be a key means of
fostering tangible alignment between national and European activity, as opposed to imparting
established training. In planning and delivering each workshop, the needs and voices of different types
of countries will be considered, avoiding a ‘one-size-fits-all' approach (close collaboration will be
ensured with WP24.) One face-to-face workshop per year will be organised, with the option to hold an
additional virtual workshop each year. The focus of these will be agreed each year by the NMG leads
attending the National Alignment Board. Within ST23.3.2, it is foreseen that in each year of the project,
a workshop will be developed on topics of key importance for the advancement and optimization of
RD research.
In Year 1, most probably in May, the first face-to-face workshop will be developed and organized by
sub-task leads. The organization will include identifying a suitable venue for the workshop and inviting
attendees, who will be NMG representatives. The topic of the workshop will be agreed by existing
NMG leads via choosing the best probable topic offered in survey by WP leads. Close collaboration
with WP24 and other WPs will be needed to develop the agenda for the workshop, to ensure the raising
of awareness of the latest developments and assets provided by the ERDERA. In addition to the in-
person workshops, participants in this sub-task will also explore the potential of developing a further
online workshop.
To achieve best possible results, dynamics, and sustainability of NMGs, but at the same time to
maintain formality and to avoid lack of information and support in between different NMGs, regular
networking is needed. Day-to-day networking on everyday practice will be organized through
multifunctional platforms where information can be stored and shared. Usage of such a platform will
allow collaboration between different NMGs on a weekly or even daily basis. This platform will be
open and accessible to the WPs leaders of the ERDERA and will be at the centre of exchanges between
all these stakeholders: the representatives of the NMGs will be able to call on the WPs leaders to
strengthen the alignment of their countries on specific topics, and the WPs leaders will have easy
access to the data provided by the countries and to their national expertise. This approach would also
be important to exchange experience and knowledge of some subgroups of NMGs as for example from
small countries or regional specificities.
Using available ERDERA platforms, this platform and communication channels will be developed
during the Year 1 to allow networking between NMGs and the consortium and the sharing and storing
of information between NMGs on a daily and weekly basis. This will help to allow the sharing of best
practices.
ST23.3.3. Sharing achievements of NMGs.
During the first three years of partnership using the outputs of T23.2.3, an overview report will be
developed every year, arranged by topic (e.g. showcasing the situation and trends around live national
plans for RD, national registries for RD, etc) During Year 1, three annual reports will be produced, to
summarise key achievements across NMGs, illustrating development of NMGs, providing examples
of key activities and successes, and generally publicising the data collected in Task 23.2.4 as above.
During Year four to seven based on collected information and achievements at two peer-reviewed
publications in open access journals will be published during project with a purpose to reach out more
health care specialists, for example GPs, clinical specialists, and scientists from other fields. As well
as four overview reports will be developed, and four annual reports will be published on website
regarding ongoing activities and collaborations of NMGs. Suitable communication channels will be
explored, in collaboration with WP2, to publicise national plans externally. The first annual overview
report will be developed in Year 1, using the outputs of T23.2 and T23.3, to highlight the key
achievements across NMGs, development of NMGs, provide examples of key activities and successes,
and publicise data collected in T23.2.4.
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Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 24 Start Date or Starting M1: September 2024
Number Event
Set of Activities Fostering engagement of underrepresented countries in ERDERA
Title
Short name of AICIB REUH FFRD RDB RIF (94) ZonMw EUROR
participant & (No) (32) (93) (29) (131) (7) DIS (26)
Person Months 9.87 6.59 2.14 0.71 2.58 2.58 6.43
Short name of RSU TUBITA IBG (68) IMGGE CVBF HRB VULSK
participant & (96) K (108) (33) (50) (67) (27)
(No)
Person Months 0.71 2.58 5.3 8.4 3.3 2.58 9.2
Short name of CAU UCD GERAD
participant & (123) (111) (64)
(No)
Person Months 2.14 3.14 3.14
Start month M1 End month M12
State of the art behind this WP
In an increasingly interconnected global Research and Innovation (R&I) landscape, it is of utmost
importance to perceive that Underrepresented Countries (UCs) often face unique challenges when it
comes to participation and contribution on the European and International stage. Despite several
institutional efforts to increase inclusiveness, significant discrepancies between countries’
performances in what respects to R&I are still highlighted in official reports, as the recent Survey
Report from ERA-LEARN Inclusiveness in European R&I Partnership Programme, which points out
the “lack of a systematic approach towards enhancing participation of Widening Countries in the (EU)
Programmes”19. RD field is not an exception, although efforts to increase UCs participation were
undertaken in EJP RD. However, these measures were mainly applied in JTCs (and capacity building
activities), thus limiting its reach, and not solving the problem.
ERDERA intends to have an increased and proactive role in facilitating closing the gap between RDs
R&I high and low performing countries. This is most pertinent if we consider that 20 out of 29
ERDERA participating countries are UCs. Thus, this WP, in close articulation with the other WPs of
the Partnership, is purposely designed to address these inequalities and unlock the potential present
within UCs. The role of the so-called ERDERA high performing countries in this WP is highly
relevant, not only for knowledge exchange and benchmarking exercises but also as facilitators of
inclusiveness.
Methodology
WP24 is fully aligned with the Strategic Research and Innovation Agenda (SRIA) of ERDERA, in
particular with the GO3: Better Understanding of the Impact of RD on Patients, Families and Society;
the SO3: All activities empower, as equal partners, people living with RD; the SO4: Increased capacity
and skills of RD stakeholders to optimise research to healthcare continuum; the SO5: Integrated
multinational and multi-stakeholder R&I ecosystem for RD; and the OO3: Coordination and alignment
of European, (inter)national and regional research strategies and resources.
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The methodology underlying the Tasks (involving various partners/contributors) comprise a
combination of mapping exercises, assessments, knowledge exchange, collaboration with relevant
entities, benchmarking, and the development of guidelines and programmes. The Tasks aim to identify
specific needs and expectations, assess conditions and barriers, establish synergies, undertake
advocacy and awareness-raising actions, identify measures for increasing participation, analyse and
adapt existing measures and guidelines, and explore additional financial support. It will resort to
outputs from previous initiatives, surveys, and relevant findings to inform decision-making and
proposal development. A collaborative and multidisciplinary approach will be implemented (involving
the full spectrum of partners: universities, hospitals, research organizations, patient organizations, and
foundations) to address the challenges and gaps in RD R&I.
Overall, it will be emphasised the processes of data gathering, analysis, collaboration, knowledge
sharing, and the development of practical guidelines and programmes to promote capacity
development, advocate for underrepresented countries, improve participation, and facilitate mobility
opportunities.
Close collaboration is envisaged with other ERDERA workstreams and WPs:
• Other WPs on the Workstream on (Inter)national Capacity Alignment (e.g. WP23: joint efforts
on the unmet needs of UCs through NMGs activities), Workstreams: RD Funding, Education
and Training in RD Research.
• WP1 T1.3. Monitoring of ERDERA activities.
Objectives
The objectives of the WP24 for the Year 1 are:
• Promote transversal, coordinated efforts in mapping capabilities and assets, and capacity
development.
• Build synergies with JARDIN, EURORDIS, HNN3.0 (Health NCPs), NFP4EU (Health
NFPs), and the NCP_WIDERA.NET
• Foster collaboration between UCs and Research & Innovation (R&I) high performing
countries at European level.
• Preliminary measures to boost inclusion of UCs in ERDERA funded projects.
Description of Programmed Activities
T24.1. Promoting capacity development actions (M1-M12) TL: VULSK, REUH; Contributors:
EURORDIS, IBG, CVBF, GERAD, UCD. T24.1. aligns with GO:3, SO:4-5.
In Year 1 of ERDERA, VULSK and REUH will conduct a mapping exercise to identify the specific
needs and expectations, perceived by UCs, limiting their full integration in RD R&I. In particular, the
conditions for their full integration across all ERDERA activities (JTCs, CRNs, Acceleration Hub,
Data Services Hub, Support Services, etc.) will be assessed, with attention to barriers to participation
in CTs. In addition, knowledge exchange and mutual learning exercises will be carried out between
UCs (research actors, patient organisations) to learn from each other and promote the implementation
of activities at the national level to foster participation in ERDERA. This should complement efforts
to coordinate the NMG representatives. Focused engagement with high performing countries in R&I
will be also carried out to integrate their learnings and expertise.
ST24.1.1. Mapping to determine needs and expectations of UCs aligned with ERDERA
workstreams STL: REUH; Contributors: VULSK, EURORDIS, IBG, UCD, GERAD.
Within this ST, a mapping exercise will be conducted, to identify the most pressing needs and
expectations of under-represented countries in ERDERA, including information on current barriers to
participation.
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ST24.1.2. Knowledge exchange, mutual learning exercises and benchmarking with RD high
performers (UC and high-performing countries) STL: VULSK; Contributors: REUH, EURORDIS,
IBG, UCD, GERAD.
Within this ST, interaction activities will be organized and conducted between UCs and high
performing countries, to strengthen UCs’ capabilities and promote their active participation in
ERDERA.
T24.2. Undertaking advocacy and awareness efforts to UCs added value (M1-M12) TL: FFRD,
IBG, CAU; Contributors: EURORDIS, RSU, RDB. T24.2. aligns with GO:3; SO:3,5; OO:3.
This task aims at unlocking the full potential of UCs, to detect latent and unknown RD-related assets
in these countries, additional patient populations and convert it into added value for the ERDERA. In
Year 1 of ERDERA, the measures to identify RDs with particular (geographic) incidence, distinctive
critical mass, and infrastructural resources will be implemented by FFRD, IBG, CAU, and other
contributors, in close collaborations with national entities, NMGs and scientific societies. In addition,
synergies with the JARDIN, EURORDIS, HNN3.0 (Health NCPs), NFP4EU (Health NFPs), and the
NCP_WIDERA.NET will be started to get further support for the identification of UCs added value.
ST24.2.1. Building synergies with JARDIN, EURORDIS, HNN3.0, NFP4EU,
NCP_WIDERA.NET and others Contributors: FFRD, IBG, CAU, EURORDIS, RSU, RDB.
Within this ST, a consolidated interaction effort with networks in the area of Health will be
implemented, in order to share contacts, data, and good practices regarding UCs, avoiding the
duplication of efforts.
ST24.2.2. Identify UC assets, populations, expertise of value to R&I efforts Contributors: FFRD,
IBG, CAU, EURORDIS, RSU, RDB.
Within this ST, information will be collected and presented, detailing UC assets, populations, expertise
of value to R&I efforts (including infographics).
T24.3. Support actions to improve UC participation in all ERDERA activities (M1-M12) TL:
AICIB, IMGGE; Contributors: TUBITAK, RIF, ZonMw, VULSK, EURORDIS, CVBF, HRB. T24.3.
aligns with GO:3; SO:5.
This task aims to identify actions to effectively increase participation of the UCs RD community in
ERDERA, and the funds available for both UCs and ERDERA partners in general. In Year 1 of
ERDERA, AICIB and IMGGE, together with task contributors, will develop guidelines for promoting
the inclusion of UCs in ERDERA funded actions, e.g. JTCs, Networking Calls, and others, in
coordination and dialogue with the workstream leads. The outputs of the needs mapping (ST 24.1.1),
lessons learnt from EJPRD, EURORDIS surveys, and other relevant initiatives will be taken into
consideration, and new measures that may increase UCs participation proposed. Baseline figures will
be established, and targets proposed for levels of participation in these activities. In addition, measures
and guidelines used in the Widening programmes (e.g., Twinning, Excellence Hubs, Hop-on) will be
analysed and an adaption of these used in ERDERA activities when appropriate. Moreover, the
possibility to access additional financial support (e.g., EU Widening programmes, structural funds) to
increase UC participation in ERDERA and leverage the available funds will be explored and a proposal
of measures to be implemented will be discussed with ERDERA coordination and the ERDERA
workstream coordinators and will be highlighted to NMGs.
ST24.3.1. Identify actions to increase participation in ERDERA, and targets for participation
STL: AICIB; Contributors: IMGGE, HRB, ZonMw, VULSK, EURORDIS, TUBITAK, RIF.
Within this ST, indications, and recommendations on procedures to be implemented, in order of
increasing UCs participation in ERDERA funded actions, will be developed and presented.
ST24.3.2. Propose measures and guidelines to be implemented in ERDERA to increase UCs
integration and leverage the ERDERA budget STL: AICIB; Contributors: IMGGE, HRB, ZonMw,
VULSK, EURORDIS, TUBITAK, RIF.
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Within this ST, a list of procedures and measures will be developed and presented, to increase UCs
participation in ERDERA and leverage its budget.
Additional deliverables (additional to those included in part B of the proposal)
None
Set of Activities 25 Start Date or Starting M1: September 2024
Number Event
Set of Activities ERDERA Global Collaborations
Title
Short name of IOR (74) SU ZonMw RDI (34) FFRD EUROR ISCIII
participant & (142) (7) (29) DIS (26) (72)
(No)
Person Months 1.0 0.4 3.0 4.0 30 0.4 0.4
Short name of AICIB AUMC ASU-FC HSJD CAU RCC* CIHR*
participant & (32) (20) (39) (150) (123) (162) (153)
(No)
Person Months 0.4 0.4 3.4 2.4 0.4
Short name of CHEO- TEAMIT
participant & RI* (2)
(No) (152)
Person Months 6
Start month M1 End month M12
*Associated partners providing in-kind contribution
State of the art behind this WP
In spite of the significant developments made in the RD field in recent years, it is important to
acknowledge that a substantial portion of the global population, with over 300 million individuals
worldwide living with RDs and more than 30 million RD patients in Europe, continues to confront
unmet needs. This emphasizes the importance of fostering international collaboration in RDs research.
Through collaboration, we can reduce the fragmentation of resources, harness the collective knowledge
and expertise, and facilitate the exchange of information and data, ultimately leading to improved
diagnosis and the development of new and novel treatments. Furthermore, the 2021 United Nation
General Assembly Resolution on “Addressing the challenges of persons living with a RD (PLWRDs)
and their families”20 specifically encourages countries on strengthening international collaboration,
coordinating research efforts, as well as the sharing of data.
In 2011, IRDiRC was established as a pivotal organization, bringing together diverse stakeholders
dedicated to addressing the challenges of RDs research. The Consortium comprises RD research
funders, patient alliances, researchers, clinicians, regulatory scientists, and industry representatives
from Europe, North and Latin America, Africa, Asia, and Australia. With its global reach and
collaborative approach, IRDiRC plays a vital role in driving research efforts within the field by
providing a forum for global RD stakeholders to gather, collectively work under a common vision, and
seize opportunities to advance RD research. In recent years, the IRDiRC Scientific Secretariat (SciSec),
responsible for supporting IRDiRC’s activities and functions, became a part of the EJ RD. This
strategic alignment ensures synergies between IRDiRC and EJP RD, facilitating a coordinated
approach to RD research and innovation. Moving forward, the SciSec will be seamlessly integrated
into ERDERA, amplifying the impact and effectiveness of global collaborative efforts. The integration
of the SciSec into ERDERA will further strengthen the ability of this Partnership to drive
transformative change on a global scale.
The European CRN for RDs will be a new infrastructure developed in ERDERA. Building this new
CRN and collaboration with other CRNs beyond Europe is very important for PLWRDs, as only 5%
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of RDs have therapies, and many PLWRDs are still in need for timely and optimal diagnosis.
Recognizing the existence of similar CRNs and initiatives in various continents, IRDiRC and EJP RD
jointly organized a meeting in December 2022. The purpose of this gathering was to establish
connections and lay the groundwork for an International CRN. This start of collaboration will be
extended in ERDERA. Fostering closer collaboration and aligning research strategies within Europe
among the ERNs and research teams working on RD presents another opportunity to alleviate
fragmentation of budget and enhance knowledge and expertise. As ERNs are important actors in
clinical research, ERDERA will enable discussions and cross-talks between ERNs on their research
strategies and will encourage the discussions with other ERDERA stakeholders to create mutual benefit
in aligning research strategies.
In addition, aligning capacity building and education activities will contribute to the objective of
supporting a new generation of young scientists to continue the drive in R&I in RDs. Creating avenues
for shared learning, exchanging best practices, and fostering interdisciplinary collaboration will lead
to improved research outcomes and a more cohesive RD research community across Europe and around
the world.
By supporting the SciSec, creating global strategic alliances, establishing the CRN, and promoting
collaboration among universities, ERNs, and other stakeholders, ERDERA aims to create synergies,
streamline efforts, and foster a culture of cooperation in the RD research landscape that transcends
geographical boundaries. These initiatives will enable the pooling of resources, knowledge, and
expertise, ultimately accelerating research advancements and benefiting patients worldwide.
Methodology
• Patient-centred approaches: Involving patient representatives in the discussion and shared
decision-making process to ensure that their voice and perspectives are prioritized in the
shaping of alliances and collaborations.
• Establishing Working Groups: Forming working groups composed of experts from different
countries that can facilitate collaboration, knowledge exchange, and implement joint events or
research efforts. These groups can focus on specific themes or topics (e.g. Mapping of potential
strategic partners and already existing university alliances, Mapping of funding research
priorities, Mapping of RD CTs, etc.) enabling the pooling of expertise and resources globally.
• Creating the ERN Living lab: A platform/discussion forum for cross-fertilization between
ERNs and researchers and clinical experts.
• Establish International Strategic Alliances: Creating strategic alliances through MoU or
Partnership agreements with European and global programs, projects, initiatives, universities,
and patient organizations. Such alliances enable the sharing of vision, expertise, and
infrastructure towards joint research endeavours.
• Workshops and Conferences: Organizing joint workshops and conferences with IRDiRC can
bring together researchers, clinicians, patients and families, industry representatives, and other
stakeholders from different countries. These events can provide opportunities for networking,
discussing research findings, and identifying potential collaborative projects. Participation to
strategic academic or learned societies meetings may provide as channels to raise awareness
and attract collaborations.
• Alignment with IRDiRC Activities: Leveraging existing IRDiRC platforms and activities,
such as task forces and working groups, can help synchronize efforts and streamline
collaborative projects.
•
Collaborations needed with other activities in ERDERA are:
• Workstream on Funding
• Workstream on CRN
• WP2 Communication
• WP20 Education and Training in RD Research
Objectives
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The main objective of this WP is to foster international collaboration and to align and promote research
among international RD research stakeholders.
Specific objectives for Year 1:
• Initial mapping of potential international strategic alliances.
• Building a dedicated Working Group to help with identifying additional international strategic
alliances.
• Preparation of model MoUs and Partnership agreements.
• Facilitating a smooth transition between INSERM and FFRD regarding the coordination of
the SciSec and ensuring the fulfilment of IRDiRC's needs and requests from the various
bodies.
• Gather materials and outputs from the first International CRN Conference and develop
potential themes based on recommendation of the IRDiRC CRN Task Force. Engage and
liaise external stakeholders in the USA who expressed interest to organise a CRN Conference
during Year 1.
• Dissemination of ERDERA to ERN members.
• Build the governance of the ERN Living Lab and identification of stakeholders.
Description of Programmed Activities
T25.1. Strategic Alliances (M1-M12) TL: INSERM_IT-GGB, SU, ZonMw; Contributors: RCC*,
CIHR*, RDI, EURORDIS, FFRD, ISCIII, AICIB, CAU, AUMC, ASU-FC, HSJD. T25.1. aligns with
GO:1-3; SO:4,5; OO:2,3,5.
This task, in collaboration with WP1 and other Partnership WPs, aims to foster effective international
collaboration and maximize outreach of ERDERA results through strategic alliances. To ensure
effective international collaboration, while avoiding overlap with IRDiRC activities, the following
actions in Year 1 will be performed to establish strategic alliances with European and global RD
programmes, projects, and initiatives.
ST25.1.1. Research and Mapping of Strategic Partners STL: INSERM_IT-GGB, SU, ZonMw;
Contributors: RCC*, CIHR*, RDI, EURORDIS, FFRD, ISCIII, AICIB, CAU, AUMC, ASU-FC, HSJD.
INSERM_IT-GGB will be performing the first screening of potential international strategic alliances
with European and international programs, projects (including EJP RD and ERDERA funded projects
and initiatives) that has not been identified in the SRIA of the Partnership or in the EJP RD. In parallel,
Sorbonne University will be performing the mapping of potential international university partners. In
these screening and mapping activities potential partners will be identified that have a similar mission,
complementary expertise, or shared interests in specific RDs research areas, ensuring diversity in the
research and outreach efforts, and a broad geographical, cultural, and socio-economic inclusivity. The
advantages, benefits, potential risks, and harms associated with establishing alliances and partnerships
will be clearly defined and documented to support decision-making regarding partnerships and
strategic alliances. After the two parallel mappings have been accomplished and the draft document on
advantages/ benefits, etc., has been written, a Working Group composed of the TLs and contributors
will be established to further develop the collated list of identified international strategic partners and
discuss the draft document on advantages/benefits, etc. The contributors have already suggested
many European and international programmes/initiatives in the preparation of this ST that will
be explored further in Year 1 of the Partnership. Also, members of IRDiRC will be contacted for
recommendations.
ST25.1.2. Establishment of Strategic Alliances and Partnerships STL: INSERM_IT-GGB,
Sorbonne university, ZonMw; Contributors: RCC* (Australia), CIHR* (Canada), RDI, EURORDIS,
FFRD, ISCIII, AICIB, CAU, AUMC, ASU-FC, HSJD.
Members of the Working Group will be facilitator and performer of partner matchmaking, identifying
specific topics and opportunities for collaboration with the different ERDERA WPs. These
partnerships will be established through MoUs or Partnership agreements with the support of
INSERM_IT-GGB, in which the shared objectives, responsibilities, resources, and expected outcomes
of the collaboration with the specific partner will be stated. Model MoUs and partnership
agreements will be prepared in Year 1 that can be adjusted dependent on the kind of strategic
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alliances that will be established.
ST25.1.3. Review of progress and outcomes of Established Strategic Alliances and partners STL:
INSERM_IT-GGB, ZonMw, SU; Contributors: RCC*, CIHR*, RDI, EURORDIS, FFRD, ISCIII,
AICIB, CAU, AUMC, ASU-FC, HSJD, UKHD, UT.
INSERM_IT-GGB will provide support to the Working group in organizing regular virtual meetings
to discuss progress, share updates, and address any challenges or opportunities that arise in preparing
and establishing strategic alliances with ERDERA.
T25.2. Support to IRDiRC Scientific Secretariat (M1-M12) TL: FFRD; Contributor: TEAMIT.
T25.2. aligns with GO:1-3; SO:4-5; OO:3,5.
Year 1 will be dedicated to facilitating a smooth transition between INSERM and FFRD regarding the
coordination of the Scientific Secretariat (SciSec). The overall objective of the SciSec will be to ensure
the fulfilment of IRDiRC's needs and requests, assisting various bodies such as the Consortium
Assembly, Constituent Committees, Scientific Committees, Operating Committee, Task Forces, and
Working Groups, optimizing their complementary activities. The SciSec will organize and participate
in bi-weekly meetings with the Chair and Vice Chair of IRDiRC, monthly meetings with the Operating
Committee, and regular meetings (every 1-3 months) with IRDiRC committees. The SciSec will also
organize and coordinate two Consortium Assembly in-person meetings, including a joint meeting with
the Scientific Committees, and online meetings of the Consortium Assembly. The SciSec will support
IRDiRC members in building a new roadmap of activities and facilitate the implementation,
development, and dissemination of these activities. A maximum of four new activities will be
supported by the SciSec. Task Force meetings are organized monthly and involve the active
participation of the SciSec. The SciSec will jointly work with TEAMIT (WP2) to manage the
communication and dissemination of IRDiRC activities through different communication channels
(website and social media). Finally, the SciSec will manage administrative tasks and coordinate
turnover and new membership within IRDiRC and its committees.
T25.3. Promote the International Dimension of the CRN of ERDERA by building global
networks among CRNs and patient organizations (M1-M12) TL: RDI, INSERM_IT-GGB;
Contributors: AICIB, AUMC, c4c-S, UKHD, UT; CHEO-RI*; RCC*. T25.3. aligns with GO:2,3; SO:3-
5; OO:2,3,5.
To pave way to the promotion of European CRN and international networking, RDI and INSERM_IT-
GGB will begin gathering materials and outputs from the first International CRN Conference which
took place in December 2022. The materials include the programme, speakers, participant list,
presentations, and any feedback survey results. The materials will be analysed and form a baseline for
the organisation of the new CRN Conference in ERDERA Year 2. Task contributors will provide a list
of known CRNs from their networks. Additional source of information such as the recommendation of
the IRDiRC CRN Task Force will be considered for developing themes for networking or
matchmaking. RDI will engage and liaise external stakeholders from National Institute of Health
(NIH), USA who expressed interest to organise a CRN Conference during Year 1. If the
organisation of an USA edition of CRN conference will be agreed by external partners, effort will be
made to share information on existing CRNs and take part in scientific programme committee.
T25.4. Alignment with the Research strategies of the European Reference Networks (M1-M12)
TL: ASU-FC, HSJD; Contributor: IOR. T25.4. aligns with GO:3; SO:1,4,5; OO:3-5.
ST25.4.1. Alignment and integration of the strategic research roadmap of the ERNs in the
ERDERA and beyond STL: ASU-FC, HSJD; Contributor: IOR.
The 24 ERNs are the vectors of clinical care and research within the EU. They were created by the
European Commission to facilitate interaction between expert medical teams in all fields of RDs,
sharing of practices and close interaction with patient advocates. In Year 1, all 24 ERN coordinators
will be involved in a smooth transition of the activities performed under the ERICA project (that will
end in early 2025) and a collaborative identification of transversal and disease-specific priorities
emerging by the medical teams, members of the ERNs. Furthermore, the ERDERA priorities will
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be analysed, disseminated, presented, and discussed between the ERN members in Year 1,
aiming to identify common points of actions and the ways, as well as necessary support, to achieve
them.
ST25.4.2. Creation of the ERN Living lab (ERN-LL), a platform for cross-fertilization between
researchers and clinical experts STL: ASU-FC, HSJD; Contributor: IOR.
Involvement of the medical teams of experts already at the front of clinical and fundamental research
within the EU are crucial to the success of the ERDERA aims. In Year 1, a platform "ERN Living
Lab' will be created through building a governance structure (Living Lab Board) and identification of
stakeholders. The Living Lab Board will contribute to the setting of a general outline of plan of actions,
including ensuring a regular communication between the ERNs as networks and the individual experts
in their respective fields, thus facilitating the translation of projects to concrete actions at the service
of the patients.
ST25.4.3. Alignment of the Joint Action for Integration of ERNs (JARDIN) with ERDERA STL:
IOR.
The ERNs also have as a mission to support the development of well-structured national networks for
RDs. The EC funded JARDIN project, to be launched in parallel with ERDERA, offers a unique
opportunity for comprehensive approaches involving both the Member States and medical teams
collaborating with the ERN members. In Year 1, priorities of JARDIN will be identified and their
alignment with ERDERA actions will be discussed between the ERN members.
Additional deliverables (additional to those included in part B of the proposal)
None
References:
1. Solve-RD: www.solve-rd.eu
2. RD-Connect GPAP: https://platform.rd-connect.eu/
3. EGA: https://ega-archive.org/
4. GA4GH: https://www.ga4gh.org/
5. European Joint Programme on Rare Diseases (EJP RD): https://www.ejprarediseases.org/
6. GPAP Cohort module: https://platform.rd-connect.eu/cohortapp/.
7. Kim J, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J
Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9. PMID:
31597037; PMCID: PMC6961983.
8. Aartsma-Rus A. 'N of 1' therapies need a better model. Nat Med. 2021 Jun;27(6):939. doi:
10.1038/s41591-021-01380-z. PMID: 34031602.Synofzik M et al. Preparing n-of-1 Antisense
Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and
Ethical Perspectives. Nucleic Acid Ther. 2022 Apr;32(2):83-94. doi: 10.1089/nat.2021.0039. Epub
2021 Sep 29. PMID: 34591693; PMCID: PMC9058873.
9.Aartsma-Rus A, et al. Development of tailored splice-switching oligonucleotides for progressive
brain disorders in Europe: development, regulation, and implementation considerations. RNA. 2023
Apr;29(4):446-454. doi: 10.1261/rna.079540.122. Epub 2023 Jan 20. PMID: 36669889; PMCID:
PMC 10019362.
10. Rubinstein et al., 2020; https://doi.org/10.1093/jamiaopen/ooaa030
11. Courbier et al., 2019; https://doi.org/10.1186/s13023-019-1123-4
12. Wilkinson et al., 2016; https://doi.org/10.1038/sdata.2016.18
13. Bonino et al.; https://doi.org/10.1162/dint_a_00160
14. van Lin et al. 2021; https://doi.org/10.3233/JND-210721
15. B1MG Proof of Concept on Rare Diseases: https://www.youtube.com/watch?v=6MtIJA4xXdU
16. GDI starter ki: https://gdi.onemilliongenomes.eu/gdi-starter-kit.html
17. Orphanet Orphadata Science: https://www.orphadata.com/orphadata-science/
18. ECRIN EuCos: https://ecrin.org/members-observers
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19. Gębalska, M. et al ( 0 ). Challenges of Widening countries in the Creation and Implementation
of the European Partnerships. Brussels: ERA-LEARN: https://www.era-learn.eu/documents/era-learn-
report_challenges-of-widening-countries_eps_survey.pdf
0. 0 1 United Nation General Assembly Resolution on “Addressing the challenges of persons living
with a RD (PLWRDs) and their families”: https://digitallibrary.un.org/record/3953832
2.1.3.2. List of programmed activities
Table 2.3.b: AWP Set of Activities
Activity Activity Short name of Person- Start End
No. Title lead participant Months Month month
and (No.)
WP1 Coordination & Management INSERM 90 M1 M12
Communication & Teamit 30 M1 M12
dissemination
WP2
Communication & INSERM M1 M12
dissemination
Joint Transnational Calls for ANR (4) 3.25 M1 M12
collaborative research projects
WP3
Joint Transnational Calls for DLR (3) 14.75 M1 M12
collaborative research projects
Clinical trial call management FTELE (5) 1.6 M1 M12
WP4
Clinical trial call management DLR (3) 1 M1 M12
Networking to share 1.25 M1 M12
LMT (6)
knowledge on research
WP5
Networking to share 2.00 M1 M12
ZonMw (7)
knowledge on research
Diagnostic Data Availability UT (8) 27 M1 M12
WP6 Diagnostic Data Availability UTartu (9) 24 M1 M12
Diagnostic Data Availability CNAG (10) 15 M1 M12
Genome re-analysis research CNAG (10) 27 M1 M12
pipeline
WP7
Genome re-analysis research SRUMC (11) 33 M1 M12
pipeline
Genomic innovation to shorten SRUMC (11) 24 M1 M12
time to diagnosis
WP8
Genomic innovation to shorten TUM (12) 21 M1 M12
time to diagnosis
Real World Data UKHD (13) 50 M1 M12
WP9
Real World Data C-Path (14) 24 M1 M12
Clinical Outcome Assessment ICS-VHIR (15) 21 M1 M12
WP10
Clinical Outcome Assessment UKHD (13) 21 M1 M12
ATMPs INSERM ART- M1 M12
WP11
ARNm (1)
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ATMPs UKHD (13) 9 M1 M12
N-of-Few Approach LUMC (16) 6 M1 M12
WP12
Rare Disease Virtual Platform INSERM_Orphane 8.62 M1 M12
(RD-VP) finding and accessing t (1)
the data ecosystem
WP13
Rare Disease Virtual Platform INSERM_Orphane 13.28 M1 M12
(RD-VP) finding and accessing t (1)
the data ecosystem
Data readiness services LUMC (16) 8 M1 M12
WP14
Data readiness services UPM (18) 9 M1 M12
Data sharing and analysis UMCG (19) 26 M1 M12
services
WP15
Data sharing and analysis CNAG (10) 13.5 M1 M12
services
Knowledge bases and AUMC (20) 10 M1 M12
ontologies for RD research
WP16
Knowledge bases and UM (21) 12 M1 M12
ontologies for RD research
Initiation of Mentoring process EATRIS (22) 11 M1 M12
and feasibility study for
consultancy services
WP17
Initiation of Mentoring process FGB (23) 3 M1 M12
and feasibility study for
consultancy services
Regulatory support service FGB (23) 20 M1 M12
WP18 Regulatory support service EATRIS (22) 14 M1 M12
Regulatory support service Pfizer* (161) 1 M1 M12
Methodological support APHP (24) 12 M1 M12
WP19
Methodological support UHASSELT (25) 12 M1 M12
Education and Training on RD EURORDIS (26) 21.4 M1 M12
Research
WP20
Education and Training on RD VULSK (27) 14 M1 M12
Research
Technology accelerator UC (28) 19.08 M1 M12
WP21
Technology accelerator Pfizer* (163) 3.80 M1 M12
Public-private collaboration FFRD (29) 12 M1 M12
accelerator
WP22
Public-private collaboration AFM (30) 12 M1 M12
accelerator
NMG promotion and national INSERM (1) 0 M1 M12
alignment
NMG promotion and national CCUH (31) 8 M1 M12
WP23
alignment
NMG promotion and national UNEW (85) 12 M1 M12
alignment
Fostering engagement of AICIB (32) 9.87 M1 M12
WP24 underrepresented countries in
ERDERA
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Fostering engagement of IMGGE (33) M1 M12
underrepresented countries in
ERDERA
ERDERA Global ZonMw (7) 3 M1 M12
Collaborations
WP25
ERDERA Global RDI (34) 4 M1 M12
Collaborations
626
2.1.3.3. List of annual deliverables
Table 2.3.c: List of Additional Deliverables (additional to those included in AWP of the proposal)
Deliverab Deliverable Activity Lead Type Disseminatio Deliver
le No Name No. Participant n Level y Date
Short Name &
(No.)
D4.1 Other documents WP4 FTELE (5) R SEN Within
related to CT call text Year 1
and procedures.
D6.1 - D6.6 Report on Data WP6 UT (8) R PU M6
Availability Committee
establishment and
organigram
List of standards and WP6 UT (8) R PU M6
minimum quality
criteria for data
submission
List of prioritised WP6 UT (8) R PU M12
submitting centres,
including early
adopters of the
federated approach
Identification of WP6 UT (8) R PU M3
additional requirements
and needs of the CRN
Diagnostic Research
workstream to be
developed in Data
Management System
10,000 harmonised WP6 UT (8) OTHE PU M12
datasets from R
centralised and/or
federated approaches
available in the CRN
Diagnostic Research
Ecosystem
Data collation toolkit WP6 UT (8) OTHE PU M3
R
D10.1 - 10.3 Design of respective WP10 ICS-VHIR (15), R PU M12
input method UKHD (13)
(structured interview,
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focus group, survey)
completed and pilot
tested
Top-ranked CAOs for WP10 ICS-VHIR (15), R PU M12
further validation UKHD (13)
selected for each target
disease
Regulatory strategy for WP10 ICS-VHIR (15), R PU M12
each target disease UKHD (13)
established
D15.1 - 15.2 Draft proposal for the WP15 UPM(18), OTHE PU M12
application of federated CNAG(10), R
data processing and UMCG(19)
analysis services in
ERDERA.
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2.2. Participation in Annual Work Programme activities
1-INSERM
Name of the legal entity INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
Expertise, available infrastructure(s)
INSERM is the coordinator of the European Joint Programme on Rare Diseases and will be the
coordinator of ERDERA. INSERM has strongly contributed to the development of tools on the virtual
platform through the Orphanet services. INSERM is the major actor in the implementation of the French
genomic medicine initiative analysis platform and will provide federative access to rare disease genomic
data through Inserm-CAD. INSERM will also co-leads tasks related to the development and
dissemination of Clinical Utility tools based on the expertise developed through its contribution in EU
Solve-RD project. It has also highly experienced staff and state-of-the-art equipment for the design and
production of mRNA and target delivery that will be a major asset for the development of innovative
treatments based on mRNA nanoparticles. INSERM will also contribute to the design of novel clinical
trials through the recognized methodological expertise in digital health and adaptative clinical trial
designs. Hélène Dollfus, MD-PhD (U1112), has strongly contributed to the development of ERN and in
particular the ERN-EYE. She will bring her expertise in medical and functional genomics.
Main tasks in the project:
Team IT-GGB:
Coordinator
Leader: WP1.0; Task1.1; Task1.2; Task11.3; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2;
SubTask23.1.3; Task25.1; Task25.3;
Contributor: Task1.3; Task1.4; Task1.5; Task2.1; Task2.2; Task2.3; Task23.2; SubTask23.2.1; SubTask23.2.2;
SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2; SubTask23.3.3;
Team ART-ARNm
Leader: WP11.0; Task11.3; Task21.3;
Contributor: Task11.2; Task11.4; WP21.0; Task21.2;
Team CAD
Leader: Task6.2; Task7.2; Task15.2;
Contributor: WP6.0; Task6.3; WP7.0; Task7.1; Task7.4; Task15.3;
Team Orphanet
Leader: WP13.0; Task13.1; Task16.1; Task16.2; Task16.5;
Contributor: Task7.2; Task13.2;
Team Target (Nantes)
Contributor: WP21.0; Task21.1; Task21.5;
Team U1138
Leader: Task19.1; Task19.2;
Contributor: Task9.5;
Team U974
Leader: Task7.4; Task16.3;
Contributor: WP7.0; Task7.1; Task7.2; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3;
Task23.2; SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1;
SubTask23.3.2; SubTask23.3.3;
Team U1112 (UNISTRA)
Contributor: Task6.2; Task6.3; Task7.1; Task7.3; Task9.4;
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2 - TEAMIT
Name of the legal entity TEAM - IT RESEARCH SL
Expertise, available infrastructure(s)
Teamit Research (TEAMIT) is a research management organisation, building strong public-private partnerships
and providing transversal expertise for impactful health science. It aims to empower collaborative research and
innovation for a healthier future.
TEAMIT supports research projects by providing extensive knowledge and experience in the areas of project
and scientific management, communication, multi-stakeholder engagement, regulatory science, real world
evidence, training and education, quality, risk management, sustainability and exploitation. TEAMIT
collaborates with partners from the entire health ecosystem to ideate and implement research and innovation
initiatives. It works with academia, clinical centres, health industry, SMEs, patient and civil society
organisations, regulatory, funding bodies, policy makers, regional and national authorities.
Within ERDERA, TEAMIT will contribute to the Partnership transversal activities (WP1, WP2). Firstly, by
leading WP2 – Communication, it will apply its expertise and experience in driving Communication efforts in
multiple large research projects (IMI EU-PEARL, IMI RESCEU, IMI PROMISE, HE Fibrotarget). TEAMIT
will work to generate awareness on the Partnership, amplify dissemination and acceptance of research outputs,
promote ERDERA’s activities and calls and facilitate stakeholder engagement. Moreover, TEAMIT will
contribute project management support in WP1, by managing the EC reporting process, the elaboration of the
Annual Work Plans and supporting the Governing Board meetings.
Main tasks in the project:
Leader: WP1.0; WP2.0; Task2.1; Task2.2; Task2.3;
Contributor: Task1.1; Task1.2; Task1.3; Task1.4; Task25.2; SubTask25.2.1; SubTask25.2.2; SubTask25.2.3;
3 - DLR
Name of the legal entity DEUTSCHES ZENTRUM FUR LUFT - UND RAUMFAHRT EV
Expertise, available infrastructure(s)
DLR is a non-governmental, non-profit German research organisation. Its Project Management Agency DLR-PT
is mandated by the Federal Ministry of Education and Research (BMBF) and other ministries for
implementation and management of governmental programmes for research funding. On behalf of BMBF, the
“health research” department of DLR-PT has already participated in E-Rare1-3 and EJP RD and managed 4
Joint call secretariats. DLR-PT is also engaged in several other ERA-Nets, JPIs and European Partnerships and
manages a large and growing number of transnational calls, and is serving as call secretariat for many of them.
DLR-PT is currently co-leading Pillar 1 for research funding in EJP RD and is very engaged in the management
of the programme. DLR-PT will co-lead the RD funding workstream and the WPs on joint transnational calls
and clinical trial calls. It will also be responsible for hosting 2 joint call secretariats.
Main tasks in the project:
Leader: WP3.0; Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Task3.3; WP4.0; Task4.1;
Contributor: Task1.3;
4 - ANR
Name of the legal entity AGENCE NATIONALE DE LA RECHERCHE
Expertise, available infrastructure(s)
The French National Research Agency (ANR) was established to fund best basic/applied research, in particular
in the biomedical field, SSH and interdisciplinary research topics linked to health. ANR's mission is also to
strengthen international cooperation by contributing in particular to the funding of international consortia in
partnership with other funding agencies in Europe and beyond. ANR participated in diverse European initiatives
such as ERA-nets, JPIs, Art. 185 etc.... ANR was the coordinator of E-Rare-3 and co WP or task leader under
EJP RD.
ANR will co-lead WP3 on the joint transnational calls and will thus be part of the ExCom. ANR will be in
charge of the task on topic selection as under EJP RD, at least one call secretariat for the JTCs and contribute to
the tasks on the monitoring of projects, patients engagement, NSS activities and support the
communication/dissemination activities.
Main tasks in the project:
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Leader: WP3.0; Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Contributor: Task1.3; Task3.3; Task5.1; Task5.3;
5 - FTELE
Name of the legal entity FONDAZIONE TELETHON ETS
Expertise, available infrastructure(s)
Fondazione Telethon (FTELE) is an Italian non-profit organization that has been supporting bio-medical
research on rare and genetic diseases for more than 30 years. The vision of FTELE is to translate research results
into therapies available to patients. Over the years Telethon Foundation has invested around 660 euro million
funding almost 3000 research projects involving more than 1700 scientists.
Every year Telethon Foundation launch a call for projects in the field of RD research open to all Italian not for
profit research centres (including university and public hospitals). Moreover Telethon runs 2 research institutes,
the Telethon Institute for Genetic Medicine (TIGEM) and the San Raffaele Telethon Institute for Gene Therapy
(SR‐Tiget).
In collaboration with pharmaceutical industries, FTELE research was developed up to marketing authorization
resulting in 2 ex-vivo gene therapy products approved by the EMA (Strimvelis and Libmeldy). Since 2023
FTELE is the marketing authorization holder of Strimvelis.
Main tasks in the project:
Leader: Task3.1; WP4.0; Task4.1; Task4.2; Task4.3; SubTask4.3.1; SubTask4.3.2; WP11.0
Contributor: Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5; WP21.0;
Task21.4;
6 - LMT
Name of the legal entity Lietuvos mokslo taryba
Expertise, available infrastructure(s)
LMT is the main research funding body in the country executing competitive funding to the national research
and higher education institutions for R&D using state budget, EU funds and other resources. We are developing
and implementing national funding programmes, as well as participating in the international cooperation
programmes and have expertise in such programme management taking different roles and taking part in various
activities (see section IV).
Participation and contribution in the joint funding (preparation and launch of transnational calls for research
projects) and other relevant transversal activities; taking the role of the WP lead dedicated to the funding
instrument for the networking and knowledge sharing. Involvement in the task dedicated to the Networking
Support Scheme: preparation and launch of open calls to third parties to apply for funding of networking events,
taking part in call secretariat work and the activities to ensure process quality.
Main tasks in the project:
Leader: WP5.0; Task5.1; Task5.2; Task5.3
Contributor: Task1.3; Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4;
SubTask3.2.5;
7 - ZonMw
Name of the legal entity ZORGONDERZOEK NEDERLAND ZON
Expertise, available infrastructure(s)
ZorgOnderzoek Nederland (ZON/ZonMw) is an independent self-governing organisation with the Dutch
Ministry of Health, Welfare and Sport and Dutch Research Council as important contractors. ZonMw
programmes and funds health research and innovation in care, and facilitates the utilisation of knowledge to
solve scientific and societal issues concerning care, health and well-being. Furthermore, ZonMw takes part in
several ERA-Nets, JPIs, Art 185 programmes and European Partnerships. In the EJP RD, ZonMw is coleader of
the Pillar ''Research funding" and funds research in joint transnational calls. Furthermore, ZonMw is WP leader
on the Networking Support Scheme and hosts this call secretariat. Partnerships.
ZonMw will be co-leader of the Workstream (Inter)national collaboration, co-leader of the WP on Global
collaboration and co-leader of the WP on networking to share knowledge, including hosting the secretariat for
this support scheme. ZonMw will fund research projects in joint transnational calls.
Main tasks in the project:
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Leader: WP5.0; Task5.1; Task5.2; Task5.3; WP25.0; Task25.1
Contributor: Task1.3; Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4;
SubTask3.2.5; Task3.3; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2;
SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2;
SubTask23.3.3; Task24.3;
8 - UT
Name of the legal entity EBERHARD KARLS UNIVERSITAET TUEBINGEN
Expertise, available infrastructure(s)
UT is a world-leading cluster of expert institutions focusing on research of rare diseases in particular rare
neurological disease, bringing together the expertise and methodologies from the Institute of Medical Genetics
and Applied Genomics, the Centre for Rare Disease, the Hertie-Institute for Clinical Brain Research (HIH), the
German Centre for Neurodegenerative Diseases (DZNE).
UT has been coordinating leading European RD projects such as Solve-RD, NeurOmics, EUROSCA and
1M1M.
UT is the coordinator and leading centre of the ERN-RND (European Reference Network on Rare Neurological
Diseases). This ERN establishes a large patient-centred network to address the needs of patients with RND of all
age groups, with or without a definite diagnosis, by implementing an infrastructure for diagnosis, evidence-
based management, treatment and collection of patient data.
Main tasks in the project:
Leader: WP6.0; Task6.1; Task6.3; Task7.1; Task8.2; Task9.5; Task12.2; Task12.3; Task12.5; Task13.2
Contributor: Task6.2; WP7.0; Task7.2; WP8.0; Task8.1; Task8.3; Task8.4; Task8.5; Task9.3; Task10.1;
Task10.2; Task12.1; Task12.4; Task20.3; SubTask20.3.1; SubTask20.3.2; Task25.3;
9 - UTartu
Name of the legal entity TARTU ULIKOOL
Expertise, available infrastructure(s)
UTartu is a leading research intuition in Estonia in the field of RD discovery, care and treatment. UTartu is
tightly connected with Tartu University hospital who is the only medical institution in Estonia to provide genetic
testing, newborn screening and genetic counselling in a wide range of clinical indications and all age groups.
UTartu is involved in H2020 B1MG (Beyond 1 Million Genomes), to support the EU Member State 1+ Million
Genomes Initiative and the European Genomic Data Infrastructure (GDI). UTartu is actively collaborating in the
field of rare diseases discovery with the Center of Mendelian Genomics at Broad Institute MIT Harvard.
Main tasks in the project:
Leader: WP6.0; Task6.1; Task6.2
Contributor: Task20.3; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2;
SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2;
SubTask23.3.3;
10 - CNAG
Name of the legal entity CONSORCIO PARA LA EXPLOTACION DEL CENTRO NACIONAL DE
ANALISIS GENOMICO
Expertise, available infrastructure(s)
The CNAG sequences >20,000 exomes/genomes from RD patients per year, and has experience in NGS data
management, quality control and analysis. The Bioinformatics Unit, led by Dr Beltran, includes 20 highly
experienced members and develops user-friendly pipelines and tools for NGS data analysis and interpretation.
Dr Beltran leads the development of the RD-Connect GPAP, participates in several RD EU (H2020 Solve-RD,
H2020 EJP-RD, H2020 B1MG, IMI Screen4Care,) and national (1000 PERIS URD-Cat, IMPaCT-Genómica)
projects and co-leads the ELIXIR RD-Community. The Unit contributes to MatchMaker Exchange
(IRDiRC/GA4GH) and Beacon initiatives (GA4GH, ELIXIR). CNAG will contribute to ERDERA by providing
i) expertise and data processing to WP6 (WP co-lead) and WP7 (WP co-lead), ii) software and technical support
to WP15 (WP co-lead) and iii) training support (co-lead task 20.3). To carry out these project activities, the unit
has access to the CNAG and RD-Connect GPAP clusters (13,000/304 cores).
Main tasks in the project:
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Leader: WP6.0; Task6.1; Task6.2; WP7.0; Task7.1; Task7.2; WP15.0; Task15.3; Task16.3; Task20.3;
SubTask20.3.1
Contributor: Task6.3; Task7.4; WP8.0; Task8.1; Task8.2; Task8.3; Task8.4; Task8.5; Task13.2; Task14.1;
Task15.1; Task15.2;
11 - SRUMC
Name of the legal entity STICHTING RADBOUD UNIVERSITAIR MEDISCH CENTRUM
Expertise, available infrastructure(s)
Radboudumc is one of largest (out of seven in total) University Medical Centres (UMCs) in The Netherlands
with approximately 11,100 employees and 609 hospital beds. The combination of high-quality scientific
research, patient care and education within one organisation is unique in the world. The strong interrelationship
between science, patient care and education enables Radboudumc to deliver the best possible care, applying the
latest insights in healthcare. Radboudumc, being organized this way, covers the whole spectrum from basic
exploration of biological processes, through translational research and patient-related research, to
epidemiological studies and clinical applications. This is an important source of care renewal. Conversely,
observations in patients may generate new hypotheses to be explored with basic or experimental translational
research, increasing our knowledge.
Radboudumc's mission is ‘to have a significant impact on healthcare’. Its activities help to improve healthcare
and consequently the health of individuals and of society. Radboudumc believes it can achieve that by providing
excellent quality, participatory and personalized healthcare, operational excellence and by working together in
sustainable networks. Its frame of reference is always the individual patient, who is unique. Unique
characteristics include not only the genetics, biology and physiology, but also the psyche, social environment
and wishes, responsibility and capabilities of the individual. In the vision of Radboudumc, all patients
participate in their own healthcare. Clinicians, researchers and patients work together to uncover the causes of
diseases and find cures for them. In this way, participatory healthcare has become the focal point of patient care,
education and research at Radboudumc.
Health and disease are based on underlying molecular and cellular mechanisms. Radboudumc offers many
possibilities to translate knowledge on aetiology and development of diseases into clinical practice, in terms of
susceptibility, prevention, diagnostics, prognosis and therapy for the patients concerned. Radboudumc combines
knowledge from the two biomedical worlds, mechanism-based and evidence-based medicine, to create person-
based medicine. In this way, the research at Radboudumc goes from molecule to man to population and back to
man. Subsequently, the individual patient is always the starting and ending point of any research.
Research in the Radboudumc is conducted within the Radboud Institution for Medical Innovation. Researchers
are working together to achieve a research environment that enables us to create societal impact and gain
insights, while maintaining a sustainable organization that pays attention to the well-being of our researchers. In
the near future our research will be conducted primarily in the context of research programs, each covering the
full chain from bench to bedside, which are clustered in four research domains: 1) Discovery science
BioMedTech; 2) Clinical science; 3) Health science; 4) MedTech & Data science.
1)Discovery science & BioMedTech: Researchers in this domain seek to gain a mechanistic understanding that
encompasses a wide range of biological, psychological, and social mechanisms that are relevant for both
prevention and medical care. Typically, research in this area is conducted through experimental work, which can
also facilitate the development of novel interventions and therapies. (e.g.., BioMedTech).
2)Clinical science: In this domain, researchers strive to directly innovate healthcare by conducting clinical
research with or near the patient. This involves both interventional as well as observational studies, or research
focused on the organization of healthcare. n3) Health science: In this domain, researchers focus on studying
(healthy) individuals and populations to gain a better understanding of the risk and resilience factors and the
impact of preventive interventions. This domain also includes research of quality and sustainability of care.
4) MedTech & Data science: In this domain, researchers engage in the development and evaluation of
sustainable medical technologies and data science that have the potential to be utilized in the realm of health and
healthcare. Within the project, Radboudumc will play a leading role in the CRN, improving diagnosis of RD
through reanalysis of existing exomes and genomes, multimodal data analysis and combining available data
from genomes with those from the EHRs. Moreover, Radboudumc plays a leading role in the FAIRification of
data from European resources through the data hub
Main tasks in the project:
Leader: WP7.0; Task7.1; Task7.3; WP8.0; Task8.2; Task8.3; Task9.1; Task14.1
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Contributor: Task6.2; Task6.3; Task7.2; Task7.4; Task8.1; Task8.4; Task8.5; WP9.0; Task9.3; Task10.1;
Task12.1; Task13.3; Task14.2; SubTask14.2.1; Task20.3; SubTask20.3.1; Subtask20.3.6; Task22.1;
12 - TUM
Name of the legal entity TECHNISCHE UNIVERSITAET MUENCHEN
Expertise, available infrastructure(s)
Prof Gagneur holds the chair for Computational Molecular Medicine at the Technical University of Munich,
with a secondary affiliation at the Institute of Human Genetics, at the TUM university hospital (MRI-TUM).
Gagneur develops computational methods for Rare Disease Diagnostics spanning non-coding variant
interpretation and omics-based diagnostics. Gagneur is moreover PI at the German Human Genome Phenome
Archive (GHGA, https://www.ghga.de/) in which he is leading the working group developing analysis
workflows. GHGA is the infrastructure research backend for Germany's primary use research genomics data, as
well as secondary use research genomics data (notably stemming from GenomDE:
https://www.bundesgesundheitsministerium.de/en/en/international/european-health-policy/genomde-en.html).
Main tasks in the project:
Leader: WP8.0; Task8.4; Task8.5
Contributor: Task6.2; Task6.3; Task7.3; Task8.1; Task8.2; Task8.3; Task9.1; Task20.3;
13 - UKHD
Name of the UNIVERSITATSKLINIKUM HEIDELBERG
legal entity
Expertise, available infrastructure(s) Expertise, available infrastructure(s)
FS leads the clinical research workgroup on FS leads the clinical research workgroup on paediatric
paediatric rare kidney diseases at UKHD, where rare kidney diseases at UKHD, where several European
several European and international rare kidney and international rare kidney disease registries are
disease registries are coordinated that will be utilized coordinated that will be utilized for demonstrator
for demonstrator projects in the ERDERA Outcomes projects in the ERDERA Outcomes Research WPs 9 &
Research WPs 9 & 10. FS will lead the Clinical 10. FS will lead the Clinical Research Network
Research Network workstream and the RWD WP 9 workstream and the RWD WP 9 in ERDERA.
in ERDERA. SK is coordinator of registry-based observational studies
SK is coordinator of registry-based observational for inherited metabolic disorders on a national (NBS
studies for inherited metabolic disorders on a 2020, NBS 2025) and European level (E-IMD, E-HOD,
national (NBS 2020, NBS 2025) and European level U-IMD). His department at UKHD provides newborn
(E-IMD, E-HOD, U-IMD). His department at screening for >140,000 newborns annually and
UKHD provides newborn screening for >140,000 coordinates regional/national pilot studies for newborn
newborns annually and coordinates regional/national screening. He will contribute an NBS demonstrator
pilot studies for newborn screening. He will project to the population-based outcomes research task 2
contribute an NBS demonstrator project to the of WP9.
population-based outcomes research task 2 of WP9. RS is coordinator of the BMBF- and EJP-RD funded
MRS is coordinator of the BMBF- and EJP-RD networks TreatHSP and PROSPAX that coordinate
funded networks TreatHSP and PROSPAX that translational research and natural history studies in
coordinate translational research and natural history Hereditary Spastic Paraplegias and Spastic Ataxias.
studies in Hereditary Spastic Paraplegias and Spastic Longitudinal clinical and biomarker datasets from these
Ataxias. Longitudinal clinical and biomarker networks will be utilized for demonstrator projects in the
datasets from these networks will be utilized for ERDERA Outcomes Research WPs 9 & 10. RS will (co-
demonstrator projects in the ERDERA Outcomes )lead RWD WP10 and contribute to tasks in WP9 and
Research WPs 9 & 10. RS will (co-)lead RWD WP12.My lab and I possess and will contribute
WP10 and contribute to tasks in WP9 and WP12. extensive expertise in the genetic engineering of
efficient, specific and safe gene transfer vectors based on
Adeno-associated virus (AAV) and bocavirus (BoV).
This comprises a broad portfolio for the genetic
diversification of viral capsid, genome and regulatory
elements in a high-throughput manner, as well as an
equally wide diversity of powerful and versatile
strategies for the stratification of these libraries and the
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enrichment of desired candidates ex vivo or in vivo
(small and large animals). A central component is our
team of dedicated and highly experienced
bioinformaticians who are well trained in the storage,
analysis and visualization of large biological data sets
(DNA, RNA, protein). Moreover, we have access to all
critical infrastructure required for this project,
comprising a scientific large data storage system, an
animal facility, various core facilities including single-
cell RNA sequencing and a next-generation sequencing
core.
Main tasks in the project:
Leader: WP9.0; Task9.3; WP10.0; Task10.1; Task11.1; Task12.4; Task12.5
Contributor: Task9.2; Task9.4; Task9.5; Task9.6; Task10.2; Task12.1; Task12.2; Task12.3; WP21.0; Task21.1;
Task25.3;
14 – C-PATH
Name of the legal entity CRITICAL PATH INSTITUTE STICHTING
Expertise, available infrastructure(s)
Critical Path Institute (C-Path) is an independent, non-profit organisation created in 2005 following the U.S.
Food and Drug Administration (FDA) release in 2004 of a report that launched the Critical Path Initiative. C-
Path, in collaboration with health authorities, industry, academia, and patient groups, creates and/or refines drug
development tools (DDTs) to speed up development of new treatments and diagnostics. All of the regulatory-
endorsed tools generated by C-Path are made available to all stakeholders at no, or minimal, cost to speed up the
availability of new medical products for patients in need. Our staff consists of professionals with strong program
management, data science, data analytical, regulatory science and product development skills. C-Path solutions
can include data resources, biomarkers, clinical outcome assessments, clinical trial simulators and other
quantitative tools. These tools and solutions help de-risk decision making in the development and regulatory
review process of novel medical products, owing to the active engagement of the regulators along the path to
regulatory endorsement.
Main tasks in the project:
Leader: WP9.0; Task9.6; Task14.3
Contributor: Task9.4;
15 - VHIR
Name of the legal entity INSTITUT CATALA DE LA SALUT
Expertise, available infrastructure(s)
Dr Mañú is the scientific director of the ERN-EuroBloodNet and coordinator of the European registration
platforms for patients with rare haematological diseases, ENROL, and with rare anaemia disorders, RADeep.
She coordinates W at ERICA Consortium on “ atient reported outcomes”. In addition, since 0 she is a
member of the Interdisciplinary Scientific Committee of the IRDiRC. Dr Mañú is leading in this proposal WP10
on “Clinical outcomes research” and also contributes in W . Dr Miguel Chillón is an ICREA researcher at
VHIR with an extensive background in vector development for gene therapy. Former co-chair of Advanced
Therapies of EATRIS (2015-2022), he has authored 14 patents and funded 2 spin-offs. Dr Ibane Abasolo is a
senior researcher, head of the CB-DDT group and the FVPR/U20 technological platform at VHIR. She
participates in several European projects developing nanoparticle-based treatments for rare diseases. Both, Dr
Chillón and Dr Abasolo contribute to WP21.
Main tasks in the project:
Leader: WP10.0; Task10.2
Contributor: Task9.1; Task9.5; Task10.1; Task10.3; Task20.3; SubTask20.3.2; WP21.0; Task21.1; Task21.3;
16 - LUMC
Name of the legal entity ACADEMISCH ZIEKENHUIS LEIDEN
Expertise, available infrastructure(s)
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LUMC is a university medical centre for research, education and patient care. It offers state-of-the-art research
facilities such as for genomics, proteomics, metabolomics, bioinformatics, FAIR data stewardship, stem cells,
transgenic animals, and sample biobanks. It participates in the League of European Research Universities
(LERU) education network. It participates in 8 ERNs, hosting two ERN registries. Prof Aartsma-Rus, co-leader
of WP12, brings expertise from over 23 years of preclinical development of exon skipping therapies, leading
(inter)national n-of-1 therapy developments (via IRDiRC, N-of-1 collaboratives, the Dutch Center for RNA
Therapeutics). She engaged with regulators, patients and academics for Duchenne therapy development. Prof.
Ahmed, Prof. Biermasz, and Dr Appelman-Dijkstra, leading endocrine specialists, contribute to the CRN
stream. Ahmed and Appelman-Dijkstra lead the ENDO and BOND registries. Dr Santen, head of the LUMC
Clinical Genetics department, has an extensive track record in rare disease research, identifying new causative
genes, and a recognized expert of Coffin Siris syndrome, for which he recently completed a clinical trial. He
submitted > 1800 datasets to solve-RD and will deliver high numbers of exome and genome datasets to the
ERDERA diagnostic workstream. Dr Roos, co-leader of WP14, leads research of the LUMC Biosemantics
group on analysing data with computable knowledge and implementing FAIR principles. He co-founded the
FAIR principles that were initiated by the group’s prof. Mons. Roos co-leads the ELIXIR rare disease
community and the WP on FAIR implementation at source in the EJP RD. LUMC contributes to several tasks in
the project pertaining to data analysis, FAIR implementation and development of AI, network analysis, and data
integration.
Main tasks in the project:
Leader: WP12.0; Task12.1; WP14.0; Task16.4
Contributor: Task6.2; Task6.3; Task9.3; Task9.5; Task12.2; Task12.3; Task12.4; Task12.5; Task13.2; Task13.3;
Task14.2; Task14.3; Task16.5; Task20.1; Subtask20.1.1; Task20.3; Subtask20.3.6;
17 - UTWENTE
Name of the legal entity UNIVERSITEIT TWENTE
Expertise, available infrastructure(s)
I have previously co-chaired the IRDiRC WG on medical technology, have authored several publications on the
overview of this field (currently under submission), am editing a special collection in this topic on OJRD, have
participated in several congresses this year on this topic, and hosting session, am participating in the EC group
of MDCG (definition of orphan device and incentives for orphan devices), and have a large network in this field,
including a network of testing facilities of orphan devices. For other non-pharmacological treatments that are not
devices, I have shaped and developed several research projects.
Main tasks in the project:
Leader:
Contributor: Task13.1; Task14.1; Task20.3; Subtask20.3.6;
18 - UPM
Name of the legal entity UNIVERSIDAD POLITECNICA DE MADRID
Expertise, available infrastructure(s)
Prof. Federico Alvarez is the coordinator of the projects GenoMED4ALL and TeNDER in H2020, Synthema in
Horizon Europe which will provide technology and serve as a base for multi-omics and clinical data analysis
and federated learning capabilities. Dr Mark D Wilkinson. has focused on creation and exploitation of semantic
middleware for >25 years. He was author of several interoperability infrastructures including BIoMOBY and
SADI/SHARE, which were widely deployed over bioinformatics tools worldwide. He is lead author of the
primary FAIR Data Principles publication, which has been cited more than 10,000 times since its publication in
2016; FAIR was a core objective of the EJP-RD project, and is also at the core of the WP13/14/15 objectives in
this ERDERA proposal. His role will be to ensure that all technological contributions in the project are aligned
with the objectives of FAIRness, and will execute automated evaluations of FAIRness compliance.
Main tasks in the project:
Leader: Task13.3; WP14.0; Task14.2; Task15.3
Contributor: Task9.1; Task9.5; Task10.2; Task13.2; Task14.1;
19 - UMCG
Name of the legal entity ACADEMISCH ZIEKENHUIS GRONINGEN
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Expertise, available infrastructure(s)
The UMCG (Academisch Ziekenhuis Groningen) is the second largest academic hospital in the Netherlands.
The data methods and infrastructure work are planned at the Genomics Coordination Center (Prof Swertz) a
40fte bioinformatics core facility and big data stewardship hotel between the UMC/University of Groningen.
GCC specializes in data catalogues, federated analysis, HPC genomics, and rare disease patient registries. All
GCC software is open source and available as part of the MOLGENIS software platform for scientific data
(http://www.molgenis.org). We are partner in BBMRI, ELIXIR, Health-RI.
Within this project, GCC will be a main data analysis infrastructure partner, providing sample track and trace
into WP6, innovative analysis pipelines using VIP in WP8, metadata federation in WP13 and WP14 as a task
leader, and most importantly, co-leading WP15 to deliver high performance and federated analysis capability for
CRN and funded projects.
Main tasks in the project:
Leader: Task13.3; Task14.2; WP15.0; Task15.1; Task15.2
Contributor: WP6.0; Task6.1; Task6.2; Task6.3; Task7.1; Task7.2; Task7.4; Task8.2; Task13.2; Task15.3;
Subtask20.3.6;
20 - AUMC
Name of the legal entity STITCHING AMSTERDAM UMC
Expertise, available infrastructure(s)
AUMC provides
- state of the art access to institutional international RD infrastructures and personal expertise. Two ERNs as
well as ERICA are coordinated from AUMC: Endo-ERN (prof. A. Pereira) and ERN-GUARD-HEART (prof.
A. Wilde), as well as ERICA (also coordinated by prof. A. Pereira) that has created a platform that integrates all
24 ERNs
- research and innovation capacity that significantly impact on the ERDERA and SRIA.
AUMC participates in 20 ERNs (AUMC RD ECZA Office), with structured national (all representatives and
coordinators are part of the Dutch National Mirror Group) and international RD networks (ERNs, ERICA, EJP
RD).
AUMC is foreseen to participate in the following ERDERA WPs: WP12; WP14; WP16; WP25.
Prof. A. Pereira/ Dr Soeters are experts in CRN Non-Pharmaceutical Intervention Task Force. Prof. A. Pereira is
professor of medicine, and head of the Department of Endocrinology & Metabolism.
Dr Soetens is PI of the Metabolic Research unit focussed on feeding in health care.
Prof. A. Wilde is professor in medicine and currently head of the Department of Clinical and Experimental
Cardiology.
Assoc Prof. R. Cornet is PI of the Reusable Health Data unit, and foreseen to lead the Knowledge Service Hub
Stream (WP12-WP16) and WP16.
Main tasks in the project:
Leader: Task14.1; WP16.0; Task16.5
Contributor: Task13.1; Task13.3; Task14.2; Task16.1; Task20.3; Subtask20.3.6; Task25.1; Task25.3;
21 -UM
Name of the legal entity UNIVERSITEIT MAASTRICHT
Expertise, available infrastructure(s)
UM, respectively, the department of bioinformatics and my main research interests are rare genetic diseases,
especially neuronal and metabolic diseases, which I investigate using neuroscience, genetics, and bioinformatics
methods. Within the EJP RD my WP13 (systems biology) investigated overlapping mechanisms - networks -
between the disturbed metabolic and signalling pathways of the (rare) disease and environmental influences
such as nutrition and toxicology - including building capacities and capturing knowledge in machine readable
form in order to do this (= WikiPathways, rare disease community, my group is one of 2 major groups hosting
and curating WikiPathways). I am an expert capturing biomedical knowledge and translate this in machine
readable content for knowledge bases that can be used for data analysis - with or without using AI. Within the
ERDERA DSH we build on these capacities, integrate new knowledge bases and use them for rare disease
network construction in order to model concrete research questions, diagnosis, or treatment options.
Main tasks in the project:
Leader: WP16.0; Task16.4
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Contributor: Task16.5;
22 - EATRIS
Name of the legal entity European Infrastructure for Translational Medicine ERIC
Expertise, available infrastructure(s)
EATRIS, the European Infrastructure for Translational Research with over 150 top-tier academic centres across
Europe, provides access to the entire pipeline of academic translational infrastructure and expertise, and
optimises the route from discovery to proof-of-concept in medicines development. It provides a new
development pathway, open to academic researchers and companies in need of support for advancing
biomedical innovations. The EATRIS ‘Coordination & Support’ office employs people, with expertise
ranging from regulatory science, drug development and technology transfer to project management and science
policy. EATRIS is a European Research Infrastructure Consortium (ERIC) since 2013, a legal entity established
by the European Commission to facilitate the operation of international research infrastructures.
Examples of EATRIS support and services
- development planning: EATRIS matches clients’ needs (ranging from biotech companies to academia and
pharmaceutical industry) to the specific capabilities and expertise of the institutions, relying on a sophisticated
and detailed database outlining EATRIS institutional capabilities, and based on the critical path needs of the
project. Regulatory services include contact and filings with national competent authorities and EMA.
- Industrial mentoring and feasibility assessment: EATRIS supports investigators and their funders in assessing
the translational feasibility of their projects and portfolios, and provides access to industrial and other expert
mentors for hands-on guidance.
Main tasks in the project:
Leader: WP17.0; Task17.1; WP18.0; Task 18.1; SubTask20.3.4; Task22.3
Contributor: Task17.2; Task20.3; WP22.0; Task22.1; Task22.2; Task22.4;
23 - FGB
Name of the legal entity FONDAZIONE PER LA RICERCA FARMACOLOGICA GIANNI BENZI
ONLUS
Expertise, available infrastructure(s)
FGB has 1) acted as a partner of EU and national projects to comply with the relevant requirements in clinical
studies, consent and assent process, data collection and analysis, secondary use; 2) organised training activities
at national and international level devoted to creating a critical mass of experts in the field of the regulatory
sciences. FGB was also part of the study team of the Impact Assessment study on the revision of the Orphan and
Paediatric Regulations contracted by the European Commission. FGB will lead/co-lead the ethics (Task 1.6) and
regulatory (WP18) activities and mentoring and consultancy.
Overall, the robust expertise in the regulatory and ethical field represents a key element to well-address these
activities spanning from clinical and non-clinical studies and regulatory validation procedures to the collection
of health data, guidance for researchers and protection of patient rights.
Main tasks in the project:
Leader: Task1.5; WP17.0; Task17.2; WP18.0; Task18.2
Contributor: Task5.1; Task5.2; Task5.3; Task14.1; Task17.1;
24 - APHP
Name of the legal entity ASSISTANCE PUBLIQUE HOPITAUX DE PARIS
Expertise, available infrastructure(s)
AP-HP as a partner is made up of 5 ERN leaders who are also leaders of national rare disease networks where
there are the largest number of patients with these pathologies in France. AP-HP is building up a network of
hospital and university partners with clinical and research expertise, who already have lists of publications in
prestigious journals, as well as national and European research projects. In these projects, the AP-HP can draw
on the networked platforms of diagnostic excellence provided by the URCs and CICs, which specialize in
clinical trials. The various AP-HP partners are part of the EJP-RD with leadership roles, and participate at
national level in the BNDMR, AP-HP's own national structure. The culture of working with patient associations
in a network and in collaboration with ORPHANET and INSERM.
Main tasks in the project:
Leader: Task9.2; WP19.0; Task19.1; Task19.2; Task19.3; Task19.4
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Contributor: Task6.2; Task6.3; Task7.4; Task9.1; Task9.3; Task10.1; Task10.2; Task10.3;
25 - UHASSELT
Name of the legal entity UNIVERSITEIT HASSELT
Expertise, available infrastructure(s)
Geert Molenberghs and the UHasselt/I-BioStat team has proven and long-standing expertise in basic and applied
research and advanced education in biostatistics, with focus on clinical trials, longitudinal data, incomplete data,
surrogate endpoints, and epidemiological methods. The team has strong expertise in computational aspects of
both very small and very large studies. Geert Molenberghs was co-PI in EJP RD projects EBStatMax and iStore.
He was an investigator within the IDEAL project, under the leadership of Ralf-Dieter Hilgers, and directed
several researchers working on the project. The research in the above fields have led to numerous publications in
the peer-reviewed literature. Geert Molenberghs is also (co-)author on several successful books on longitudinal
data, missing data, surrogate endpoints in clinical trials, the estimation framework. He is currently co-editing a
book on generalized pairwise comparisons.
Main tasks in the project:
Leader: WP19.0; Task19.2; Task19.3
Contributor: Task19.1; Task19.4; Task20.3; SubTask20.3.5;
26 - EURORDIS
Name of the legal entity EURORDIS - RARE DISEASES EUROPE
Expertise, available infrastructure(s)
EURORDIS is a non-profit alliance of over 1000 RD patient organisations (from 74 countries) that work
together to improve the lives of over 300 million people living with a rare disease. By connecting patients,
families, and patient groups, as well as by mobilising the RD community, EURORDIS strengthens the patient
voice and shapes research, policies, and patient services. Our mission is to work across borders and diseases to
improve the lives of all persons living with a RD. This is done through the three-pronged strategy of: advocate,
empower and partner. The contribution of EURORDIS has been key to the adoption of important rare disease
and orphan medicine legislations at the European level, incl. the EU Regulation on Orphan Medicinal Products,
the EU Regulation on Advanced Therapies, the EU Directive on atients’ Rights in Cross-border Healthcare. By
partnering with RD National Alliances, EURORDIS also empowers national processes, and facilitates the
adoption and implementation of national plans and strategies for rare diseases in European countries.
EURORDIS will coordinate WP20 and will deliver an ambitious training programme for patients and young
researchers. EURORDIS will also coordinate PPIE across the ERDERA and will contribute to different tasks
bringing patients perspectives, preferences and expectations.
Main tasks in the project:
Leader: Task3.3; WP20.0; Task20.1; Subtask20.1.1;
Contributor: Task1.2; Task2.2; Task2.3; Task3.1; Task5.1; Task5.3; Task7.1; Task7.4; Task10.1; Task10.2;
Task10.3; Task11.1; Subtask20.1.2; Task20.2; SubTask20.3.7; SubTask20.4.1; SubTask20.4.2; SubTask20.4.3;
SubTask20.4.4; SubTask20.4.5; SubTask20.4.6; Task22.1; Task22.2; Task22.3; Task24.1; Task24.2; Task24.3;
Task25.1;
27 - VULSK
Name of the legal entity VIESOJI ISTAIGA VILNIAUS UNIVERSITETO LIGONINE SANTAROS
KLINIKOS
Expertise, available infrastructure(s)
Vilnius University Hospital Santaros Klinikos is one of the largest University hospitals in Lithuania and Eastern
Europe encompassing all main medical specialties. VULSK is founded by Vilnius University and Lithuanian
Ministry of Health with three key assignments of highly specialized healthcare, research and education/training.
Considerable part of VULSK human resources is active in research and education.
Main tasks in the project:
Leader: Task8.1; WP20.0; Task20.2; Subtask20.2.1; Task20.3; SubTask20.3.7; Task24.1
Contributor: Subtask20.2.2; Task20.4; SubTask20.4.1; SubTask20.4.2; SubTask20.4.3; SubTask20.4.4;
SubTask20.4.5; SubTask20.4.6; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2;
SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2;
SubTask23.3.3; Task24.3;
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28 - UC
Name of the legal entity UNIVERSIDADE DE COIMBRA
Expertise, available infrastructure(s)
The Group of Gene and Stem Cell Therapies for the Brain at University of Coimbra (UC) is devoted to the
creation of effective therapies for brain diseases, as Machado-Joseph Disease, a rare neurodegenerative disorder,
that can be moved from the bench to the bedside. For this, the group designs and uses technological platforms
based on viral vectors, nucleic acids, exosomes and nanoparticles, gene editing, induced pluripotent stem cells,
and neural Stem Cell and mesenchymal stromal cells. These technological platforms are the core of the
Innovative Therapies Technology Accelerator WP of the WS Acceleration hub. UC is thus the academic lead of
the Technology Acceleration WP and task leader of mRNA-based therapeutic strategies. The group has access
to all the necessary infrastructure to carry out the project's activities, as molecular biology labs, cell culture
rooms, animal facilities, a RI for viral vector production, experimentation and gene transfer, and a microscopy
unit.
Main tasks in the project:
Leader: WP21.0; Task21.2
Contributor: Task21.1; Task21.3; Task21.4; Task21.5;
29 - FFRD
Name of the legal entity FONDATION MALADIES RARES
Expertise, available infrastructure(s)
FFRD has a longstanding expertise in funding research through competitive calls, in the organization of
scientific meetings, public-private partnerships, and open online trainings. FFRD has a strong track record of
participation to international consortia (EJPRD, Simpathic RIA Horizon Health project, Erasmus+) and is a
Member of the IRDiRC Funding Members Committee. Since 2019, it developed an intense activity of assistance
to PAOs for the definition and management of their research efforts they dedicate to their specific disease.
Main tasks in the project:
Leader: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5; Task3.3;
WP22.0; Task22.4; Task24.2; Task25.2; SubTask25.2.1; SubTask25.2.2; SubTask25.2.3
Contributor: Task1.3; Task2.3; Task5.1; Task5.3; Task20.2; Subtask20.2.1; Task22.1; Task22.2; Task22.3;
Task25.1;
30 - AFM
Name of the legal entity ASS FRANCAISE CONTRE LES MYOPATHIES
Expertise, available infrastructure(s)
AFM-Téléthon has been funding research project dedicated to rare diseases therapeutical development for more
than 35 years. More particularly, it supported two laboratories dedicated to Gene therapy (Genethon) and Stem
cells therapy (I-Stem) and a clinical centre dedicated to neuromuscular diseases (Institute of Myology) and
clinical trials (I-Motion). Completing its experience in therapeutical development, AFM-Téléthon is also
actively involved in several European research networks supporting Patient engagement in research (in the ERN
EuroNMD and the European Joint Programme for Rare Diseases) and communication and collaboration
between all pertinent stakeholders, clinicians, researchers, patients, pharmaceutical representatives and
regulatory agencies representatives (ENMC). Finally, through its annual fundraising event, Téléthon, AFM-
Téléthon has a long-term experience in communication to the global population around topics such as rare
genetic diseases and innovative biotherapies.
Main tasks in the project:
Leader: Task22.2
Contributor: Task1.2; Task3.3; WP22.0; Task22.1; Task22.3; Task22.4;
31 - CCUH
Name of the legal entity BERNU KLINISKA UNIVERSITATES SLIMNICA VALSTS SIA
Expertise, available infrastructure(s)
Madara Auzenbaha, MD, PhD, hold the position of Chief Physician for Rare Diseases at the Clinic of Medical
Genetics and renatal Diagnostics. Alongside this, I am a I at Riga Stradiņš University and an acknowledged
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expert by the Latvian Council of Science. I serve as the Chief Specialist in Rare Diseases at the Ministry of
Health and am entrusted with the role of Orphanet National Coordinator. Additionally, I am an active member of
the Board of Member States within the European Reference Networks.
My responsibilities span projects funded by the Latvian Science Council, European Social Fund, and European
Regional Development Fund, including initiatives like OD4RD II and JARDIN. With nearly 15 years of
dedicated engagement in the field of rare diseases in Latvia, I possess understanding of the unique challenges
faced by smaller countries operating within limited budgets. Over time, I have honed not only specific clinical
knowledge but also valuable skills of communicating with patients and patient organisations.
Within this project, my role encompasses co-leadership of WP 23 and Task 3 with UNEW. I will be
instrumental in coordinating regular communication among various NMG, facilitating workshops, and
contributing to annual meetings. Furthermore, I will participate in crafting best practice guidelines aimed at
ensuring the sustainability of NMGs, as well as contributing to the preparation of peer-reviewed articles.
Main tasks in the project:
Leader: WP23.0; Task23.3; SubTask23.3.1; SubTask23.3.2; SubTask23.3.3
Contributor: Task8.4; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2; SubTask23.2.1;
SubTask23.2.2; SubTask23.2.3; SubTask23.2.4;
32 - AICIB
Name of the AICIB - AGENCIA DE INVESTIGACAO CLINICA E INOVACAO BIOMEDICA
legal entity
Expertise, available infrastructure(s) Expertise, available infrastructure(s)
The Agency for Clinical Research and Biomedical The Agency for Clinical Research and Biomedical
Innovation (AICIB) is an entity created by a Innovation (AICIB) is an entity created by a
Resolution of the Portuguese Council of Ministers, in Resolution of the Portuguese Council of Ministers, in
2018, to be the link between the Ministry of Health 2018, to be the link between the Ministry of Health
and the Ministry of Science and Technology. Its main and the Ministry of Science and Technology. Its main
mission is to promote, coordinate and support mission is to promote, coordinate and support
activities in the areas of clinical and translational activities in the areas of clinical and translational
research and biomedical innovation, contributing to research and biomedical innovation, contributing to
the optimization of Portugal's clinical, scientific and the optimization of Portugal's clinical, scientific and
technological potential. AICIB’s mission is also to technological potential. AICIB’s mission is also to
coordinate research to be priority-oriented based on coordinate research to be priority-oriented based on
several political instruments such as the National several political instruments such as the National
Health Plan, the Priority Health Programmes, the Health Plan, the Priority Health Programmes, the
National Strategy for Personalized Medicine National Strategy for Personalized Medicine
(PT_MedGen), or European Framework Programmes (PT_MedGen), or European Framework Programmes
for R&D in Health. for R&D in Health.
AICIB’s internal structure is organized in “ illars”, AICIB’s internal structure is organized in “ illars”,
one of which dedicated to the Internationalization of one of which dedicated to the Internationalization of
Research and Innovation in Health (International Research and Innovation in Health (International
Pillar); participation in international initiatives is Pillar); participation in international initiatives is
ensured within this Pillar (namely in what refers to the ensured within this Pillar (namely in what refers to the
European artnerships). Member of ortugal’s European Partnerships).
National Mirror Groupe for Rare Diseases, with a Member of ortugal’s National Mirror Groupe for
professional team specialized in science, technology & Rare Diseases, with a professional team specialized in
innovation management, and in providing support, science, technology & innovation management, and in
advice and assistance to the whole scientific and providing support, advice and assistance to the whole
relevant business community (in the area of Health), scientific and relevant business community (in the area
and a record of active participation in more than a of Health), and a record of active participation in more
dozen Partnerships, AICIB has the appropriate than a dozen Partnerships, AICIB has the appropriate
institutional profile for assuming an active role in institutional profile for assuming an active role in
ERDERA, namely in the context of the Workstream ERDERA, namely in the context of the Workstream
“(Inter)national capacity alignment” and in the W “(Inter)national capacity alignment” and in the WP24
– Fostering the participation of Underrepresented – Fostering the participation of Underrepresented
Countries in ERDERA, specifically respecting the Countries in ERDERA, specifically respecting the
coordination of the joint efforts to be conducted for coordination of the joint efforts to be conducted for
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addressing specific needs and expectations of addressing specific needs and expectations of
Underrepresented Countries, foster collaboration, and Underrepresented Countries, foster collaboration, and
boost inclusion of Underrepresented Countries boost inclusion of Underrepresented Countries
(researchers and patient populations) in Rare Diseases (researchers and patient populations) in Rare Diseases
R&I programmes. R&I programmes.
Main tasks in the project:
Leader: WP24.0; Task24.3
Contributor: Task25.1; Task25.3;
33 - IMGGE
Name of the legal entity INSTITUT ZA MOLEKULARNU GENETIKU I GENETICKO INZENJERSTVO
Expertise, available infrastructure(s)
Prof. Maja Stojiljkovic, PhD (IMGGE) is a top grade researcher with 17 years of research expertise in the RD
field and 1 years’ experience in leading project/projects’ W s. She has published papers (total IF 08. 77,
900 citations, h-index 17) and 1 national patent. She is Coordinator of Serbian ORPHANET team, since 2022
(www.orpha.net), Secretary of ICORD, since 2019 (www.icord.es) and member of Expert Committee of
National Organization for Rare Diseases of Serbia, since 2010 (www.norbs.rs). She was a member of the
working group at the Ministry of Health Republic of Serbia that monitored and coordinated implementation of
National program for rare diseases for 2020-2022. Prof. Stojiljkovic's role in the project is to identify actions to
effectively increase participation of the UCs RD community in the partnership. Further-on she will work on
proposing measures and guidelines aiming to increase UCs integration, and explore funding opportunities to
leverage overall projects’ budget.
Main tasks in the project:
Leader: WP24.0; Task24.3;
34 - RDI
Name of the legal entity Rare Diseases International
Expertise, available infrastructure(s)
RDI is the global alliance of rare disease patient organisations across all countries and across all rare diseases.
RDI’s vision is a world where ersons Living with a Rare Disease ( LWRD) and their families experience a
better life through full recognition and support. RDI’s members include national and regional of RD patient
organizations, and disease-specific international federations that, altogether, cover over 150 countries. RDI
supports a Strategic Engagement Programme, providing PLWRD, patient representatives, and organisations a
platform for learning, knowledge-sharing, and developing best practices. RDI is working to support healthcare
systems strengthening through global networking of specialized expertise (Global Network of Rare Diseases);
improve access to treatments and care for rare diseases through the essential model lists. RDI is well position to
bring input from PLWRDs and lead the international dimension of ERDERA.
Main tasks in the project:
Leader: WP25.0; Task25.3
Contributor: Task1.2; Task10.3; Task25.1;
35 - ACU
Name of the legal entity ACIBADEM MEHMET ALI AYDINLAR UNIVERSITY
Expertise, available infrastructure(s)
"Rare Diseases and Orphan Drugs Application and Research Centre-ACURARE", established in 2017 within
Acıbadem Mehmet Ali Aydınlar University, aims to improve diagnosis and treatment opportunities in the field
of rare diseases and orphan drugs. ACURARE employs expert clinicians, bioinformaticians, data analysts,
genomic and molecular biologists, genomic scientists, and molecular biologists for the diagnosis, treatment
research, and other translational medicine steps for undiagnosed and rare diseases. In this context, in
ACURARE, we perform deep-phenotyping and/or re-evaluation of rare disease patients, DNA/RNA sequencing,
variant analysis, advanced bioinformatic follow-up (if necessary), and functional analyses starting from the
clinical step. Regarding infrastructure, ACURARE comprises a high-performance computer (Çirakoğlu-HPC), a
research laboratory with facilities for genetics, molecular biology, cell biology, micro-imaging, and a research
biobank.
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Main tasks in the project:
Leader: SubTask20.4.2; SubTask20.4.3
Contributor: Task20.4; SubTask20.4.1; SubTask20.4.4; SubTask20.4.5; SubTask20.4.6;
36 - AIT
Name of the AIT AUSTRIAN INSTITUTE OF TECHNOLOGY GMBH
legal entity
Expertise, available infrastructure(s) Expertise, available infrastructure(s)
The AIT is Austria's largest non-universitary research The AIT is Austria's largest non-universitary research
institutes. AIT's Digital Health Information Systems institutes. AIT's Digital Health Information Systems
group has more than 20 years of experience in group has more than 20 years of experience in
developing, deploying and maintaining IT developing, deploying and maintaining IT
infrastructures for clinical research, especially in the infrastructures for clinical research, especially in the
field of rare diseases, in telehealth solutions, and in field of rare diseases, in telehealth solutions, and in
privacy-preserving data services. The AIT is certified privacy-preserving data services. The AIT is certified
by ISO 9001 and ISO 13485. Within the EJP RD, AIT by ISO 9001 and ISO 13485. Within the EJP RD, AIT
was responsible for the overall architecture of the EJP was responsible for the overall architecture of the EJP
RD Virtual Platform. In the RD Partnership, the AIT RD Virtual Platform.
will contribute to the evolution of the overall In the RD Partnership, the AIT will contribute to the
architecture of the developed IT solutions, privacy- evolution of the overall architecture of the developed
preserving record linkage and services including their IT solutions, privacy-preserving record linkage and
interoperability, semantic models and mapping services including their interoperability, semantic
services, and to the collection of ePREMs and models and mapping services, and to the collection of
ePROMs. ePREMs and ePROMs.
Main tasks in the project:
Leader: Task13.2
Contributor: Task14.2; Task15.1; Task15.3;
37 - AMU
Name of the legal entity UNIVERSITE D'AIX MARSEILLE
Expertise, available infrastructure(s)
Computational and systems biologists, with expertise in developing methods and algorithms for data integration,
with a special focus on approaches that can be applied to the study of rare genetic diseases. In the ERDERA, I
will be involved in WP8: Genomic innovation to shorten time to diagnosis (and co-leading task 8.5) and WP16:
Knowledge bases and ontologies for RD research.
The partner Aix-Marseille Université (AMU) will receive the support of Protisvalor Mediterranée SAS (PVM),
a spin-off company created by AMU to handle the financial and administrative aspects of AMU's projects.
Protisvalor will act as In-kind contributors against payments of AMU. PVM is linked to AMU through a
Framework Agreement validated by the French Ministry of Research and Higher Education (MESR), giving the
right for PVM to administer. In H2020, PVM was involved in 116 projects whereas in HEUR PVM is involved
until now in 53 projects. Consequently, PROTISVALOR will manage the administrative and financial aspects
on behalf of AMU in the ERDERA project. The department will handle some means and expenses necessary for
the fulfilment of the objectives of the project, e.g., purchasing necessary consumables and/or equipment;
handling dissemination and publication costs; and any other necessary project expenses. All expenses incurred
by PVM will be recorded in its own accounts and reported in the AMU financial report.
Main tasks in the project:
Leader: Task8.5;
Contributor: Task16.4;
38 – AOU MEYER IRCCS
Name of the legal entity AZIENDA OSPEDALIERA UNIVERSITARIA MEYER IRCCS
Expertise, available infrastructure(s)
The Neuroscience Department of the AOU MEYER IRCCS is an internationally renowned centre in the field of
epilepsy and neurodevelopmental disorders. It includes two Paediatric Neurology and Psychiatry inpatient
wards, Neurophysiology, Neurogenetics and Neurobiology Laboratories and a dedicated Neuropsychology team.
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The Department provides multidisciplinary care for children with neurological disorders, clinical and genetic
studies of patients with epileptic encephalopathies and/or malformations of cortical development,
neurophysiological studies, and presurgical evaluation and surgical treatment of children with epilepsy. The PI,
Prof. Renzo Guerrini, is a world's leading expert in epilepsy genetics. He has coordinated 20 research Projects in
Italy and in the UK (funding bodies: European Community, GKT Special Trustees, The Fund for Epilepsy,
Telethon Foundation, Mariani Foundation, Italian Ministry of Health, Italian Ministry of Education, University
and Research, Tuscany Region).
Main tasks in the project:
Contributor: Task6.2; Task6.3;
39 – ASU-FC
Name of the legal entity AZIENDA SANITARIA UNIVERSITARIA FRIULI CENTRALE
Expertise, available infrastructure(s)
ASUFC MetabERN does coordinate the European Reference Network for Inherited Metabolic Diseases (IMDs).
MetabERN groups 101 centres of excellence in 27 member states. Our vision is on establishing a growing and
developing network to improve the lives of patients affected by rare IMDs. Our Mission is to identify and bring
together the best expertise from across Europe to facilitate prevention, diagnosis, management, research and
access to the best available care for metabolic patients. Our expertise relies on a) Pool knowledge and improve
information exchange between members; b) Improve diagnosis and care c) in disease areas where expertise is
rare; d) Support all Member States to provide highly specialised care to patients affected by IMDs; e) Advance
innovation in medical science and health technologies for IMDs; f) Provide cross-border medical training and
research on IMDs) Support all patient initiatives towards harmonising and improving all aspects of the care
chain.
Main tasks in the project:
Leader: Task20.2; Subtask20.2.2; Task25.4
Contributor: Subtask20.2.1; Task25.1;
40 - BIU
Name of the legal entity BAR ILAN UNIVERSITY
Expertise, available infrastructure(s)
Dr Hendel’s lab aims to develop robust and safe CRIS R genome editing in primary cells to treat hematopoietic
genetic disorders. Under Dr Porteus at Stanford University, Dr Hendel was the first to demonstrate improved
CRISPR editing in human primary cells through chemically modified sgRNAs (PMID: 26121415,
WO2016164356A1) with therapeutically relevant rates (PMID: 27820943, WO2017053729A1). Recently, the
Hendel lab demonstrated successful CRISPR-Cas9/rAAV6 gene correction, generating T cells from RAG2-
SCID patient-derived HSPCs (PMID: 36618262). The lab also focuses on developing protocols and standards to
evaluate the specificity and toxicity of the editing process (PMID:32478125). These studies led to the
development of CRISPECTOR, a software tool that supports the detection and quantification of editing activity
from NGS data (PMID: 3 0 1 ,W 0 1 6 A1). Dr Hendel’s expertise in detecting off-target events in
edited HSPCs will be essential for the accomplishment of WP6.
Main tasks in the project:
Contributor: WP21.0; Task21.4;
41 - BMBF
Name of the legal entity BUNDESMINISTERIUM FUER BILDUNG UND FORSCHUNG
Expertise, available infrastructure(s)
The German Federal Ministry of Education and Research (BMBF) supports innovative projects and ideas in
research through targeted funding programmes. Funding is provided for projects in a wide spectrum of research
areas, covering the whole range from basic research in natural
sciences, environmentally friendly sustainable development, new technologies, information and communication
technologies, the life sciences, work design as well as structural research funding at institutions of higher
education to innovation support and technology transfer. BMBF has participated in various ERA-Nets such as
ERA PerMed, E-Rare, ERA-CVD, InfectERA and TRANSCAN. BMBF is member of the IRDiRC innovation
support and technology transfer.
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BMBF provides financial support to the Joint Transnational Calls (WP3). Within the programme, DLR and
BMBF will act as an "institutional couple": Decisions on political, strategic and budgetary issues are taken by
the BMBF and DLR-PT will speak and act according to these decisions.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
42 – CCRI GmbH
Name of the legal entity ST. ANNA KINDERKREBSFORSCHUNG GMBH
Expertise, available infrastructure(s)
The group of Prof. Boztug at CCRI GmbH has a long-standing expertise in diagnosing patients with inborn
errors of immunity or haematopoiesis and the identification of novel causal variants in these disease entities via
whole-exome sequencing. (e.g. PMID: 37342957, 37249233) The bioinformatics core unit of the CCRI GmbH
maintains a powerful computational cluster and custom pipelines for the analysis of high-throughput multi-
omics data. We will provide these resources and our experience to integrate the analysis of whole-exome
sequencing data with bulk, as well as single-cell RNA-Sequencing data to identify novel disease-causing
variants in patients with rare diseases. By implementing the analysis of single-cell data directly in the diagnostic
pipeline we may uncover the underlying biology and specific cell types and aberrant developmental processes
affected by genetic lesions in patients with unsolved rare disease and ultimately shorten the time to diagnosis of
these patients. (PMID: 34826259)
Main tasks in the project:
Leader: Task8.4
Contributor: Task8.5; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2;
SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2;
SubTask23.3.3;
43 - Centogene
Name of the legal entity Centogene AG
Expertise, available infrastructure(s)
Centogene has develop a diagnostic multiomic workflow to collect, store, analyse, interpret, and report
molecular data using genome sequencing, whole blood transcriptomics, and targeted (and untargeted)
metabolomics. Historic data from >700.000 patients has been collected and stored in the biodatabank where
more than 400.000 cases have full research consent allowing the production of additional data and the use of
such data in collaborative research. Within the research initiative (T7.3), we will further develop and scale up
dried-bloodspot filtercard-based transcriptomics increasing yield and robustness of this medical device to help
complementing diagnostics and monitoring of patients with rare molecular diseases. As a proof of concept, we
could already show robust performance in hundreds of samples of observations studies (ROPAD and others)
qualifying this sample collection method in analytical know how as an innovative diagnostic device overcoming
typical limitations of current technology (especially regarding robustness, data quality, and comparability) in
routine. Centogene has built up and grown an expert team for low-input diagnostics from global samples (see
above) which high technical and medical expertise. All technical equipment for protocol optimization, product
validation and IVD-registration, as well as a large European and global customer-base of physicians in need of
accurate rare disease diagnostics is at hands.
Main tasks in the project:
Contributor: Task6.3; Task7.1; Task7.2; Task7.3;
44 - CHARITE
Name of the legal entity CHARITE - UNIVERSITAETSMEDIZIN BERLIN
Expertise, available infrastructure(s)
The CHARITE team has well recognized expertise in i) biomarker development, qualification/validation, and
application for in depth analyses of therapy response (core unit, spin-off company, biomarker monitoring of
>100 clinical studies and >70,000 samples, >10 diagnostic products commercially available by diagnostics
companies ); ii) analysis and mitigation strategies of immunogenicity of gene and cell therapy products, iii)
technology platforms for gene and base editing, RNA delivery for cell and gene products, iv) pipeline of novel
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cell and gene therapy products from preclinical to early clinical stage. Moreover, CHARITE team is experienced
in leading national and international network projects, such as EU-funded consortia.
Main tasks in the project:
Leader: Task21.5
Contributor: WP21.0; Task21.2; Task21.3;
45 - CHI
Name of the legal entity CHECKIMMUNE GMBH
Expertise, available infrastructure(s)
CHI is a spin-off company of CHARITE. The CHI team has a strong academic background with extensive
experiences in basic and clinical immunological research. CHI is providing biomarker studies with focus on
novel immunotherapeutics (small molecules, biologics, ATMP) and immunological challenges in other
indication areas. With a track record of more than 50 industry-sponsored trials and 40,000 samples we acquired
an excellent international reputation. CHI team has many years of experience in the preparation and
implementation of biomarker analyses for (pre-) clinical studies, both industry-sponsored and investigator-
initiated ones. CHI offers consultancy and laboratory services to support clinical development from preclinical
studies to clinical trials, including the development, validation and application of immunological biomarkers for
de-risking new drug developments and stratification of patient groups: i) drug candidate selection/validation, ii)
therapy response monitoring (safety, efficacy), iii) mode-of-action, iv) surrogate markers, v) data interpretation
(including medical advice). The laboratory has an accreditation according to DIN EN ISO 15189 and DIN EN
ISO/IEC 17025, is EMA/FDA compatible and passed several audits successfully.
Main tasks in the project:
Contributor: WP21.0; Task21.5;
46 – CHU DIJON
Name of the legal entity CENTRE HOSPITALIER REG UNIVERSITAIRE DIJON
Expertise, available infrastructure(s)
10 years ago, our team was selected to lead TRANSLAD, a University Hospital Federation focused on the
impact of the deployment of genomic medicine for patients with RD and their families. Since then, we have set
up a number of genomic medicine pilot projects and an ES/GS offering in France. Many patients remain
undiagnosed, and are keen to participate in research. On a national level, since 2013, Prof. Faivre have been
tasked by the French Ministry of Health with the coordination the AnDDI-Rares health network. This network
brings together 119 rare disease reference centres, 82 diagnostic labs and 32 research teams for developmental
abnormalities. On a European level, Prof. Faivre lead the 'Training and Education' WG of the ITHACA ERN.
The team also takes part in a number of international collaborations in the context of research projects, which
led to the status as full partner in the European Solve-RD project. Since 2017, Prof. Thauvin led the France
Genomic Medicine Plan in France.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task7.1; Task7.3;
47 – Copenhagen Economics
Name of the legal entity COPENHAGEN ECONOMICS AS
Expertise, available infrastructure(s)
(1) Our Healthcare and Life Sciences team is recognised for its expertise within rare diseases and European
regulation of orphan medicinal products (OMPs). We partnered with Hereditary Angioedema International
(HAEi) and the European Haemophilia Consortium (EHC) to improve rare disease patient access to treatments.
We're a knowledge partner for the European Expert Group on Orphan Drugs and have supported various
companies in pharmaceutical lifecycle aspects.
(2) Over the past several years we have helped research partnerships and grant giving organisations develop
strategies and business plans to improve their organizations and maximize their commercial impacts.
(3) We are one of the leading economics firms in Europe. We have repeatedly been placed among the global top
20 economics firms as rated by Global Competition Review, the leading independent ranker in the economics
world. This reflects our high credibility in the eyes of important stakeholders and decision makers and reinforces
the high impact of our work.
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Main tasks in the project:
Leader: Task1.4;
48 – REGIONH (Copenhagen University Hospital)
Name of the legal entity REGION HOVEDSTADEN
Expertise, available infrastructure(s)
As a group we have more than years’ research experience in rare genetic disorders, which resulted among
others, in identification of disease genes and establishment of genotype-phenotype correlations. We have a total
of approximately 400 publications from our department during the last 5 years. We have all the necessary
laboratory equipment for genetic and functional studies. We good possibility for patient recruitment via access
to a vast array of rare disease patients and diagnoses in our national reference centre for rare diseases. We will
contribute the project as research performers, and we will contribute to the testing/validation of approaches and
ideas. We are deeply involved in education and training of health care providers in different aspects of genetics
and metabolism, and will contribute to the project with our experience and knowledge. We have full access to
the critical infrastructure of our department and hospital as employees of Capital Region of Denmark.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task7.2; Task8.5;
49 – CSO-MOH
Name of the legal entity MINISTRY OF HEALTH
Expertise, available infrastructure(s)
The Ministry of Health bears national responsibility for ensuring the health of the population of Israel. The
ministry determines the policy on matters of health and medical services, and is in charge of planning,
supervision and control, licensing and coordination of the health system’s services. CS -MOH manages and
funds health-related research and is responsible for the regulation of medical research in Israel. CSO-MOH takes
part in 14 European networks and partnerships, including ERA4Health, THCS, TRANSCAN-3 and NEURON
Cofund2. In ERDERA, CSO-MOH will provide financial support to the Joint Transnational Calls and will lead
the tasks on monitoring of the JTC funded projects and the Networking Support Scheme events, as we have
previously done in EJP RD.
Main tasks in the project:
Contributor: Task1.3; Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4;
SubTask3.2.5; Task4.3; Task5.1; Task5.3;
50 - CVBF
Name of the legal entity CONSORZIO PER VALUTAZIONI BIOLOGICHE E FARMACOLOGICHE
Expertise, available infrastructure(s)
Mentoring & consultancy: CVBF can provide expertise on regulatory issues covering requirements for the use
of drug, diagnostics and devices in rare diseases. Methodological support - Clinical trial support & biostatistical
support (beyond Clinical Trials): CVBF can provide Real World
evidence/analysis e.g., epidemiological and pharmacoeconomic studies. Central Services: CVBF can
support/perform the monitoring activities related to the ERDERA performance and impact. Specific expertise in
ATMP.
Support to the implementation of Clinical studies incl.:
- Clinical trial design
- Study start-up (including site selection)
- Regulatory services (study authorization process in CTIS and at local level,
informative material for patients, insurances and contracts with sites,
including substantial amendments)
- Clinical trial management (coordinating sites activation, eCRF training,
central labs selection and management, IMP distribution to sites, biosamples management and clinical
monitoring)
- Data collection and statistical analysis, including plans and reports
- Collection and reporting of adverse events, DSUR preparation and
notification, SUSAR reporting trough EudraVigilance
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- Clinical Study Reports preparation, including lay summaries
Main tasks in the project:
Leader: Task1.3
Contributor: Task10.3; Task11.1; Task11.4; Task24.1; Task24.3;
51 - DDF
Name of the legal entity STICHTING DUCHENNE DATA FOUNDATION
Expertise, available infrastructure(s)
"DDF is collaborating with GO-FAIR (https://www.go-fair.org/) for the FAIR treatment of Duchenne Data.
DDF has prior expertise in statistical modelling, artificial intelligence and machine learning models. DDF has
been also leading tasks related to ethical and legal issues (indicatively privacy, data protection, data governance,
and ethical system design) by designing appropriate plans and strategies in full alignment of the EC Data
Strategy objectives.
Competences:
1.Use of data for the development of computational models for the disease and the in-silicon optimization of
genetic therapies
2.Design and develop technical solutions for data storage and data preparation (modelling, integration,
interoperability, etc.)
3.Provide data storage and publication for Duchenne data and metadata (Fair Data Point is deployed in the DDF
repository)
4.Data and Knowledge management
5. Design, develop, and organize education and training activities on data ethics, FAIR data principles"
Main tasks in the project:
Leader: Task14.3
Contributor: Task9.6; Task13.2; Task20.1; Subtask20.1.1; Task20.3; Subtask20.3.6;
52 - ELS
Name of the legal entity ELSEVIER BV
Expertise, available infrastructure(s)
Our solution is an affordable and reliable to way to 1) monitor research success, 2) showcase research findings
and share with many audiences, and 3) create a database of experts in rare disease research. It is affordable as it
uses off the shelve software used by hundreds of institutions in combination with innovative data management
and a dedicated group of people minding your project. Whatever you and your researchers do well will be
reported to and found by your key audience, whether they are financial backers, peers or patients. Our recent
focus on rare disease research has enabled us to provide a layer of depth and analytics that will guarantee a very
precise overview with many filters/ facets, such as persons, disease, institution, country, etc.
Main tasks in the project:
Contributor: Task1.3;
53 – Erasmus MC
Name of the legal entity ERASMUS UNIVERSITAIR MEDISCH CENTRUM ROTTERDAM
Expertise, available infrastructure(s)
The Erasmus MC is home to one the largest rare disease programs in the Netherlands, and is member of several
relevant ERNs (coordinator of ERN ERNICA and CRANIO (Craniofacial anomalies, are used as use case for
PROM/COA development in the ERDERA WP 9. Task 9.1), active participant in ITHACA (incl. board
memberships and WG leads). As an institution serving a population of > 1.5 million inhabitants in the South-
West of the Netherlands in one of the most ethnically diverse cities in the country, we encounter the whole
spectrum of rare diseases during the life course, from prenatal care to multiple paediatric care clinics in all
relevant specialisms (amongst others within the expertise centre ENCORE and within the largest unit for critical
ill children in the Netherlands), and towards unique clinics focusing on transition towards adulthood and adult
care (incl. CRGS, the first multidisciplinary centre for adults with rare genetic syndromes worldwide, in the
field of internal medicine). Our diagnostics and research laboratories are at the forefront of their fields, including
access to routine diagnostics to diagnose unsolved patients using exome and whole genome sequencing (short
read and long read), RNA-seq, routine metabolics and metabolomics. With many fundamental research groups
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within the Erasmus MC (incl. amongst others dept. of Cell Biology, Neuroscience, Molecular Genetics,
Pathology), and multidisciplinary expertise groups we are uniquely positioned for innovative translational
research benefitting unsolved patients in the context of ERDERA. Specific expertise and resources relevant for
the proposal include well defined clinical rare disease cohorts and biological samples, and state-of-the-art
genomics technologies including options to unravel the role of the non-coding genome in unsolved patients.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task9.1; Task10.1; Task10.3;
54 – F.R.S.-FNRS
Name of the legal entity FONDS DE LA RECHERCHE SCIENTIFIQUE- FNRS
Expertise, available infrastructure(s)
The mission of the Scientific Research Fund - FNRS is to develop basic scientific research within the
framework of initiatives presented by researchers. It promotes the production and development of knowledge by
supporting, on the one hand, individual researchers and, on the other hand, by funding research programs,
evaluated solely on a scientific excellence criterion, carried out in laboratories and services located mainly in the
universities of the Wallonia-Brussels Federation. The F.R.S.-FNRS is also responsible for promoting European
research and innovation programs in which the Wallonia-Brussels Federation participates to researchers, and
supporting researchers for participation in these programs.
The F.R.S.-FNRS has participated in several in multiple Horizon2020 ERA NETs (NEURON, EJP RD, etc.)
and participates in several European partnerships (ERA4HEALTH, THCS, EP PerMed, ...)
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
55 - FHG
Name of the legal entity FRAUNHOFER GESELLSCHAFT ZUR FORDERUNG DER ANGEWANDTEN
FORSCHUNG EV
Expertise, available infrastructure(s)
Fraunhofer has great expertise in the field of RNA-based therapeutics, mRNA formulation technology, and
bioprocess development and GMP production of biomolecules as investigational drugs covering upstream
(production) and downstream (purification) development, analytical method development and validation to
formulation and sterile filling with subsequent stability testing and release for clinical trials. It is thus one of
only a few non-industry locations that combines all the competencies required to transform a biopharmaceutical
idea into an investigational drug for clinical trials. In the field of cell and gene therapy (ATMPs), Fraunhofer has
become a leading institution in Europe. More than 500 products of the cell therapy drug Kymriah® (anti-CD19
CAR-T cells, Novartis) have already been manufactured as a contract. The scalable and robust technological
platform for the development of mRNA therapeutics, AAV, and ATMPs can be provided as infrastructure to the
ERDERA platform.
Main tasks in the project:
Contributor: Task11.3; WP21.0; Task21.1; Task21.2; Task21.3;
56 - FRRB
Name of the legal entity FONDAZIONE REGIONALE PER LA RICERCA BIOMEDICA
Expertise, available infrastructure(s)
Fondazione Regionale per la Ricerca Biomedica (FRRB) is a private law institution established by Lombardy
Region in October 2011.
Its aim is to promote and enhance scientific research in the field of Life Sciences, particularly in the biomedical
field. Having funded more than 100 research projects, both regionally and internationally, FRRB can ensure its
support for boosting progress, research, development and innovation in hospitals, universities and research
centres.
In close collaboration with Lombardy region, the Italian region which invests the most in life sciences, the
Foundation aims to invest local and European resources in innovative basic and translational research projects to
generate positive impact on the local healthcare eco-system and citizens.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
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57 - ECRIN
Name of the legal entity ECRIN EUROPEAN CLINICAL RESEARCH INFRASTRUCTURE NETWORK
Expertise, available infrastructure(s)
ECRIN is a sustainable, not-for-profit, distributed infrastructure that provides support for the planning and
implementation of multinational clinical research projects in Europe. ECRIN provides services for the
management of multinational -investigators initiated and SME sponsored- trials; central services (data
management through ECRIN certified data centres, central vigilance) and distributed services provided by the
ECRIN partner in each country involved (regulatory and ethical submissions and follow-up, monitoring, local
vigilance, project management etc.). ECRIN will participate in WP 17 and WP18 as consultant/mentor to
support partners in clinical operations and in WP20 developing training to support the RD community interested
in setting up multinational clinical trials in Europe
Main tasks in the project:
Leader: SubTask20.3.5
Contributor: Task20.3;
58 - FWF
Name of the FONDS ZUR FÖRDERUNG DER WISSENSCHAFTLICHEN FORSCHUNG
legal entity
Expertise, available infrastructure(s) Expertise, available infrastructure(s)
The Austrian Science Fund (FWF) is Austria's main The Austrian Science Fund (FWF) is Austria's main
funding organisation for basic research. The FWF funding organisation for basic research. The FWF
supports the ongoing development of top-notch supports the ongoing development of top-notch Austrian
Austrian science and basic research based on science and basic research based on international
international standards. standards.
ne of the key objectives guiding the FWF’s ne of the key objectives guiding the FWF’s activities
activities at the international level is to enhance at the international level is to enhance Austria’s
Austria’s international visibility as a research international visibility as a research location. The
location. The FWF’s international programmes FWF’s international programmes include a variety of
include a variety of funding instruments which are funding instruments which are essentially designed to
essentially designed to support bilateral and support bilateral and multilateral research projects as
multilateral research projects as well as international well as international networking.
networking. The FWF will use its prior experience to The FWF will use its prior experience to make an active
make an active contribution to the activities related contribution to the activities related to the joint calls
to the joint calls within the artnership. The FWF’s within the artnership. The FWF’s Department of
Department of Biology and Medicine has Biology and Medicine has participated actively in many
participated actively in many different ERA-Nets. different ERA-Nets. The personnel involved have vast
The personnel involved have vast experience in experience in running joint calls for projects, and in
running joint calls for projects, and in monitoring and monitoring and strategic activities.
strategic activities.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
59 – IFD
Name of the legal entity Innovation Fund Denmark
Expertise, available infrastructure(s)
Innovation Fund Denmark is a Danish public fund which participates in several European and Nordic
collaborations mainly within the areas of health, digital technologies and green transition. As a research funder,
IFD will be involved in the organisation of joint transnational calls for research projects, providing national
funding for successful projects and supervision of project implementation.
Main tasks in the project:
Contributor : Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5
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60 – FSJD-CERCA
Name of the legal entity FUNDACIO PRIVADA PER A LA RECERCA I LA DOCENCIA SANT JOAN
DE DEU
Expertise, available infrastructure(s)
We have experience developing Antisensense Oligonucleotides Therapies and mRNA encoded CRISPR/Cas9:
We have a design of gapmer antisense oligonucleotides to induce, via RNase H recruitment, the silencing of
dominant alleles of collagen VI genes in primary fibroblasts from patients with muscular dystrophy. We have
demonstrated the efficiency of a CRISPR/Cas9 gene editing for correcting dominant mutations in collagen VI
genes (see López-Márquez et al., 2022 in publications). At present we are investigating in vitro and in vivo
delivery systems for this strategy. Within the project we will participate in the WP21, "Technology
Accelerator", where we will test the efficacy in vitro and in vivo and head-to-head comparison of conventional
mRNAs, self-amplifying mRNA and circRNAs. The Institut de Recerca Sant Joan de Déu (IRSJD) is a research
and innovation centre in biomedicine that offers specialised laboratories and equipment that allow our group to
develop and test ATMPs for Rare Diseases.
Main tasks in the project:
FSJD-CERCA
Contributor: Task12.2; WP21.0; Task21.2; Task21.4; Task21.5;
61 - FCT
Name of the legal entity FUNDACAO PARA A CIENCIA E A TECNOLOGIA
Expertise, available infrastructure(s)
FCT is the Portuguese national public agency that supports research in science, technology and innovation in all
areas of knowledge, under responsibility of the Ministry of Science, Technology and Higher Education.
FCT pursues its mission through the attribution, in competitive calls with peer review, of fellowships,
studentships and research contracts for scientists, research projects, competitive research centres and state-of-
the-art infrastructures. FCT ensures Portugal’s participation in international scientific organisations, fosters the
participation of the scientific community in international projects and promotes knowledge transfer between
R&D centres and industry. Working closely with international organisations, FCT ensure the technology and
means for research, for science and for the development of new knowledge, serving a community of students,
teachers and researchers, including through the development of national scientific computing resources.
FCT's role in the project is to act as funding organisation in the Joint Transnational Calls (WP3).
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
62 - MZd
Name of the legal entity MINISTERSTVO ZDRAVOTNICTVI CESKE REPUBLIKY
Expertise, available infrastructure(s)
The Ministry of Health (MZd) is a central authority of the state administration for the health care, public health
protection, health research activities, directly controlled health facilities, handling with drugs, preparations, and
other agents, search, protection and use natural health resources, natural spas and mineral water resources,
medicaments and technical equipment for prevention, diagnostics and treatment of people. Last but not least,
MZd is responsible for health insurance and health information system.
The MZd as beneficiary will provide national funding for successful projects, sign contracts with successful
Czech applicants and receive EC contribution.
Main tasks in the project:
Contributor : Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5
63 - GNT
Name of the legal entity ASSOCIATION GENETHON
Expertise, available infrastructure(s)
Genethon is a not-for-profit organization, created in 1990 by the AFM-Telethon, an association of patients and
patient families, thanks to the French Telethon.
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Dedicated to the fight against rare diseases, Genethon has developed unique expertise in the design and
development of gene therapy products, as well as their pre-clinical and clinical development. Its work is behind
a number of treatments on the market, in clinical trial or at the R&D stage. Expertise on different aspects that are
addressed in the project: AAV design, immuno-modulation, re-dosing, development of efficient and safe gene
editing techniques to treat rare genetic diseases in vivo and ex vivo., AAV process development and
manufacturing, quality standards as well as all regulatory aspects related to clinical development in rare
diseases.
Main tasks in the project:
Leader: Task11.2
Contributor: Task11.3; Task11.4; WP21.0; Task21.1; Task21.2; Task21.4;
64 - GERAD
Name of the legal entity GEORGIAN FOUNDATION FOR GENETIC AND RARE DISEASES
Expertise, available infrastructure(s)
As a representative of the GeRaD, leader organization in the field of rare diseases in Georgia, Oleg Kvlividze
and his colleagues have experience and knowledge in 1. compiling data bases (information on research, clinical
trials, patient organizations, medical professionals, patients registries, etc.); 2. conducting educational
seminars/trainings for doctors, residents, students, nurses and patients on a wide range of the issues related to
RD; 3. access to and fruitful communication with professional and patient communities; engagement of patients
in research and clinical trials activities. GeRaD has created an Advisory Board, which includes the country's top
specialists working on RD. The organization has staff (doctors, patients, lawyers, representatives of civil
society) with strong experience in implementing various programs in the field of RD. As a result of the GeRaD
collaboration with the School of Medicine, New Vision University, the Center on Rare Disease Research was
founded, where several national research/projects on genetics and rare diseases are already underway.
Main tasks in the project:
Contributor: WP24.0; Task24.1;
65 – RS (GMS-GMCK)
Name of the legal entity REGION STOCKHOLM
Expertise, available infrastructure(s)
We have for 10 years carried out large-scale sequencing of patients with rare inherited diseases. We have
technical expertise relating to the molecular analyses, bioinformatic analysis and tools development,
development of clinical decision support solutions as well as large-scale data structuring and management. We
have access in-house to all key steps of the process, including sequencing, HPC for data processing and scalable
data storage systems. We have a gender equality plan.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task7.3;
66 - GUF
Name of the legal entity JOHANN WOLFGANG GOETHE-UNIVERSITAET FRANKFURT AM MAIN
Expertise, available infrastructure(s)
GUF is working in several large research networks and contributes its expertise in interoperability, federated
analysis and software development expertise. Moreover GUF has relevant knowledge in the areas of clinical
decision support, registry implementation and usability. Within EJP RD, GUF developed the domain specific
common data elements to improve developing a core dataset as well as contributed largely to developing the
VP-Portal.
Main tasks in the project:
Contributor: Task13.2;
67 - HRB
Name of the legal entity THE HEALTH RESEARCH BOARD
Expertise, available infrastructure(s)
HRB is research funder. HRB was beneficiary and research funder within the European Joint Programme on
Rare Diseases.
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HRB is also Involved as a research funder in the Genomics Data Infrastructure Project launched in November
2022. The project will make data accessible for research, clinical reference and policy development uses. HRB
is involved in Pillar I on the legal framework and business models required to support European and national
infrastructure operations.
The organization will participate in the partnership as a funder in joint transnational calls.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Task4.1; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2; SubTask23.2.1;
SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2; SubTask23.3.3;
WP24.0; Task24.1; Task24.3;
68 - IBG
Name of the legal entity IZMIR BIYOTIP VE GENOM MERKEZI
Expertise, available infrastructure(s)
Izmir Biomedicine and Genome Center (IBG, www.ibg.edu.tr) is an advanced biomedical research and
innovation centre with modern, state-of-the-art infrastructure and facilities, which are exceptional in Turkey in
regard to quality, size and their unique composition. Furthermore, IBG is only CoE in the biomedical field
making IBG the prime address for biomedical research in Turkey. IBG houses totally 30 basic and transnational
research program, technological research program, industrial R&D program working on biomedicine and
genome sciences. This multidisciplinary, cooperative nature is seen as a strong asset to address complex
scientific questions. IBG will provide access to its state-of-the-art core facilities and services. In addition,4
technology platforms will be at disposal; IBG-BIP (Bioinformatics), IBG-Pharma (Biomedicine development),
IBG-Nevcell (Steam cell and gene therapeutics) and IBG-Biobank (Biobanking facility and national node for the
BBMRI-ERIC.IBG plans to spearhead and coordinate a national rare disease registry and repository including
curated data and patient material.
Main tasks in the project:
Leader: Task20.4; SubTask20.4.6; Task24.2;
Contributor: Task6.2; Task6.3; Task7.1; Task7.2; Task7.4; Task8.4; SubTask20.4.1; SubTask20.4.2;
SubTask20.4.3; SubTask20.4.4; SubTask20.4.5; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2;
SubTask23.1.3; Task23.2; SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3;
SubTask23.3.1; SubTask23.3.2; SubTask23.3.3; Task24.1; Task25.1;
69 - Rannis
Name of the legal entity RANNSOKNAMIDSTOD ISLANDS
Expertise, available infrastructure(s)
Rannis administers the main public competitive funds in the fields of research, innovation, education and culture
in Iceland.
Rannis coordinates and promotes Icelandic participation in European cooperation programmes, such as Horizon
Europe, Erasmus+ and Creative Europe, as well as other international programmes.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
70 - IMAGINE
Name of the legal entity IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS
MALADES FONDATION
Expertise, available infrastructure(s)
Established in 2007 as a Scientific cooperation foundation, by the Assistance Publique-Hôpitaux de Paris (AP-
HP), the French National Institute of Health and Medical Research (Inserm), the Université Paris Descartes, the
French Muscular Dystrophy Association (Association française contre les myopathies (AFM), the Fondation
Hôpitaux de Paris-Hôpitaux de France and the Mairie de Paris, the Imagine Institute of Genetic Diseases
(http://www.institutimagine.org/en/) was accredited with Institut Hospitalo-Universitaire (IHU) status in 2011
and Institut Carnot status in 2019 under France's major Investment for the Future program. Its missions –
patient-focused research, innovative care, education, training, and technology transfer – have the common goal
of establishing better treatment and innovation in care pathway (“parcours patient”) for patients with genetic
diseases. This project builds on a critical mass of experts – 1000 scientists, doctors, technicians, paramedical
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personnel, and therapeutic innovation professionals – established, all in one place in the Imagine building and
the Necker-Enfants malades hospital campus, which takes care of patients and their families to provide them
with the diagnostic and therapeutic solutions. 31 rare disease reference centres are affiliated to the institute. The
institute has developed a strong expertise in genetic diagnostic, genome sequencing and analysis, rare variant
analysis, gene editing, gene therapy, management of translational activity and development, management and
consultancy in the RD research value chain, management of the innovation ecosystem. Imagine was involved in
several training activities of the EJPRD programme and hosted the Eurordis Winter School for several years.
The institute will (1) Participate to the diagnostic research and genome analysis in WP7 Task 7.2: Standardised
exome and genome re-analysis beyond state-of-the-art diagnostics), and in WP15 Task 15.3: Technical support
for international genome-phenome federated analysis), (2) Participate to the execution of the mentoring
programme (task 17.1) with the constitution of a database of multi-disciplinary experts, to patients and young
researchers' training (task 20.1), (3) participate in the comparative evaluation of gene editing technologies and
deliveries modalities in therapeutically relevant model systems of paradigmatic rare diseases (task 21.4)
ACCESS. Numerous technical platforms are available at Imagine and Necker campus including genomics-
sequencing, bioinformatics, mice/fish facilities, transgenic and knock-out mice facility, imaging (super
resolution (STED) and TIRF microscopes), iPSC and Proteomics. All these platforms provide expertise and
training (individual training or core courses).
Imagine will screen optimized gene editing and delivery reagents in human hematopoietic stem/progenitor cells
(HSPCs) from patients with sickle cell disease (SCD), a disorder characterized by the abnormal production of
haemoglobin that causes the formation of sickle-shaped red blood cells (RBCs). We will assess editing
efficiency by next generation sequencing (NGS) and functional correction of erythroid cells by evaluating
haemoglobin production ad by performing erythroid differentiation and sickling assay to estimate the frequency
of abnormally shaped RBCs. The best-performing gene editing and delivery reagents will be tested in vivo to
specifically target human HSPCs engrafted in immunodeficient mice. Editing efficiency and functional
correction will be assessed in the progeny of long-term repopulating SCD HSPCs as described above for the in
vitro experiments. The outcome of the study will be the development of a safe and efficacious therapeutic
strategy for SCD.
The Clinical Bioinformatics Laboratory of the Institut Imagine, headed by Dr Antonio Rausell, develops
statistical and machine-learning methods and bioinformatics pipelines for the computational assessment of
human rare genetic variants in rare disease patients. Emphasis is dedicated to non-coding single nucleotide
variants and structural variants with potential regulatory impact. The laboratory has recently developed a suite of
machine learning and federated learning methods and best practices guidelines, mining clinical, genetic and
multi-omics data. The Laboratory will contribute as a participant in WP7 Task 7.2: Standardised exome and
genome re-analysis beyond state-of-the-art diagnostics, and in WP15 Task 15.3: Technical support for
international genome-phenome federated analysis. Objectives will be the re-analysis of existing data through
centralised and distributed approaches to discover novel genome-phenome associations in previously
undiagnosed rare disease patients.
Main tasks in the project:
Contributor: Task7.2; Task7.3; Task15.3; Task20.1; Subtask20.1.2; WP21.0; Task21.4;
71 – IGC PAN
Name of the legal entity INSTYTUT GENETYKI CZLOWIEKA POLSKIEJ AKADEMII NAUK
Expertise, available infrastructure(s)
The Institute of Human Genetics Polish Academy of Sciences (IHG PAS) is a key research centre in its field in
Poland with broad scientific expertise in research on functions of the genome, transcriptome, epigenome as well
as the molecular basis and epidemiology of genetic diseases. Research at the IHG PAS is aimed at elucidating
the molecular basis of diseases, with particular emphasis on rare genetic diseases. Basic research carried out at
the institute has both cognitive aspect, as well it can be applied in the diagnostics and treatment of diseases. The
institute's role in the project is the provision of research and infrastructure, with the Innovative Medical Centre
(IMC) or Laboratory for Advanced Tissue Models Imaging in place. The IMC uses the latest techniques such as
DNA/RNA sequencing, spatial transcriptomics and single-cell analysis. The Centre is a certified provider of
10X Genomics Visium Spatial Gene Expression and a registered medical diagnostics laboratory
Main tasks in the project:
Contributor: Task6.2; Task6.3;
72 - ISCIII
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Name of the legal entity INSTITUTO DE SALUD CARLOS III
Expertise, available infrastructure(s)
ISCIII is the Public Research Organization of the Spanish Government responsible for funding and executing
national biomedical research. It depends on the Ministry of Science, Innovation and Universities (MCIU),
although it is also attached to the Ministry of Health, Consumption and Social Welfare (MSCBS). ISCIII created
a specific centre for research on rare diseases (RD) in Spain, 2 decades ago, on the basis of long experience of
its researchers, and the qualitative and quantitative importance of RD. It has participated in the different E-Rare
initiatives and in the EJP RD (European Joint Programme on Rare Diseases), where ISCIII co-leaded 10% of its
work packages and participated in 3 of 4 pillars. ISCIII is member of the Funders Constituent Committee of
IRDiRC and is fully aligned with its 3 goals on diagnosis, therapies and their impact. ISCIII will participate in
the ERDERA hosting one Joint Transnational Call secretariat, contributing to the definition of the call topics
(co-leading task), leading a task in the Genomic research re-analysis pipeline, co-leading 2 subtasks on
Education and research training, co-leading in the Public-private collaboration accelerator, and contributing to
NMGs promotion and national alignment in Spain.
Main tasks in the project:
Team IIER
Leader: Task3.1; Task7.3; SubTask20.4.4; SubTask20.4.6; Task22.1
Contributor: Task1.3; Task3.3; Task6.1; Task7.1; Task7.4; Task9.1; Task20.4; SubTask20.4.1; SubTask20.4.2;
SubTask20.4.3; SubTask20.4.5; Task22.3; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3;
Task23.3; SubTask23.3.2; SubTask23.3.3; Task25.1;
Team SGPIRI
Leader: Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5
Contributor: Task3.1; WP23.0; Task23.2; SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4;
Task23.3; SubTask23.3.1;
73 - INSA
Name of the legal entity INSTITUTO NACIONAL DE SAUDE DR. RICARDO JORGE
Expertise, available infrastructure(s)
INSA develops its activity as the Portuguese State Laboratory, National Reference Laboratory and National
Observatory of the health sector. INSA collaborates with the ministry of health regarding legislation for rare
diseases and genetics laboratories and it also actively collaborates in the national integrated strategy for rare
diseases. INSA will coordinate the ortuguese National Mirror Group. INSA’s Human Genetics Department has
contributed for more than 3 decades now to the diagnosis and research of a large set of RD, including inherited
metabolic diseases, thalassemia, haemophilia, among others. It is the major Portuguese centre in the diagnosis of
RD (including the Portuguese Newborn Screening Program). A great effort has also been put in fostering the
research activities involving all aspects of these pathologies and, as a consequence, INSA’s team includes
experts that have accumulated a large and very significant experience on RD that will be quite useful for RD
partnership.
Main tasks in the project:
Contributor: WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2; SubTask23.2.1;
SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2; SubTask23.3.3;
74 - IOR
Name of the legal entity ISTITUTO ORTOPEDICO RIZZOLI
Expertise, available infrastructure(s)
Strong track record of participation to international consortia (European Joint Programme on Rare Disease);
Coordinator of ERN BOND; Competent Authority for Italy in the Joint Action for ERN Integration in the
national healthcare systems JARDIN; Multiple years expertise in participation to Rare Diseases research
projects consortia both as coordinator and participant; Organization of scientific meetings; Public-private
partnership; education through the creation of multiple online open courses.
Main tasks in the project:
Contributor: Task25.4;
75 - ISS
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Name of the legal entity ISTITUTO SUPERIORE DI SANITA
Expertise, available infrastructure(s)
ISS is the technical-scientific body of the National Health Service (NHS) and pursues the protection of public
health, in particular through carrying out research, control, advisory, regulatory and training functions. ISS in
the ERDERA will be involved in "Education and training activities in rare diseases research" (WP 20) and in
"Data readiness services" (WP14). In both WPs ISS will organize or contribute to training activities mainly
focused on FAIRification of Data and Data management on RD Registries.
ISS, in particular the involved staff, have extensive experience in RD registries, Bring Your Own Data on FAIR
and training activities. In EJP RD, for example, ISS (Claudio Carta), coordinated the WP "training on data
management and quality" and different tasks focused on organizing BYOD on "FAIRification of data at the
source," and courses on rare disease data and registries.
Main tasks in the project:
Leader: Subtask20.3.6
Contributor: Task14.1; Task20.3; Task20.4; SubTask20.4.1; SubTask20.4.2; SubTask20.4.3; SubTask20.4.4;
SubTask20.4.5; SubTask20.4.6;
76 -IT-MOH
Name of the legal entity MINISTERO DELLA SALUTE
Expertise, available infrastructure(s)
The Ministry of Health (IT-MoH) is the central body of the National Health Service and, as such, performs the
functions belonging to the State regarding the protection of human health, the coordination of the National
Health System. The Ministry of Health develops guidelines in the field of prevention, care and research in
different health sectors and oversees National Health activities.
The Ministry of Health is the main public body funding biomedical research and biomedical innovation in Italy,
while also overseeing research policy and stimulating the use of the generated knowledge in order to help
improving the population well-being and the healthcare system in Italy. In particular, through yearly calls IT-
MoH funds research for the improvement of the population’s health through the rapid translation of research
results into new or improved preventive, diagnostic, and treatment products and processes, and incorporation
into health policies and practice.
At the international level, the Ministry of Health is involved in all EU Joint Actions accompanying measures
(standardization, dissemination, policy, dialogues etc) and is also the governmental body of connection with the
World Health Organization, the European Commission (health sector), the European Medicines Agency and
OECD. IT-MoH is also involved in multiple European projects supporting research. In particular, as regards
Horizon2020, it is involved in a wide range of ERA-NETs and CSAs (e.g. Euronanomed 2&3, ERACoSysMed,
ERA-CVD, JPIAMR Action, ERA-PERMED and CSA on Personalised Medicine) and Joint Programming
initiatives (JPND, JPI MYBL, EJP RD and JPIAMR). It is also committed to supporting EU projects for the
development of the European Strategy Forum on Research Infrastructures (ESFRI) in the health research sector
(ECRIN, EATRIS, BBMRI).
The Ministry of Health coordinates the EU Partnership on Transforming Health and Care Systems (THCS
Partnership) under the Horizon Europe EU R&I framework programme, and takes part to other relevant
Partnership under Horizon Europe (BeReady, EpPerMed, OHAMR, Era4Health)
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Task4.3;
77 -KU Leuven
Name of the KATHOLIEKE UNIVERSITEIT LEUVEN
legal entity
Expertise, available infrastructure(s) Expertise, available infrastructure(s)
Gert Matthijs is a molecular geneticist and head of the Gert Matthijs is a molecular geneticist and head of the
Laboratory for Molecular Diagnostics at the Center for Laboratory for Molecular Diagnostics at the Center for
Human Genetics at UZ Leuven. He is involved in the Human Genetics at UZ Leuven. He is involved in the
genetic diagnosis of congenital genetic diseases. genetic diagnosis of congenital genetic diseases.
He coordinates EuroGentest, a European network for He coordinates EuroGentest, a European network for
the improvement and harmonization of genetic the improvement and harmonization of genetic
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diagnostics. The network focuses on the clinical, diagnostics. The network focuses on the clinical,
societal and ethical aspects of genetic research, and on societal and ethical aspects of genetic research, and on
the development of new technologies and new genetic the development of new technologies and new genetic
tests. tests.
His scientific research focuses on 'Congenital His scientific research focuses on 'Congenital
Disorders of Glycosylation (CDG)', a group of rare Disorders of Glycosylation (CDG)', a group of rare
inborn errors of metabolism caused by errors in the inborn errors of metabolism caused by errors in the
production of glycoproteins. His group is mainly production of glycoproteins. His group is mainly
engaged in a systematic search for new forms of these engaged in a systematic search for new forms of these
disorders and also tries to unravel the underlying disorders and also tries to unravel the underlying
pathophysiology through cell and animal models. In pathophysiology through cell and animal models.
the context of applied research, the laboratory mainly In the context of applied research, the laboratory
focuses on the development and validation of new mainly focuses on the development and validation of
methods for genetic research based on next generation new methods for genetic research based on next
sequencing. Gert Matthijs has access to various large generation sequencing. Gert Matthijs has access to
scale infrastructure (biobanks, omics platform, NGS various large scale infrastructure (biobanks, omics
platform) and is part of the University hospital. platform, NGS platform) and is part of the University
hospital.
Main tasks in the project:
Leader: Task7.4; Task21.1
Contributor: Task6.2; Task6.3; WP21.0;
78 - LZP
Name of the legal entity LATVIJAS ZINATNES PADOME
Expertise, available infrastructure(s)
LZP will be involved in organization of joint transnational calls for research projects, providing national funding
for successful projects, supervision of project implementation
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
79 – MAPI Research Trust
Name of the legal entity MAPI RESEARCH TRUST
Expertise, available infrastructure(s)
Mapi Research Trust (MRT) is a non-profit organisation with a worldwide and sound PCOMs expertise. MRT
has developed over the past 25 years a unique and comprehensive database of PCOMs, PROQOLID™,
providing information on the conditions of use, translations, populations of intended use and development and
validation process of 6000 PCOMs. PROQOLID™ is a hub for various RD databases: 1/ For each PCOMs
described in ERICA RD PCOMS Repository, a link to PROQOLID™ is provided 2/ similarly, in Orphanet
diseases database, for each RD with a PCOMs developed, a link to PROQOLID™ is reported. As a continuity of
its work in ERICA project, MRT will provide their database expertise by continuing developing and expanding
the functionalities of the RD-PCOMs repository in the ERDERA Virtual Platform (WP16.1). PCOMs and
database expertise, as well as PCOMs unique database PROQOLID, makes MRT a key stakeholder in ERDERA
in better assessing what matters for patients with RD.
Main tasks in the project:
Leader: Task16.1
Contributor: Task10.1;
80 - MUS
Name of the legal entity MEDICAL UNIVERSITY SOFIA
Expertise, available infrastructure(s)
Molecular Medicine Center (MMC) is the main genomics research infrastructure of Medical University Sofia,
Bulgaria. MMC offers biobanking, genetic, genomic services and has the capacity for WGS. Our biobank is the
national hub of BBMRI-ERIC and hosts collections of samples and data from patients with rare diseases. We are
partners in international consortia/networks (ICC, UDNI) and projects (GDI, EvolveBBMRI, JARDIN). The
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Genome Diagnostics Laboratory (GDL) at MMC has extensive expertise and offers CES, WES, microarray
analysis, as well as other diagnostic tests. We provide efficient pre- and postnatal genetic diagnosis to patients
with rare inherited disorders, and genetic counselling to their families. We will contribute data of the
undiagnosed cases and our expertise to the Clinical Research network (CRN), WP6, WP7 (Data readiness and
Genomic Research re-analysis pipeline) and the connected to them packages for Data Services Hub, as well as
to the International capacity alignment WP.
Main tasks in the project:
Contributor: Task6.2; Task6.3;
81 - MUH
Name of the legal entity FAKULTNI NEMOCNICE V MOTOLE
Expertise, available infrastructure(s)
Dept. of Biology and Medical Genetics (www.fnmotol.cz) is the largest academic medical/molecular genetics
institution in Czechia and serves the National Coordination Centre for Rare Diseases (NKCVO) responsible for
the implementation of a 10-year national strategy/action plans and having a state of the art genomics facility.
NKCVO assured that Czechia is first within EU13 in terms of participation in the European Reference Network
(ERN) for rare diseases (RD). NKCVO is chairing the national RD Task Force at the Min. Health and is a
“clearing centre” for disseminating knowledge from various international projects on RD-related
research/diagnostics (RD-connect.eu, Eurogentest.org, Solve-RD.eu) to the Central and Eastern European
countries, including the Middle East. Prof. Macek is involved in the European Board of Member States for
ERNs for RD, including the newly formed EU Advisory Board on ERN Sustainability, with a particular focus
on underdeveloped regions in the EU, and beyond.
Main tasks in the project:
Leader: Task8.1
Contributor: Task6.2; Task6.3; WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2;
SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2;
SubTask23.3.3;
82 - MUR
Name of the legal entity Ministero dell'università e della ricerca
Expertise, available infrastructure(s)
MUR is the Italian ministry responsible for the definition of the National Research Programme, it manages most
of the Public research programmes, Universities and many Research institutes. MUR is participating to the
European Joint Programme on Rare Diseases; it has funded the first two calls. MUS has also participated to
many Eranets cofund and it is participating in most of the new European partnerships. MUR is coordinating the
Partnership on Sustainable Blue Economy; it provides the electronics submission platform for the partnerships
Water4All and Clean Energy Transition. MUR is also managing the Call secretariat for Water4All.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
83 - NCBR
Name of the legal entity NARODOWE CENTRUM BADAN I ROZWOJU
Expertise, available infrastructure(s)
NCBR is a research funding agency. NCBR has participated as a funding agency in a wide variety of
international research funding collaborations, including ERA-NET programmes from H2020 and before
(ERA4Health, ERA PerMed, EuroNanoMed; Neuron Cofund, THCS). NCBR is part of the 1st joint call
secretariat of THCS and is responsible for organisation of the call, in particular preparation of call documents,
proposal assessment process or Peer Review Panel meeting in Warsaw. NCBR has extensive experience with
joint-funded calls and management of research projects.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
84 - NKUA
Name of the legal entity ETHNIKO KAI KAPODISTRIAKO PANEPISTIMIO ATHINON
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Expertise, available infrastructure(s)
Our laboratory specializes in variant interpretation and genotype-phenotype correlation. Variant interpretation is
not only limited to SNVs but also any kind of genetic variation, genetic or epigenetic. Our laboratory has several
specialized departments and our members actively participate in ClinGen committees. Additionally, we have an
outpatient clinic that sees patients with any type of genetic disorder and we function as the de facto genetic
service of the biggest children hospitals in Greece providing the necessary clinical insight for the clinical
validation of molecular findings.
Our role in the project will be in data analysis and interpretation. Our scientific personnel have extensive
expertise in variant analysis, pathogenicity estimation and designing specific strategies that lead to new gene
discoveries.
We have access to all the necessary infrastructure as we use it for our daily functions
Main tasks in the project:
Contributor: Task6.2; Task6.3;
85 -MoH SR
Name of the legal entity MINISTERSTVO ZDRAVOTNICTVA SLOVENSKEJ REPUBLIKY
Expertise, available infrastructure(s)
Since 2011 SR has had an expert group at the MoH SR for rare diseases. However, this expert group is missing
some representatives, such as the scientists. One of the advantages of the involvement of SR in this proposal will
be to create and National mirror group in line with the European criteria, including all stakeholders. In the case
of scientists' involvement, this could mean creating stronger interactions between healthcare and scientific
research in rare diseases. Further advantages might be to support other activities and develop the National mirror
group in line with the European requested criteria. Slovakia is still in most of the European projects an
underrepresented country, thus it necessarily needs to create interconnections in all fields. On the other hand, the
more than 10 years of experience of Slovak experts with rare diseases might be helpful and inspirative for other
countries mainly in the promotion of National Mirror groups and national alignment. MoH supports ERN.
Main tasks in the project:
Contributor: Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2; SubTask23.2.1;
SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2; SubTask23.3.3;
86 - RDG
Name of the legal Rare diseases Greece
entity
Expertise, available infrastructure(s)
Rare Diseases Greece / RDG is a non-profit Association based in Athens covering the entire Greek territory,
with 30 members non-profit organizations representing patients with rare diseases throughout the country.
RDG is the largest organization of associations dealing with rare diseases in Greece, with representatives in
Committees and Working Groups, such as the Committee for Rare Diseases, the Working Group for Rare
Diseases for Rare Disease Patient Registry and Treatment Protocols, as well as the Pharmaceutical Expenditure
Monitoring Committee of the Ministry of Health. RDG is the official representative body of Greece abroad, a
member of the EURORDIS and the Council of National Associations of Europe through the Council of National
Alliances. RDG will be responsible to build and manage the multistakeholder National Mirror Group (NMG),
supporting in parallel the Communication, Dissemination and Engagement of the National stakeholder to secure
the success of the project
Main tasks in the project:
Contributor: Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2; SubTask23.2.1;
SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2; SubTask23.3.3;
87 – REGIONSYD
Name of the legal entity Region Syddanmark
Expertise, available infrastructure(s)
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Dept. of Clinical Genetics of Odense University Hospital is an accredited diagnostic centre with a genetic
counselling clinic, a Center for Rare and Complex Diseases, and a fully equipped genetic lab. The project team
of clinical experts and bioinformaticians are skilled researchers in rare disease genetics. Our approach involves
genome sequencing of patients, cohorts, and advanced analysis techniques for novel diagnoses. We emphasize
systematic reanalysis of existing data and exploring new genomics' potential. While primarily engaged in WP7,
we also support WP6 and WP8.aWe have access to local and national critical infrastructure for specialized
bioinformatics analysis and variant interpretation. Our local resources include the advanced Illumina DRAGEN
on-premises server for genomic analysis, and we have direct access to the Danish National Genome Centre’s
HPC infrastructure and Variant Interpretations Platform, which houses advanced tools for efficient, high-quality
interpretation of large scale genomic data.
The Clinical Genetics Department of Vejle Hospital, an accredited diagnostic centre, features electronic patient
records and laboratory information system. It houses a counselling clinic and a fully equipped molecular
genetics laboratory staffed by experienced clinical and research professionals, including bioinformaticians. Our
team specializes in rare diseases genetics. We aim to identify novel diagnoses by conducting genome
sequencing on patients in our clinic, systematically gathering patient cohorts, and enhancing standard analyses
with various complementary approaches. Our access to local and national critical infrastructure empowers us for
advanced bioinformatics and precise clinical variant interpretation. We have direct access to the Danish National
Genome Centre’s HPC infrastructure and NGC Variant Interpretations Platform for detailed diagnostic
interpretation of extensive genomic data.
Main tasks in the project:
Contributor: Task6.2; Task6.3;
88 - OPBG
Name of the legal entity OSPEDALE PEDIATRICO BAMBINO GESU
Expertise, available infrastructure(s)
Marco Tartaglia is co-chair of the WG “Rare Diseases” of the EC’s 1+MG rogram (https://digital-
strategy.ec.europa.eu/en/policies/1-million-genomes), and co-chair of the “research” WG of ERN-ITHACA
(https://ern-ithaca.eu/) with the aim of facilitating collaborative research to understand rare genetic disorders,
data- and knowledge sharing and establishing training programs. His research has been directed to elucidate the
genomic bases of rare diseases, allowing the identification of more than 40 novel disease genes and a similar
number of previously unclassified human diseases, including a newly described disorder with his name, Radio-
Tartaglia syndrome (MIM: 619312). Besides gene identification interests are related to understanding the
mechanisms of disease, and clinical variation and natural history of RDs. He has pioneered the genomics of
“RASopathies”. His track-record counts more than 400 publications, and his H-index is 63, with more than
17,000 citations, according to Scopus.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task8.5;
89 - OSR
Name of the legal entity OSPEDALE SAN RAFFAELE SRL
Expertise, available infrastructure(s)
SR-TIGET is a world-recognized centre of excellence for research and clinical translation of Cell and Gene
Therapy. The Institute is located within the OSR campus, which includes a large multi-disciplinary research
hospital, a biomedical research centre, the Vita-Salute university and also hosts several biotechnologies
companies. Over the years, SR-TIGET has given a pioneering and continued contribution to the gene and cell
therapy field with relevant discoveries in vector design, gene transfer and gene editing strategies, stem cell
biology, identity and mechanism of action of regulatory cells in immune responses and innate immune cells in
cancer. SR-Tiget team, taking advantage of adequate institutional infrastructure and advanced technological
facilities, will contribute to the partnership developing improved gene editing approaches towards therapy of
rare diseases and will assess the therapy response of candidate technologies focusing on immune response.
Main tasks in the project:
Leader: Task21.4
Contributor: WP21.0; Task21.5;
90 -JSI
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Name of the legal entity INSTITUT JOZEF STEFAN
Expertise, available infrastructure(s)
The leading Slovenian scientific research institute, covering a broad spectrum of basic and applied research. The
staff specializes in natural sciences, life sciences and engineering. The mission is the accumulation and
dissemination of knowledge at the frontiers of natural science and technology to the benefit of society at large
through the pursuit of education, learning, research, and development of high technology at the highest
international levels of excellence. Involved departments have expertise in different areas of artificial
intelligence. The Centre for Knowledge Transfer in IT performs educational, promotional and infrastructural
activities. The Centre is also the UNESCO Chair on Open Technologies for Open Educational Resources and
Open Learning. Moreover, the International Research Centre on Artificial Intelligence (IRCAI) under the
auspices of UNESCO is a coordination point, funding route and exploitation accelerator for approaches to the
UN SDGs that make use of AI.
Main tasks in the project:
Contributor: Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2; SubTask23.2.1;
SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2; SubTask23.3.3;
91-RCN
Name of the legal entity NORGES FORSKNINGSRAD
Expertise, available infrastructure(s)
The Research Council of Norway (RCN) is the national research strategy and research funding body. RCN
distributes annually around 1 billion EUR for research purposes. RCN is the most important research policy
adviser to the government, the ministries and other central institutions and environments with connection to
research and innovation. RCN has a special responsibility for following up the government's long-term plan for
research and to implement national research policy decisions through financing schemes. In collaboration with
the research communities, the business community and the public sector, RCN works to give Norwegian
research an economic and quality boost, and to promote innovation and knowledge. RCN works for greater
international collaboration and increased participation in Horizon Europe. Other tasks include creating meeting
places for researchers, trade and industry, public administration, public actors, and other users of research.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
92 - FWO
Name of the legal entity FONDS VOOR WETENSCHAPPELIJK ONDERZOEK-VLAANDEREN
Expertise, available infrastructure(s)
The Research Foundation - Flanders (FWO) is the funding agency that supports fundamental and strategic basic
research at the universities and research centres of the Flemish Community, within Belgium. As a research
funder, the FWO participation in the Rare Diseases partnership will be aimed at participating in joint
transnational (co-funded) calls for research. The FWO participation remains mostly limited to the funding of its
research community. No leading role in the partnership and its tasks is foreseen consequently.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
93 - REUH
Name of the legal entity RIGAS AUSTRUMU KLINISKA UNIVERSITATES SLIMNICA SIA
Expertise, available infrastructure(s)
The Riga East University Hospital (REUH) is one of the largest hospitals in the Baltic region, providing medical
services, treatments, and specialized care. The hospital is affiliated with Riga Stradiņš University and University
of Latvia. REUH has expertise in various medical fields, including rare diseases. Head of Rare disease centre is
Dr Baiba Lace, clinical geneticist and a researcher known for her work in rare neuromuscular disorders,
particularly focusing on their genetic and molecular aspects. The role of the current project is to identify
problems related to under- representation of some of EU countries in the previous rare disease projects, and to
develop instruments to overcome it in future. Additionally, REUH will be partner of rare disease clinical
research network. REUH has necessary equipment, computing resources and facilities for the rare disease
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research. In terms of the technical expertise, the team members are proficient in operating the infrastructure. It
has collaborative partnerships with National and International Health institutes and Universities. REUH operates
within legal and ethical frameworks and can offer support with project governance, financial planning and
allocation of resources.
Main tasks in the project:
Leader: Task24.1
Contributor: Task6.2; Task6.3;
94 - RIF
Name of the legal entity IDRYMA EREVNAS KAI KAINOTOMIAS
Expertise, available infrastructure(s)
RIF is the national agency responsible for promoting and supporting research, technological development and
innovation in Cyprus. Part of its role is to coordinate the participation of Cyprus in European research and
innovation activities, including the following: EU Framework Programmes, COST Programme, EURAXESS
Network, EUREKA, Enterprise Europe Network (EEN), European Partnerships and Missions.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Task24.3;
95 -RCSI Dublin
Name of the legal entity ROYAL COLLEGE OF SURGEONS IN IRELAND
Expertise, available infrastructure(s)
We have extensive expertise in the generation and analysis of genomic sequence data (DNA and RNA) in the
context of rare disease risk factor identification and diagnosis. We have facilitated a positive molecular
diagnosis in over 270 patients with rare disease (in Ireland). We have aided in the identification of multiple
novel rare disease genes and risk factors (through NGS and GWAS studies). We have extensive experience of
requirements gathering, deployment and testing of genomics-related software for clinical integration. We have
designed and integrated one of the first genomics modules for an electronic health record system (to the best of
our knowledge, the first for epilepsy).
Main tasks in the project:
Contributor: Task6.2; Task6.3;
96 - RSU
Name of the legal entity RIGAS STRADINA UNIVERSITATE
Expertise, available infrastructure(s)
RSU is a university that uses a modern quality improvement approach ensuring high study and research quality,
focused on continuous improvement and development. RSU is the leader in medical education and research in
Latvia. The project will involve the Scientific Laboratory of Molecular Genetics which has expertise mainly
with genetics of the RD, experience in innovation, and commercialization of innovation. RSU has all the
necessary infrastructure to perform RD studies starting from the material collection, storage, isolation, analysis,
and bioinformatic analysis that is performed in strong collaboration with the Rare Neurological Disease Center
at P. Stradins University Hospital and other clinical units and specialists in Latvia working in RD field. RSU
will participate with the contribution of data in unsolved cases, will take part in creating a European curriculum
in RD research, and will contribute to unlocking the underrepresented countries' potential in RD research.
Main tasks in the project:
Contributor: Task20.4; SubTask20.4.1; SubTask20.4.2; SubTask20.4.3; SubTask20.4.4; SubTask20.4.5;
SubTask20.4.6; Task24.2;
97 - SCIENSANO
Name of the legal entity SCIENSANO
Expertise, available infrastructure(s)
SCIENSANO will be participating in WP9 - Real World Data and more specific Task2.9: Use of population-
based data for RD outcome research. We already have the necessary expertise and data capture infrastructure in
our institute; hence, we were contacted by BE HCP to create the Belgian Registry for Hirschsprung's disease
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conform with the initiatives that are undertaken on the ERN ERNICA level. Subsequently, we would like to link
patient data (demographics, symptoms, diagnostics, surgical therapy and long-term follow-up until adolescence,
...) with a PROM validated questionnaire filled out by patients/carers to ensure long-term follow-up on QoL
aspects. In order to improve data quality and completeness, a Source Data Verification link will also be provided
to the IMA/AIM (InterMutualistisch Agentschap/Agence InterMutualiste) which is the BE Institute collecting
detailed data on healthcare and drug reimbursement by 7 BE mutual insurance companies. Data elements to be
collected from IMA/AIM include: (1) information on additional surgeries; (2) readmissions linked to abdominal
problems; (3) identification of contacts of patients with other healthcare professionals such as physiotherapist,
...; (4) information on treatments / drugs provided to the patients. Sciensano will be responsible for the creation
of the registry, data capture, validation, analyses and linkage to the IMA database.
SCIENSANO is also leading Task 10.3 on the quantification of the socioeconomic impact of rare disease, based
on our experience in burden of disease assessment
Main tasks in the project:
Leader: Task10.3
Contributor: Task9.2;
98 - SPW
Name of the legal entity SERVICE PUBLIC DE WALLONIE
Expertise, available infrastructure(s)
The Service Public de Wallonie (Belgium) is a public agency. The Research Programs Direction coordinates,
develops and manages regional, federal and international research programs. It evaluates, finances and monitors
research projects introduced by universities, high schools, approved research centres or Walloon companies, and
submits notices of opportunity, while evaluating the impact of these projects.
Our role in ERDERA is thus the funding of research projects.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
99 - SFU
Name of the legal entity SIGMUND FREUD PRIVATUNIVERSITAT WIEN GMBH
Expertise, available infrastructure(s)
Prof. Dr rer. medic. Nicole Heussen is biostatistician. Her methodological research interest centres around the
design of clinical studies and randomization based inference. Both topics are highly relevant for planning,
conduct and analysis of rare disease clinical trials. Beyond that, she is challenged by explaining complex
statistical issues to non-statisticians. She provides consultation for clinical and pre-clinical studies in various
medical disciplines. Moreover, she teaches medical students as well as students from other bio-scientific areas.
She will contribute to the project via WP19 in transferring biostatistical knowledge towards local clinical trial
teams and WP20 in providing trainings on biostatistical topics to empower RD clinical trial methodologies and
management.
Main tasks in the project:
Leader: Task19.1; SubTask20.4.2
Contributor: Task20.3; SubTask20.3.5; Task20.4; SubTask20.4.1; SubTask20.4.3; SubTask20.4.4;
SubTask20.4.5; SubTask20.4.6;
100 - ETAg
Name of the SIHTASUTUS EESTI TEADUSAGENTUUR
legal entity
Expertise, available infrastructure(s) Expertise, available infrastructure(s)
ETAG (Estonian Research Council) has participated ETAG (Estonian Research Council) has participated as
as Task Leader and supporter in many Horizon 2020 Task Leader and supporter in many Horizon 2020
ERA-NETs (e.g. SusCrop, BlueBio, CoBioTech etc.) ERA-NETs (e.g. SusCrop, BlueBio, CoBioTech etc.)
and Horizon Europe partnerships (e.g. Biodiversa+, and Horizon Europe partnerships (e.g. Biodiversa+,
Water4All, Sustainable Blue Economy etc.). Water4All, Sustainable Blue Economy etc.).
Additionally, ETAG has participated as a secretariat Additionally, ETAG has participated as a secretariat for
for ERA-NET CHANCE and Biodiversa and ERA-NET CHANCE and Biodiversa and provided the
provided the submission platform for different ERA- submission platform for different ERA-NETs and
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NETs and partnerships (e.g. Biodiversa and partnerships (e.g. Biodiversa and Biodiversa+,
Biodiversa+, CHANCE, Sustainable Blue Economy, CHANCE, Sustainable Blue Economy etc.).
etc.). ETAG is also one of the main funding ETAG is also one of the main funding organisations for
organisations for Estonia. Estonia.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
101 - SAS
Name of the legal entity SLOVENSKA AKADEMIA VIED
Expertise, available infrastructure(s)
SAS is a research funding agency. SAS has participated as a funding agency in previous international research
funding collaborations, including EJP RD. SAS has extensive experience with joint-funded calls and
management of research projects.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
102 - SONIO
Name of the legal entity SONIO
Expertise, available infrastructure(s)
At Sonio our expertise is multidisciplinary, both in AI, bioinformatic, genetic and clinical prenatal diagnosis
(maternal foetal medicine practitioners - MFM). Our role will be to provide to Orphanet the work we have done
of curation of rare disease phenotype for the antenatal onset. We will take this opportunity to improve further
this database with new curations taking advantage of the network of clinician experts we built over the last years
and rely on our bioinformatic expertise. In a second time our objective is to determine with Orphanet a second
list of syndrome which has not a prenatal phenotype sufficiently specific to diagnosed by MFM but that could be
diagnosed by combining antenatal phenotype and genotype. Here we aim to go further in the curation work
initiated during our EIC project.
Main tasks in the project:
Leader: Task16.2;
103 - MOSAE
Name of the legal entity SOTSIAALMINISTEERIUM
Expertise, available infrastructure(s)
MOSAE has participated as a funding agency in international research funding collaborations. The organization
will participate in the partnership as a funder in joint transnational calls.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
104 - SRC
Name of the legal entity VETENSKAPSRADET - SWEDISH RESEARCH COUNCIL
Expertise, available infrastructure(s)
The Swedish Research Council (SRC) is the largest governmental funding agency in Sweden. We operate under
the Ministry of Education and Research and fund research and research infrastructure in all scientific disciplines
with an annual budget of around 8 billion SEK.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
105 - TEDDY
Name of the legal entity TEDDY - EUROPEAN NETWORK OF EXCELLENCE FOR PAEDIATRIC
CLINICAL RESEARCH
Expertise, available infrastructure(s)
TEDDY is willing to participate to the project due to its consolidate expertise in the field of medicines and
innovative treatment for special population ed in particular of medicines for children affected by rare diseases.
TEDDY started as an EU FP6 funded project, ended with methodological, ethical and regulatory experts
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recommendation, and is currently a member of the coordinating group at the EnprEMA. TEDDY will contribute
to the following project activities: a)organise knowledge exchange meetings and peer education activities
addressing ethical, legal, and social aspects of paediatric research and children rights. b) Setting up, managing,
and implementing rare disease (RD) Paediatric Advocacy groups covering local, regional areas and
underrepresented EU countries. c) providing Ethical and Regulatory support including involvement of children
and young patients groups in trial design and studies conduct. d) supporting methodological expertise in
developing paediatric research protocols and RWD collection.
Main tasks in the project:
Leader: Subtask20.1.2
Contributor: Task2.3; Task18.2; Task20.1;
106 - TEKKARE
Name of the legal entity Real Consulting Data
Expertise, available infrastructure(s)
Tekkare has a strong expertise in user experience, software development and data engineering. This ability to
deliver efficient solution based on reliable data processing showcase with its nomination for prix Galien 2023 as
category best digital product for its rare disease medical device for HCP. Tekkare has also contributed to many
scientific studies in rare diseases as a technical support. Tekkare is bringing proven software and capabilities
that will help strongly accelerate the data effort for monitoring, analysis and development of a knowledge hub to
improve user experience and exploration of the data generated by the consortium.
Main tasks in the project:
Leader: Task1.3
Contributor: WP1.0;
107 - TIF
Name of the legal entity THALASSAEMIA INTERNATIONAL FEDERATION
Expertise, available infrastructure(s)
The Thalassaemia International Federation (TIF) is a Cyprus-based, WHO-awarded, patient-oriented, non-profit,
non-governmental federation with 134 members (national thalassaemia associations) in 68 countries globally
(incl. 26 in 16 EU MS). TIF focuses on the disease-specific education of patients and healthcare professionals,
the promotion of research on haemoglobinopathies, advocacy for health/social policy/service improvement,
awareness-raising and networking. With a renowned educational programme, well-established networks of
expert patients, researchers/healthcare professionals, and meaningful collaboration with the rare disease
community in Cyprus and globally, TIF may substantially contribute to attaining ERDERA’s objectives.
Main tasks in the project:
Contributor: WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2; SubTask23.2.1;
SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2; SubTask23.3.3;
108 - TUBITAK
Name of the legal entity TURKIYE BILIMSEL VE TEKNOLOJIK ARASTIRMA KURUMU
Expertise, available infrastructure(s)
TÜBİTAK is participating as a funding agency in 7 different HE partnerships. As for H 0 0, TÜBİTAK has
been a partner for 510 different ERA-NET Cofund projects and 1 COFUND-EJ project. Thus, TÜBİTAK has
significant expertise on how to manage external calls and their related actions.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Task24.3;
109 – RT (TuscReg)
Name of the legal entity REGIONE TOSCANA
Expertise, available infrastructure(s)
The Tuscan health system includes three Local Health Authorities, four university hospitals, ISPRO Institute
and Monasterio Foundation. The health system is the sector to which the region commits the largest share of its
budget and organizational structure, and constitutes an infrastructure of services and activities that can generate
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positive effects throughout the region Tuscany Region promotes health research and innovation policies to
structure an integrated and synergistic research and innovation system in a coordinated context among Tuscan
university hospitals and other institutions of the Regional Health Service.
The Rare Diseases Regional Network, recently implemented close to the ERN model, includes institutions,
clinicians, researcher and patients.
The Region is also actively involved in the promotion of the Tuscan Life Sciences Cluster for a dialogue among
companies and the network of excellence present in the field of research and technology transfer in the region.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Task3.3;
110 - UAB
Name of the legal entity UNIVERSITAT AUTONOMA DE BARCELONA
Expertise, available infrastructure(s)
CBATEG is a translation gene therapy research centre focusing on the development of AAV vector-based gene
therapy approaches for both rare and highly prevalent metabolic and neurodegenerative diseases. CBATEG has
been working in all aspects of gene therapy development for over 20 years, including the development and
preclinical validation of AAV-based ATMPs, and the rational design and generation of tailored and optimized
AAV-based expression cassettes and pre-clinical AAV manufacturing. We have also an extensive experience in
AAV vector characterization and assessment of quality attributes, using different state-of-the-art techniques that
meet the regulatory EMA and FDA requirements. CBATEG has AAV vector preclinical production laboratories
equipped to produce high quality AAV vectors and laboratories for process development for the manufacturing
of AAV, including bioreactor production and purification equipment. We will contribute to improve
manufacturing processes, develop analytical methods and assays to better characterize new medicinal products,
and address evaluation of therapy response as well as immunogenicity issues related to in vivo administration of
ATMPs.
Main tasks in the project:
Contributor: WP21.0; Task21.1; Task21.4; Task21.5;
111 –UCD
Name of the legal entity UNIVERSITY COLLEGE DUBLIN, NATIONAL UNIVERSITY OF IRELAND,
DUBLIN
Expertise, available infrastructure(s)
UCD team consists of experienced researchers from early careers to experienced health and social care
researchers, including nursing, health systems and global health and policy.
Our current role in the EURD project is to co-lead Task 20.4: European Diploma on RD research (M1-M84)
The UCD (Dr Somanadhan) will lead a module co-design, development and delivery as part of the European
Diploma on RD research.
Also, Co-lead ( Dr Somanadhan) for Subtask 20.4.1: Establish a cross-ERDERA expert consortium and set of
training modules (M1-M12)
Main tasks in the project:
Leader: SubTask20.4.1
Contributor: Task20.4; SubTask20.4.2; SubTask20.4.3; SubTask20.4.4; SubTask20.4.5; SubTask20.4.6;
112 - UCSC
Name of the legal entity UNIVERSITA CATTOLICA DEL SACRO CUORE
Expertise, available infrastructure(s)
UCSC comprises 4 campuses (Milano, Brescia, Piacenza-Cremona, Roma) and 12 faculties covering several
disciplines, from economics and humanities to biomedical sciences and STEM. The Faculty of Medicine and
Surgery, in the Rome Campus, collaborates with its teaching hospital, Fondazione Policlinico Universitario
Agostino Gemelli (10% of the entire productive capacity of Lazio Regional Health Service with almost 100’000
patients cared every year and involved in 16 ERNs, and housing an up-to-date research facilities at the Gemelli
Science and Technology Park https://gstep.policlinicogemelli.it/). It runs >100 academic curricula (master’s and
bachelor’s degrees, advanced courses, PhD programs, residency schools, etc), houses fully teaching facilities
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(fully equipped for videoconferencing, teaching labs, lab simulations software and immersive learning tools).
The School of Medicine is at present a world-class training ground for future leaders in medical research and
practice -including every modern medical discipline and some of the most respected medical scholars in the
world. UCSC will be mostly involved in setting up and running the academic curriculum on RD research within
the training activities, and will collaborate with expert mentoring in data processing from clinical research tasks.
Main tasks in the project:
Leader: Task20.4; SubTask20.4.4; SubTask20.4.5
Contributor: Task20.2; SubTask20.4.1; SubTask20.4.2; SubTask20.4.3; SubTask20.4.6;
113 - UEF
Name of the legal entity ITA-SUOMEN YLIOPISTO
Expertise, available infrastructure(s)
The University of Eastern Finland responds to global challenges through a high standard of interdisciplinary
research and education. In doing so, we build a responsible and sustainable future. Our strategic research is
focused on four profile areas: Ageing, lifestyles and health ; Environmental change and sustainable use of
natural resources ; Cultural encounters, mobilities and borders ; Diversifying learning and interaction.
Main tasks in the project:
Contributor: WP21.0; Task21.2; Task21.3;
114 - UKA
Name of the legal entity UNIVERSITAETSKLINIKUM AACHEN
Expertise, available infrastructure(s)
Prof. Dr rer. nat. Ralf-Dieter Hilgers is mathematician by training. His research interest is in optimal design of
experiments, randomizations process and clinical trials. He gives biostatistical advice to clinical and
experimental trials in all medical areas. He teaches students in different bio-scientific areas and is responsible
for the education of investigators in clinical trials. He also acts as reviewer for methodological and clinical
journals. He coordinates the FP-7 funded IDeAl project (GA N° 602552) (www.ideal.rwth-aachen.de), co‐leads
W 0 “Accelerating the validation, use and development of innovative methodologies tailored for clinical trials
in RDs“ within H 0 0 funded EJ -RD (GA N° 825575) and co-leads of WP4 Clinical Trial Support with
ERICA (GA N° 964908). He is reviewer for professional societies and member of the Off-Label Expert Group
and Commission C of the BfArM. He will contribute to WP20 with teaching in biostatistics and WP19 - Task
19.4.
Main tasks in the project:
Leader: Task19.4; SubTask20.4.1
Contributor: Task19.1; SubTask20.3.5; SubTask20.4.2; SubTask20.4.3; SubTask20.4.4; SubTask20.4.5;
SubTask20.4.6;
115 - UKLFR
Name of the legal entity UNIVERSITAETSKLINIKUM FREIBURG
Expertise, available infrastructure(s)
• rof Kirschner has extensive experience in clinical research for neuromuscular and other rare diseases. His
main focus is the development of innovative treatments (including ATMP) and the collection or real-world data.
• rof Cathomen leads the analyses of off-target effects of cells edited ex vivo and organs edited in vivo.
• Dr Mussolino contributes to the efforts of developing and applying novel Cas fusion proteins that promote
HDR and reduce mutagenic outcomes.
• Dr echmann is lead investigator of the SMArtCARE database to collect real-world data from patients with
spinal muscular atrophy.
• Dr Rodger curates the Care and Trial Site Registry, and contributes user-centred design expertise to technology
and service development.
Main tasks in the project:
Contributor: Task9.5; Task12.3; Task13.2; WP21.0; Task21.4;
116 – University of Campania L.
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Name of the legal entity UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI
Expertise, available infrastructure(s)
V. Nigro is the Coordinator of the Telethon Program on Undiagnosed Diseases and Director of the Medical
Genetics Service at Vanvitelli University. In the last 10 years, more than 10,000 Italian patients have been
studied at least by exome sequencing and a 1.2k paediatric cohort of undiagnosed cases have been fully
characterized both genomically and phenotypically in the Telethon program. The Nigro team at Vanvitelli now
consists of 46 people, including 18 permanent staff, including medical geneticists, bioinformaticians,
technicians, administrative staff, a cardiologist, and the facility is equipped with several sequencers, including
Illumina NovaSeq6000, Next 500, Oxford Nanopore Promethion 24 and Bionano. Recent focus is on the use of
beyond exome technologies, including methylome and transcriptome analysis. One of the in-house technology
enhancements is aimed at the detection of copy number elusive variants (CNVs), such as ACACIA, a custom
megabase array CGH that allows the assessment of the copy number of predicted haplo-insufficient genes at
single exon resolution. Vanvitelli is a founding member of the Network for Italian Genomes (NIG), UDNI, and
a beneficiary of SOLVE-RD.
Main tasks in the project:
Contributor: Task6.2; Task6.3;
117 – University of Crete
Name of the legal entity PANEPISTIMIO KRITIS
Expertise, available infrastructure(s)
The focus of Ioannis Zaganas research is on the genetic basis of rare neurogenetic disorders, including
myopathies, polyneuropathies, epilepsies, motor neuron disorders, ataxias etc. He is also interested in the
genetic underpinnings and the molecular mechanisms of neurodegeneration, especially in relation to
Alzheimer’s disease, Frontotemporal Dementias and other dementias. Through his laboratory
(Neurology/Neurogenetics Laboratory, University of Crete), more than 1,000 genetic tests have been performed,
including more than 600 whole exome sequencing analyses, most of them for rare neurogenetic disorders. Most
of these analyses have been contributed to the SOLVE-RD consortium and are currently under re-analysis. His
aim in the current proposal is to contribute genetic sample data of unsolved cases and assist in interpretation of
these and other datasets. Hopefully, following identification of causative variants in this project, he will
communicate these results to patients and/or attending physicians.
Main tasks in the project:
Contributor: Task6.2; Task6.3;
118 - UGENT
Name of the legal entity UNIVERSITEIT GENT
Expertise, available infrastructure(s)
UZ Gent is one of the seven Belgian University Hospitals that received recognition as a 'Rare Disease Function',
an access point to interdisciplinary diagnosis, treatment and follow-up for patients with an undiagnosed disease.
At the local level, UGent/UZ Gent has developed clinical and research-oriented rare disease initiatives such as
UD-PrOZA and RARE-MED. Internationally, UGent/UZ Gent belongs to 21 ERNs, UDNI and Solve-RD. In
the present proposal UGent/UZ Gent will contribute to the Genome Research Re-analysis Pipeline Work
package by (1) contributing thousands of omics datasets (exomes, genomes, transcriptomes) of unsolved disease
cases generated as part of the genetic diagnostic work-up on state-of-the-art genomics platforms (Illumina
Novaseq 6000) and (2) taking a leading role in the data interpretation task force for neurological
(neuromuscular/neurodegenerative) disorders including functional validation to prove pathogenicity of variants
for known and novel disease-genes.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task7.1; Task7.3;
119 - UKCL
Name of the legal entity UNIVERZITETNI KLINICNI CENTER LJUBLJANA
Expertise, available infrastructure(s)
The University Medical Centre Ljubljana is the largest hospital in Slovenia with around 10,000 employees and
treats more than 100,000 patients a year. It is also a teaching hospital associated with the Medical Faculty
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Ljubljana. Clinical Institute for Genomic Medicine is the only referent tertiary centre in the field of genomic
medicine in the Slovene health system and has more than 55 years of experience in the diagnosis and treatment
of rare diseases. We were in 2013 among the first European institutions which introduced NGS technology into
the national healthcare system. Our vision is to lead the forefront in translating innovative genomic
technologies into healthcare systems, thereby enhancing the diagnostic and management capabilities for rare
diseases.
Main tasks in the project:
Contributor: Task6.2; Task6.3;
120 - WDO
Name of the legal entity STICHTING UNITED PARENT PROJECTS MUSCULAR DYSTROPHY
Expertise, available infrastructure(s)
WDO (World Duchenne Organization) is a non-profit global organization, member of EURORDIS, RDI, EPF,
and an eligible member of the European Medicines Agency, empowering direct links to regulators and rare
diseases research. The organization’s goals are to promote research, drug development, and advocacy, with 50+
member patient organizations across Europe and the Globe. WDO will support the project with its extensive
knowledge of RD patient-centred research and patient training capacities.
Main tasks in the project:
Leader: Task4.1
Contributor: Task1.2; Task2.3; Task3.1; Task3.3; Task4.2; Task4.3; SubTask4.3.1; SubTask4.3.2; Task5.1;
Task5.3; Task10.3; Task12.1; Task14.1; Task14.3; Task20.1; Subtask20.1.1; Task20.3; Subtask20.3.6;
SubTask20.4.1; SubTask20.4.2; SubTask20.4.3; SubTask20.4.4; SubTask20.4.5; SubTask20.4.6;
121 - UU
Name of the legal entity UPPSALA UNIVERSITET
Expertise, available infrastructure(s)
UU is hosting the National Bioinformatics Infrastructure Sweden (NBIS) with ~120 staff, of which over 60 are
bioinformatics support experts that provide advanced bioinformatics expertise in various research projects.
NBIS also has ~15 systems developers to provide tools and tailored bioinformatics analytical pipelines.
Main tasks in the project:
Leader: Task15.3; Task19.4
Contributor: WP7.0; Task7.1; Task7.2; Task7.3; Task19.3;
122 – c4c-s
Name of the legal entity CONECT4CHILDREN STICHTING
Expertise, available infrastructure(s)
conect4children (c4c) is a large, effective, pan-European research infrastructure (21 countries, 250 sites, 400
experts) that supports the design and conduct of studies that develop and improve medicines used by babies,
children, and young people.
c4c has grown out of a successful IHI public private partnership that has co-developed with industry and
academia a number of services that facilitate the development of medicines for rare diseases in the paediatric
population: site and study setup (including trial feasibility); expert advice including the perspectives of
methodologists, clinicians, and people with lived experience of rare diseases; education and training about
paediatric aspects of rare diseases; paediatric specificities of data standards in clinical trials. Each of these
services uniquely meets a specific need for ERDERA.
All staff and infrastructure are in place to carry out the ERDERA's activities.
Main tasks in the project:
Leader: SubTask20.4.3; SubTask20.4.5;
Contributor: Task20.1; Subtask20.1.2; Task20.4; SubTask20.4.1; SubTask20.4.2; SubTask20.4.4;
SubTask20.4.6; Task25.3;
123 - Cadi Ayyad University
Name of the legal entity UNIVERSITE CADI AYYAD
Expertise, available infrastructure(s)
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Cadi Ayyad University has the first Moroccan reference laboratory for conforming diagnoses in patients with
rare diseases, we have conducted several studies in the most common rare diseases in Morocco, thanks to our
works, several patients are currently under treatment, and clinicians are more awake to symptoms evoking rare
diseases. Thanks to our expertise our laboratory and hospital receives all Moroccan patients with rare diseases
and we are thus the leader of the Moroccan consortium for rare diseases. We have national registers, national
biobanks relating to patients with rare diseases, which allows us to carry out different research studies
Main tasks in the project:
Leader: Task24.2
Contributor: Task25.1;
124 - CNRS
Name of the legal entity CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE CNRS
Expertise, available infrastructure(s)
IVETh industrial integrator (CNRS/Université Paris Cité/INSERM) is the first French technological hub
dedicated to extracellular vesicles (EV) and nano vectors bioproduction, engineering and characterization for
diagnosis and personalized nanomedicine. IVETh created different breakthrough technologies (10 patents, two
spin off EVERZOM, Evora Biosciences) for EV scalable production (by turbulence physical stimulation in
GMP bioreactors), loading with exogenous agents and local delivery. IVETh technologies include : Cell
engineering (CRISPR/Cas9), Microfluidic, High yield EV production, Isolation and Loading methods (fusion
with LNP), Analytical microfluidic fractionation (AF4 / MALS, DLS, RI, Fluo, UV-Vis), Quantification, sizing,
phenotyping (NTA, Exoview, NanoFCM), Raman spectroscopy, super-resolution nanoscopy, AFM, HCS
microscopy and organoids t. Characterization of EV quality are being correlated to their biological activity
(QSAR approach and AI approach for quality control).
Main tasks in the project:
Contributor: WP21.0; Task21.3;
125 - CIBER
Name of the legal entity CONSORCIO CENTRO DE INVESTIGACION BIOMEDICA EN RED M.P.
Expertise, available infrastructure(s)
CIBER is composed by 13 thematic areas. One of the is focused on Rare Diseases (CIBERER) is a network
structure (over 700 investigators organized in 76 research and clinical groups) for translational research into rare
diseases. CIBERER has the Undiagnosed Research Program, called ENoD and also coordinates the
Undiagnosed Diseases Network called IMPaCT-GENóMICA. CIBER has also the capacity to develop novel
viral and non-viral mediated gene editing and gene therapies of rare diseases affecting hematopoietic, epidermal,
inflammatory, and metabolic diseases using in vitro and in vivo approaches and to develop lipid nanoparticles
allowing the encapsulation and controlled release of mRNA. So, CIBER will participate in the Clinical Research
Network activities, focusing on diagnostic-related topics, as well as National Mirror Groups in collaboration
with ISCIII and also in the innovative therapies development.
Main tasks in the project:
Contributor: Task7.1; Task7.2; WP21.0; Task21.3; Task21.4;
126 - UEFISCIDI
Name of the legal entity UNITATEA EXECUTIVA PENTRU FINANTAREA INVATAMANTULUI
SUPERIOR A CERCETARII DEZVOLTARII SI INOVARII
Expertise, available infrastructure(s)
UEFISCDI is participating as a funding agency in 8 different HE partnerships. As for H2020, UEFISCDI has
been partner in 42 ERA-NET Cofund networks, having significant expertise on how to manage external calls
and their related actions.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
127 – UNIROMA1
Name of the legal entity UNIVERSITA DEGLI STUDI DI ROMA LA SAPIENZA
Expertise, available infrastructure(s)
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The Team has solid expertise in 1) structural bioinformatics and 2) teaching, training and curriculum design.
1) Research activities focus mainly on the functional interpretation of protein variants in several contexts
including rare diseases, antibiotic resistance, SARS-CoV-2, and human pathologies in general. Currently the
team is working on the prediction of RD mutations that can be treated with pharmacochaperons. This expertise
fits in the overall ERDERA, where the Team can contribute to the study and analysis of the effects of protein
variants identified by other ERDERA teams and provide structural basis and rationale for the design of new
therapies.
2) Team leaders have strong competences in teaching practices and learning processes. We support academic
institutions in the design of curricula, developed and annually deliver a post-graduation advanced course in
bioinformatics, and are expert adviser on teachers' training for our and other universities. We lead the ELIXIR
Europe Train the Trainer programme.
The Team has access to computational facilities within the context of ELIXIR-IT and Sapienza Università.
Moreover, the Team is equipped with workstation and servers running molecular graphics and modelling
software.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task20.4; SubTask20.4.1; SubTask20.4.2; SubTask20.4.3; SubTask20.4.4;
SubTask20.4.5; SubTask20.4.6;
128 – UANTWERPEN
Name of the legal entity UNIVERSITEIT ANTWERPEN
Expertise, available infrastructure(s)
Jonathan Baets is a neurologist and neuromuscular disease specialist; he coordinates an academic referral centre
for neuromuscular diseases and is academic and clinical chair of neurology at his institution. My focus is
primarily on molecular and clinical genetic studies of rare neuromuscular diseases further establishing the
genetic markup of these diseases, enlarging the genotype-phenotype spectrum, pinpointing key elements in the
pathophysiology of the disease and paving the way towards biomarker and therapeutic studies. We work in close
collaboration with the diagnostic division of the genetics department of the Antwerp University Hospital and
this allows research repurposing of large amounts of diagnostic WES datasets. In addition we extend our
expertise in novel long-read whole-genome sequencing technologies in international collaboration with the
University of Miami (Stephan Züchner).
Main tasks in the project:
Contributor: Task6.2; Task6.3
129 - BNSF
Name of the legal entity BULGARIAN NATIONAL SCIENCE FUND
Expertise, available infrastructure(s)
BNSF is a research funding agency. BNSF has extensive experience with joint-funded calls and management of
research projects.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
130 - Aalborg University Hospital
Name of the legal entity Aalborg University Hospital
Expertise, available infrastructure(s)
As a University hospital we receive samples for exome and genome sequencing from the entire Northern Region
of Denmark. We have all necessary equipment for genetic and functional studies. We will be able to contribute
as research performers, contribute to testing and validation of tests including new approaches or ideas. We have
profound experience with training and education of medical/clinical geneticists, clinical laboratory
geneticists/molecular biologists, and other subgroups of laboratory personnel. In research projects we are using
multiomics approaches including genomics, epigenomics, transcriptomics and metabolomics.
Main tasks in the project:
Contributor: Task6.2; Task6.3;
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131 - RDB
Name of the legal entity RARE DISEASES BULGARIA
Expertise, available infrastructure(s)
Rare Diseases Bulgaria is the first alliance of patient organizations in the country, and its founders are
organizations with many years of experience in advocacy and support for people living with rare diseases in
Bulgaria. The team consists of people - patient advocates - experts in health policies, social support and
inclusion, communications and financial operations. Our role will be to ensure that the "voice of the patient" and
especially an underrepresented country such as Bulgaria is represented in the ERDERA in the best possible way
in the interests of all partners and stakeholders. As a network of experienced organizations we have a wide range
of partners in and outside the country, we are as well representing the country on the Council of the National
Alliances in EURORDIS. We will work together with researchers, health and social care providers, politicians,
media and families living with rare diseases to contribute to every possible aspect, including facilitating our
experience and disseminating knowledge and information about the project.
Main tasks in the project:
Contributor: WP24.0; Task24.2;
132 – BBMRI-ERIC
Name of the legal entity BIOBANKS AND BIOMOLECULAR RESOURCES RESEARCH
INFRASTRUCTURE CONSORTIUM (BBMRI-ERIC)
Expertise, available infrastructure(s)
BBMRI-ERIC is a European research infrastructure for biobanks and biomolecular resources.
BBMRI-ERIC has significantly contributed to EJP RD development of Virtual Platform (VP), contributing to
the architecture development and subsequently focusing on integrating rare disease biobanking resources into
the findability and accessibility services of the VP. This namely entails Directory (resource-level discovery) and
Locator (record-level discovery). Negotiator service is now being integrated in the VP to allow access to the
discovered resources and negotiate between requesters and resource providers. BBMRI-ERIC is developer and
operator of these services and hence has the full capability and expertise to operate, maintain, support, and
further develop these services as a part of ERDERA. BBMRI-ERIC has also supported integration of the
LifeScience AAI into the VP and migration of services by other service providers in EJP RD outside of BBMRI.
LifeScience AAI is a joint effort of LifeScience research infrastructures, under leadership of ELIXIR, BBMRI-
ERIC and INSTUCT-ERIC.
Main tasks in the project:
Contributor: Task13.2;
133 - Aarhus University Hospital
Name of the legal entity AARHUS UNIVERSITETSHOSPITAL
Expertise, available infrastructure(s)
Aarhus University Hospital has great expertise in clinical evaluation of patients with rare genetic conditions, the
genetic analysis (WGS) in Pernille Axél Gregersen lab (core facility) and genetic variant interpretation. Pernille
Axél Gregersen lab has competences within all steps of the genetic diagnostics of this patient group.
Main tasks in the project:
Contributor: Task6.2; Task6.3;
134 – IABS
Name of the legal entity ASSOCIATION INTERNATIONALE DE STANDARDISATION BIOLOGIQUE
POUR L'EUROPE(IABS-EU)
Expertise, available infrastructure(s)
The International Alliance for Biological Standardization (IABS) is an independent, non-profit scientific
alliance, founded in 1955 with members in over 50 countries.
IABS's mission:
• To host conferences and workshops, facilitate communication, and develop consensus on key
contemporary issues related to biologicals among those who discover, develop, produce and regulate
biological products for human and animal health
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• To foster evidence-based Science as the standard for improving and ensuring the quality and the safety
of biological products
• To share scientific advancements and innovative regulatory solutions through our journal “Biologicals”.
The cell and gene therapy committee members include current and former regulators and representatives from
USP, EDQM, NIBSC, NIHS.
Main tasks in the project:
Leader: Task 18.1;
135 - HRCI
Name of the legal entity Health Research Charities Ireland Company Limited by Guarantee
Expertise, available infrastructure(s)
HRCI will be a contributor on Task 1.2.2: PPIE. HRCI brings a strong track record and expertise in including
patients as partners in research and a particular knowledge of rare disease research, through many years of
involvement.
We will support many of the activities of Task 1.2.2. Our role will be to contribute expertise and practical
guidance on PPIE practices. We will share our guidelines and templates, as well as our knowledge of other
existing resources. We will help to shape a PPIE framework for the ERDERA, support the development of
surveys and also provide a link to the Irish rare disease patient community.
We have the capacity and infrastructure to actively contribute to the ERDERA. Ireland is a leader internationally
in PPIE and we are a leader in Ireland. We are an established national umbrella organisation for over 40
charities, with very strong governance, and a staff team with expertise in PPIE, patient organisations, rare
disease research, communications and patient advocacy.
Main tasks in the project:
Contributor: Task1.2;
136 - LMU
Name of the legal entity LUDWIG-MAXIMILIANS-UNIVERSITAET MUENCHEN
Expertise, available infrastructure(s)
Prof. Klopstock is the Leader of Task 9.4 Development of a blueprint and inventory of regulatory-grade natural
history cohort data, as well as a Contributor in Task 9.1 Use of primary healthcare data (EHRs) for RD outcome
research and Task 10.1 Platform for regulatory-grade patient-centred COA development and validation. As
Coordinator of mitoNET and TIRCON and Principal Investigator of the global registry for mitochondrial
disorders, he has strong expertise in setting up and analysing large registries and natural history studies. In Task
9.4, together with other contributors, we will address an important next step for academic registries and natural
history studies, i.e. to establish the procedures to achieve EMA qualification for regulatory-grade natural history
that may serve as an external comparator arm in non-randomized clinical trials as well as for post-authorisation
safety surveillance (PASS) and efficacy (PAES) studies.
Main tasks in the project:
Leader: Task9.4
Contributor: Task9.1; Task10.1; Task14.1;
KUM :
Contributor: Task9.1; Task10.1; Task14.1;
137 - MSW
Name of the legal entity MyScienceWork SAS
Expertise, available infrastructure(s)
MyScienceWork (MSW) is a technology company that provides a suite of data solutions for universities,
research institutions, scientific publishers and private-sector R&D companies. In 2018, MSW released an open
source solution for research data management named Polaris OS (available on GitHub) that has been developed
with modern, open-source technologies (Elasticsearch, Node.js, Vue.js, etc.) to guarantee the project’s
sustainability and openness.
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For the project, MSW will implement Polaris OS as a grant management platform for calls for projects and
monitoring of funded projects. The platform will be customised (forms, workflows, interfaces, analytics...) to
stick to the specifics of the project.
Main tasks in the project:
Contributor: Task1.3;
138 - FNR
Name of the legal entity FONDS NATIONAL DE LA RECHERCHE
Expertise, available infrastructure(s) and role in the project
The FNR has participated as a funding agency in a wide variety of international research funding collaborations,
including ERA-NET programmes from H2020 and before. We have extensive experience with joint-funded calls
and management of research projects.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
139 - NKFIH
Name of the legal entity NEMZETI KUTATASI FEJLESZTESI ES INNOVACIOS HIVATAL
Expertise, available infrastructure(s) and role in the project
The National Research, Development and Innovation Office (NKFIH) of Hungary is a governmental funding
organization that supports R&D&I projects at universities, research institutions and SMEs within Hungary. As a
research funder, the NKFIH participation in ERDERA will be aimed at participating in joint transnational (co-
funded) calls for research.
Main tasks in the project:
Contributor: WP3.0; Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4;
SubTask3.2.5;
140 - PEI
Name of the legal entity BUNDESINSTITUT FUR IMPFSTOFFE UND BIOMEDIZINISCHE
ARZNEIMITTEL
Expertise, available infrastructure(s) and role in the project
PEI is an internationally recognized medicines agency, responsible for the regulation of biomedicinal products
including gene therapy and for conducting research in related areas. Prof. Ivics is heading the Research Center at
the Division of Haematology, Gene and Cell Therapy, and is a leading expert in transposon-mediated non-viral
gene delivery and gene therapy. He published >160 articles and has 12 patents, several of them licensed to
biotech companies. Prof. Buchholz, who is heading the Molecular Biotechnology and Gene Therapy Section at
PEI, is a renowned expert on any aspects of gene transfer vectors. In particular, he invented receptor-targeted
lentiviral vectors. He has published more than 100 research articles and filed several patents on this technology,
which has been taken up by biotech industry. Currently, he is extending this approach to AAVs and RNA-LNPs.
Main tasks in the project:
Contributor: WP21.0; Task21.1; Task21.2; Task21.3;
141 - PLUS
Name of the legal entity PARIS-LODRON-UNIVERSITAT SALZBURG
Expertise, available infrastructure(s)
Nicole Meisner-Kober has extensive expertise in preclinical discovery and development of RNA based drugs as
well as drug delivery using extracellular vesicles, LNPs and hybrid nanovesicles. Her team at the PLUS has
access to critical infrastructure for cellular and in vivo studies to advance novel types of mRNA nanoparticles,
including quantitative studies of trafficking and in vivo biodistribution down to the single vesicle - single cell
level. Her team will contribute to the following aims:
• Mechanistic understanding of current LNPs/EVs/nanoparticles in terms of extracellular interactions and
intracellular processing to enable rational design of novel mRNA/nanoparticles formulations, including
sustained release
• Development of tools based on AI to implement formulation design efficiency
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• Transferable protocols for in vitro and in vivo evaluation of efficacy, pharmacokinetics, immunogenicity
and safety
• Demonstration of scalability of optimized mRNA formulations made with LNPs/EVs/nanoparticles
• Compare and characterize PK and biodistribution from various routes of administration (i.v, i.m, i.p).
Definition of regulatory quality control parameters of mRNA formulations in compliance with regulatory
expectations and regulatory advice (de-risking approach to maximize the production of relevant mRNA s for
clinical use)
Main tasks in the project:
Contributor: WP21.0; Task21.3;
142 - SORBONNE UNIVERSITE
Name of the legal entity SORBONNE UNIVERSITE
Expertise, available infrastructure(s)
Thanks to its 135 research units, Sorbonne University brings together a scientific community of 6,400 teacher-
researchers and researchers. This collective is involved in various scientific disciplines, relying on a strong
intellectual tradition allowing them to address the most fundamental questions. Mobilizing disciplines ranging
from the humanities to medicine through technological sciences (computer science, robotics, etc.), formal
(mathematics) or natural sciences (physics, chemistry, biology, geology, etc.), Sorbonne University is a
privileged crucible for tackling transversal and interdisciplinary manner the questions raised by our environment
and society.
Main tasks in the project:
Leader: Task25.1
Contributor: Task20.4; SubTask20.4.1; SubTask20.4.2; SubTask20.4.3; SubTask20.4.4; SubTask20.4.5;
SubTask20.4.6;
143 - UNISI
Name of the legal entity UNIVERSITA DEGLI STUDI DI SIENA
Expertise, available infrastructure(s)
The University of Siena, in Tuscany, is one of the oldest public universities founded in Italy and one of the
oldest in the world. First called Studium Senese, it was established in 1240 with the faculties of medicine and
law. With nearly 20,000 students1, it brings together almost half of the city's total population, which represents
54,000 people. Today, the University of Siena is mainly known for its faculties of literature and philology, law
and medicine.
Main tasks in the project:
Contributor: Task6.2; Task6.3;
144 - VINNOVA
Name of the legal entity VERKET FOR INNOVATIONSSYSTEM
Expertise, available infrastructure(s)
Vinnova – is Sweden’s innovation agency. Vinnova will participate in cofunding activities as well as to create
synergies with other partnerships and instruments to accelerate further development and innovation. Vinnovas
mission is to promote sustainable growth by improving the conditions for innovations, as well as funding needs-
driven research. Vinnova also supports the private sector focusing on SMEs as well as demonstrations/pilots and
mission driven approaches. Every year Vinnova invests about SEK 3 billion in various initiatives. Since co-
financing from actors must total at least the same amount, the funds for addressing societal challenges are
doubled. In addition, Vinnova is the Swedish Government's expert authority in innovation policy.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
145 – CRG-CERCA
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Name of the legal entity FUNDACIO CENTRE DE REGULACIO GENOMICA
Expertise, available infrastructure(s)
CRG will provision research and technology infrastructure and perform research. CRG was part of EJP RD,
consortium built to create a comprehensive, sustainable ecosystem allowing a virtuous circle between research,
care, and medical innovation. In the project “Gene Environment interactions in Mental health trajectories of
Youth (Youth-GEMs)” (Funded by Horizon Europe programme.) aiming to characterize how the interplay
between genetic, cognitive, social, and environmental factors is impacting mental health, CRG, as WP lead, is
handling data management, discovery, and access aspects of the project. CRG is also part of ELIXIR-
CONVERGE (H2020), EASI-Genomics (H2020) and EOSC4Cancer (HEurope)
The European Genome-phenome Archive (EGA) is a global network for permanent archiving and sharing of
personally identifiable genetic, phenotypic, and clinical data generated for the purposes of biomedical research
projects. EGA enables proper Data Management of sensitive data.
Main tasks in the project:
Contributor: WP6.0; Task14.2;
146 – GMS-Skane Region
Name of the legal entity Section of Clinical Genetics, Dept of Clinical Genetics, Pathology and Molecular
Diagnostics, Region Skåne, Sweden
Expertise, available infrastructure(s)
Clinical Genetics Lund is a provider of relatively large volumes of clinical WGS data, and that we are
mainstreaming the procedure to allow for research consent for the majority of patients. We are eager to
participate in data sharing to increase clinical yield, but we see some regulatory hurdles in Sweden. With our
commitment to the national project GMS and specifically NGP, we see a possibility to participate both in
building and testing a format for European collaboration through federated data access, but also to provide
clinical data for the entire project.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task7.3;
147 - VIB
Name of the legal entity VLAAMS INSTITUUT BIOTECHNOLOGIE FLANDERS INSTITUTE FOR
BIOTECHNOLOGY
Expertise, available infrastructure(s)
Sarah Weckhuysen is a neurologist at the University Hospital of Antwerp, an Associate Professor at the
University of Antwerp in Belgium, and leader of the Weckhuysen team at the VIB-Center for Molecular
Neurology in Antwerp. The primary focus of her research group is the identification of novel genes and genetic
mechanisms implicated in monogenic epilepsy. Her team has contributed to the discovery of > 20 novel disease
genes, placing our group at the international forefront of epilepsy genetics research. They work closely together
with the diagnostic Center for Medical Genetics of the University Hospital, where diagnostic exome sequencing
is performed. Their group has access to the diagnostic exomes allowing re-analysis in a research setting. Their
research centre is a leader in data generation and analyses on the Oxford Nanopore sequencing platform (ONT),
has developed several open access software packages and established the Long Read Sequencing Expert Unit
(2023)
Main tasks in the project:
Contributor: Task6.2; Task6.3;
148 – IPG
Name of the legal entity INSTITUT DE PATHOLOGIE ET DE GENETIQUE
Expertise, available infrastructure(s)
IPG is a non-profit foundation for diagnosis, education & research. IPG has unique experience & expertise in
pathology, clinical genetics, molecular & cell biology medical diagnosis. The Centre of Human Genetics
provides full services in the diagnosis, treatment & management of hereditary disorders & birth defects affecting
foetuses, newborns, children, adolescents & adults. A wide variety of clinical services is proposed including a
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general genetics clinic, metabolic clinic, renal genetic clinics, autism/medical genetics clinic & intellectual
disability evaluations. IPG is well-equipped with core facilities including a biobank cell & molecular imaging, a
molecular genetics laboratory (equipped w.1 MiniSeq,1MiSeq, NextSeq 00,1 NovaSeq6000 ) & a
bioinformatic unit with experience in analysing high throughput sequencing data.
Main tasks in the project:
Contributor: Task6.2; Task6.3;
149-UO
Name of the legal entity UNIVERSITY OF OTAGO
Expertise, available infrastructure(s)
Associate Professor Louise Bicknell is a molecular geneticist and has a significant track record in identifying
and characterising genetic causes of rare disorders, particularly focused on Meier-Gorlin syndrome and
neurodevelopmental disorders. Her research uses genomics and molecular biology tools to generate evidence in
support of variant pathogenicity for both novel and established genes. She is Co-Director of Genetics Otago, a
virtual research centre supporting > 400 genetics researchers from University of Otago, and is a member of the
Human Genetics Society of Australia-New Zealand Branch Executive Committee. She will lead the New
Zealand National Mirror Group, and represent New Zealand in this consortium.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2;
SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2;
SubTask23.3.3;
150 – HSJD
Name of the legal entity HOSPITAL SANT JOAN DE DEU
Expertise, available infrastructure(s)
Hospital Sant Joan de Déu in Barcelona is a leading healthcare facility known for its specialization in
paediatrics, obstetrics, and gynaecology. It is affiliated with the University of Barcelona and stands as
one of Europe's premier medical institutions dedicated to children's health. The hospital is renowned
for its comprehensive range of medical services, innovative research programs, and commitment to
compassionate care. Additionally, it serves as a vital centre for maternal and child health, offering
advanced treatments and support for families. Since 01/09/2023, this organization is coordinating the
European Reference Network EpiCare (https://epi-care.eu/) for rare and complex epilepsies. It is co-
leading the task 25.4 dedicated to ensuring alignment of ERDERA with the Research strategies of the
European Reference Networks.
Main tasks in the project:
Leader: Task 25.4
Contributor: Task25.1;
Associated Partner 151 - AZ
Name of the legal entity ASTRAZENECA AB
Expertise, available infrastructure(s)
Cas9 off-target analysis in vivo
AZ work on CRISPR/Cas9 gene editing technology aimed to investigate the potential off-target effects and the
determinants of indels (insertions and deletions). Published studies found that off-target effects were rare but
could occur, and suggested that using more precise guide RNAs and optimizing delivery methods could reduce
their frequency.
Cas9 indels profiling
A published study analysed a large dataset of CRISPR/Cas9 editing events and found that the frequency and size
of indels were influenced by the target sequence, guide RNA, and cell type being edited. The study concluded
that predicting and controlling the frequency and size of indels could improve the accuracy and safety of
CRISPR/Cas9 gene editing.
Development of Prime Editing Nucleases
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A published study introduces two strategies for precise genomic insertions using SpCas9 nuclease-based prime
editor. First method combines PEn with pegRNAs for homology-dependent DSB repair, and inhibits unintended
edits by DNA-PK inhibition. Second method utilizes springRNAs for NHEJ-mediated integrations. PEn editing
is effective for small genomic insertions/deletions and SNV repair and expands spectrum of DNA repair
mechanisms for prime editing.
Genome Engineering
Fully equipped tissue culture and molecular biology labs. The labs are fully equipped with gel electrophoresis
systems, microcentrifuges, PCR machines, and other routinely used molecular biology and tissue culture
equipment.
NGS & Transcriptomics
The NGS and Transcriptomics group is fully equipped for support of Next Generation Sequencing with access
to MiSeq, NextSeq, Fluidigm, OXford Nanopore, QPCR, ddPCR and automation assistance to support
molecular biology work.
Bioanalysis
The Bioanalytical team is fully equipped to support the discovery of biological entities and their development
into novel therapeutics using bespoke qualitative and quantitative assays.
Main tasks in the project:
Leader: Task18.2
Contributor: Task 18.1; WP21.0; Task21.2; Task21.3; Task21.4; Task21.5;
Associated Partner 152 – CHEO-RI
Name of the CHILDREN'S HOSPITAL OF EASTERN ONTARIO RESEARCH INSTITUTE INC
legal entity
Expertise, available infrastructure(s) Expertise, available infrastructure(s)
The Boycott Lab aims to understand the molecular The Boycott Lab aims to understand the molecular
pathogenesis of the most-difficult-to-solve rare pathogenesis of the most-difficult-to-solve rare
diseases. She leads the Care4Rare Canada Consortium, diseases. She leads the Care4Rare Canada Consortium,
worked with the Ontario Ministry of Health to worked with the Ontario Ministry of Health to
integrate genomics as a publicly funded test for rare integrate genomics as a publicly funded test for rare
disease diagnosis, and is co-PI of the Rare Diseases: disease diagnosis, and is co-PI of the Rare Diseases:
Models & Mechanisms Network. The Lochmüller Lab Models & Mechanisms Network. The Lochmüller Lab
studies neuromuscular disorders (esp. congenital studies neuromuscular disorders (esp. congenital
myasthenic syndrome, myotonic dystrophy) from myasthenic syndrome, myotonic dystrophy) from
basic (pathways, biomarkers, drug screening) to basic (pathways, biomarkers, drug screening) to
clinical (natural history, clinical trials). He leads clinical (natural history, clinical trials). He leads
NMD4C (neuromuscular disease network for Canada) NMD4C (neuromuscular disease network for Canada)
and coordinated international networks (IRDiRC and coordinated international networks (IRDiRC
Interdisciplinary Scientific Committee), consortia Interdisciplinary Scientific Committee), consortia
(RD-Connect) and biobanks (EuroBioBank). lHL will (RD-Connect) and biobanks (EuroBioBank).
advance his treatabolome work and contribute HL will advance his treatabolome work and contribute
genomic data for reanalysis and discovery genomic data for reanalysis and discovery
(16.3,6.3,8.2); KB will contribute to matchmaking (16.3,6.3,8.2); KB will contribute to matchmaking
(15.3); and both will network with ERDERA (25.3) (15.3); and both will network with ERDERA (25.3)
and share expertise in data sharing and reanalysis and share expertise in data sharing and reanalysis
(6.2,6.3,7.1,7.3). (6.2,6.3,7.1,7.3).
Main tasks in the project:
Contributor: Task6.2; Task6.3; WP7.0; Task7.1; Task7.3; Task7.4; Task8.2; Task25.3;
Associated Partner 153 - CIHR
Name of the legal entity CANADIAN INSTITUTES OF HEALTH RESEARCH
Expertise, available infrastructure(s)
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As the main federally funded health-research funding agency in Canada, and given our track record of
collaboration with European partners in various work programs, CIHR possess all the expertise required to
ensure a successful Canadian participation to the ERDERA. Our main role will be to contribute to all the aspects
of the JTCs. In addition, we will ensure alignment of the Clinical Research Network with the Paediatric Rare
DIsease Clinical and Treatment Network that is currently being established in Canada through CIHR's funding.
Additionally, CIHR will be contributing to the alignment of the ERDERA activities with other like-minded
International activities. As part of Government of Canada structure, CIHR have the required financial and
human resources to fully contribute to the ERDERA activities as a partner not receiving funding from the EC.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Task25.1;
Associated Partner 154 - DFG
Name of the legal entity DEUTSCHE FORSCHUNGSGEMEINSCHAFT EV
Expertise, available infrastructure(s)
DFG is a research funding agency. DFG has participated as a funding agency in previous international research
funding collaborations, including EJP RD. DFG has extensive experience with joint-funded calls and
management of research projects.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Associated Partner 155 – FDB
Name of the legal entity FUJIFILM DIOSYNTH BIOTECHNOLOGIES UK LIMITED
Expertise, available infrastructure(s)
Fujifilm Diosynth is a contract development and manufacturing organisation (CDMO) operating from multiple
sites across the World. We support numerous groups developing biologics and ATMPs across all clinical and
commercial scales. We will bring this real world experience in supporting the translation of ideas into viable,
manufacturable products to the project providing feedback on impact and likely adoption of proposed
approaches. We may test or demonstrate emerging technologies in an industry setting and may wish to license
emerging technologies which we believe will improve the translation, manufacture or understanding of ATMPs.
Main tasks in the project:
Contributor: Task 18.1; WP21.0; Task21.1; Task21.2; Task21.3; Task21.4;
Associated Partner 156 - FRQS
Name of the legal entity FONDS DE RECHERCHE DU QUEBEC - SANTE
Expertise, available infrastructure(s)
The FRQS is the main provincial funding agency in human health research in Québec and reports to the Minister
of Economy, Innovation and Energy. Its mission is to support health research to foster the wellness of Québec’s
population. Its mandate is to promote and financially support such research, to disseminate knowledge and train
students and researchers, to forge the partnerships necessary for the development of Quebec’s research and
innovation system, and, lastly, to advance research internationally. FRQS allocates around $110 million
annually in awards and grants in all areas of research in the field of health, including sustainable health -
research carry out in universities and public health social and services sector (clinical/hospital). FRQS also aims
to foster the development of collaborative research in Canada and internationally. Over the past years, FRQS
participated in many ERA-Net calls as well as other joint translational calls with European countries since 2010.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
Associated Partner 157 - HIPRA
Name of the legal entity HIPRA HUMAN HEALTH SL
Expertise, available infrastructure(s)
Hipra has a wide experience in developing vaccines for animal health and also recently for human health. Hipra
has a portfolio of vaccines for different animal species and a vaccine registered for humans Bimervax to prevent
Covid-19. Hipra is able to work with different platform technologies: live and inactivated virus and bacteria,
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vectorized, recombinant proteins, VLPs. In Hipra we work from the very beginning of the research and
development, the scale up, the production in our GMP manufacturing facilities, and we also work on the
regulatory process for the product registration both in EU and abroad. Hipra is currently working on the mRNA
technology so Hipra’s role in this project could be to provide either research and development or regulatory
advice in the different areas in which this is performed. Hipra also have top GMP qualified manufacturing
facilities that could be available for the consortium in case it is needed to produce clinical or industrial batches.
Main tasks in the project:
Contributor: Task 18.1; WP21.0; Task21.2; Task21.3; Task21.4;
Associated Partner 158 – LAB HIPRA
Name of the legal entity LABORATORIOS HIPRA SA
Expertise, available infrastructure(s)
Manufacturing facilities
"HV5: DS production with 50, 200 and 500L single-use bioreactors for cell lines (CHO, HEK293, CAP, insect
cells, VERO). Downstream process equipment.
CB4: site with bioreactors of 100 to 2000L to grow E.coli and yeast. Downstream process equipment.
VH1+VH2: blending (DP), and filling."
State-of-the art facilities
Manufacturing facilities equipped with the latest technologies in the biotech and processes complying with
European Union GMPs regulations for the manufacturing of biological and pharmacological products.
Dedicated lines and units for the production of veterinary and human vaccines.
Main tasks in the project:
Contributor: Task 18.1; WP21.0; Task21.2; Task21.3; Task21.4;
Associated Partner 159 - MICYRN
Name of the legal entity Maternal Infant Child and Youth Research Network
Expertise, available infrastructure(s)
In response to a RFA recently launched by CIHR for a RD Clinical Trials and Treatment Network, MICYRN is
leading a grant application to be submitted in October 2023. Should the proposal be funded in 2024, the
proposed network will be comprised of clinical trial experts, patient and family partners, rare disease specialists
including precision medicine and genomics, disease specific organizations, regulatory and health technology
assessment bodies, industry partners, and institutional and operational leads from across the country. The overall
coordination and facilitation of the Network will be led by MICYRN, a national organization joining 21
maternal-child health research organizations, and more than 25 affiliated practice-based research networks of
investigators. MICYRN will contribute to the development of a multi-national infrastructure to support global
RD paediatric trials and the sharing of knowledge. MICYRN was recently recognized at the Canadian National
Mirror Group for Rare Diseases in the European Joint Programme for Rare Disorders.
Main tasks in the project:
Contributor: WP23.0; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3; Task23.2; SubTask23.2.1;
SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3; SubTask23.3.1; SubTask23.3.2; SubTask23.3.3;
Associated Partner 160 - MILTENYI
Name of the legal entity MILTENYI BIOTEC BV & CO KG
Expertise, available infrastructure(s)
Miltenyi Biotec is one of the world’s leading providers of products and services for biomedical research and cell
and gene therapy. Miltenyi has more than 4,500 employees in 28 countries worldwide and its products been
used in more than 80,000 cell therapy procedures. In recent years, Miltenyi has established a broad product
portfolio in this area and also was involved with numerous translational medicine projects and trials around the
world. With its proprietary, fully automated, GMP-conform CliniMACS Prodigy platform, Miltenyi can perform
various specialized procedures including the HSCE process (Hematopoietic Stem Cell Engineering). Similarly,
Miltenyi has outstanding products for immunohistochemistry and immunofluorescence (MACSima Imaging
System) and flow cytometry (MACSQuant).
Main tasks in the project:
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Leader: Task 18.1; Task21.4
Contributor: WP21.0; Task21.1; Task21.2; Task21.3; Task21.5;
Associated Partner 161 - PFIZER
Name of the legal entity PFIZER INC
Expertise, available infrastructure(s)
At Pfizer, we apply science and our global resources to bring therapies to people that extend and significantly
improve their lives. Pfizer strive to set the standard for quality, safety and value in the discovery, development
and manufacture of health care products, including innovative medicines and vaccines. Pfizer aims to bring
experts from the following groups to the project: Rare Disease Medical, Emerging Science & Innovation
Research, R&D Drug Safety, Regulatory, Digital, and Government Affairs to provide their experience in drug
discovery and clinical development, cell-based assays, preclinical in vivo experimentation, next-generation
sequencing, high-resolution microscopy, regulatory, medical, policy, biobanking, computational and digital
sciences and analytic tool implementation and deployment. Pfizer will be the lead industry partner in the
Regulatory WP (18) and Technology Accelerator (WP21) and contributing to ATMPs CRN (WP11), RD-VP
(WP13), Policy (WP1).
Main tasks in the project:
Leader: WP18.0; WP21.0; Task21.2; Task21.3; Task21.5
Contributor: Task11.2; Task13.1; Task 18.1; Task21.4;
Associated Partner 162 – RCC (Rare Care Center)
Name of the legal entity DEPARTMENT OF HEALTH GOVERNMENT OF WESTERN AUSTRALIA
Expertise, available infrastructure(s)
The Rare Care Centre (RCC) combines excellence in rare diseases diagnosis, treatment, cross-sector care
coordination, digital health, computational phenotyping, trials, mental health, social services, education and
workforce capacity, policy and legislation, and patient engagement and support. Combined with access to local
and internationally connected research and innovation infrastructures and capacity, it is poised for significant
impact on all WPs. Prof Baynam's roles have/ do include Medical Director, RCC, Chair, Diagnostics
Committee, IRDiRC; Chair, Interdisciplinary Committee, IRDiRC; Co-Founder, UDNI; Founder, UDP WA,
Director, Lyfe Languages; Founder, Cliniface; Co-Chair, Standards of Practice, Global Commission for Rare
Diseases (RD); Member, Orphanet Australia National Advisory Board. Prof Groza is a world leader in
computational phenotyping for RD and Co-chair RD, GA4GH. Prof Lassmann has led RD empowering
algorithm development and multiomics in 3 continents.
Main tasks in the project:
Contributor: Task9.3; Task12.1; Task25.1; Task25.3;
Associated Partner 163 - REI
Name of the legal entity REITHERA SRL
Expertise, available infrastructure(s)
ReiThera Srl is a CDMO company based in Rome (Italy) dedicated to technology/process development and
GMP manufacturing of viral vectors for advanced therapies. The GMP facility, equipped with 50-2000L stirred-
tank and fixed-bed bioreactors, also comprises a filling suite and quality control laboratories. The Process
Development (PD) laboratory has extensive experience on upstream and downstream Adeno-Associated Virus
(AAV) vectors production processes based on state-of-the-art technologies, aimed at increasing process yield
with improved potency and purity of the vector lots.
As such, ReiThera is highly suited to be part of the network of ERDERA innovative industry partners that will
cooperate to the advance of cost-effective and harmonized AAV gene therapy for rare genetic diseases across
Europe, through the development and standardization of a base manufacturing process in suspension cells, and
the characterization of AAV vectors by more accurate, fit-for-purpose analytical methods.
Main tasks in the project:
Contributor: WP21.0; Task21.1;
Associated Partner 164 - RJF
Name of the legal entity LABORATORIO REIG JOFRE SA
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Expertise, available infrastructure(s)
RJF is pharmaceutical company with extensive experience in product development and manufacturing of
injectable products.
RJF has an innovation team that leads open innovation and collaborations in the development of complex
injectables and lyophilizates which has a strong experience in formulation stabilization of complex products, as
well as analytical development of biological products. Also with support the quality and regulatory team for the
medicinal requirements an engineering teams specialized in sterile process and biotechnological products
production eRJF has a strong experience in galenic, analytical development, innovative formulations as well as
in regulatory process in order to develop products from conception to clinical and commercial phases.
We can contribute to the process and product characterization, quality requirements to prepare batches for
clinical use and in the communication to support the project needs and maximize dissemination and access to
results.
Main tasks in the project:
Contributor: Task 18.1; WP21.0; Task21.2; Task21.3; Task24.3;
Associated Partner 165 – ROCHE
Name of the legal entity F. HOFFMANN-LA ROCHE AG
Expertise, available infrastructure(s)
Roche and Spark, together, are industry leaders in the development and commercialization of pharmaceutical
products, including ATMPs. In 2017, Spark launched Luxturna (voretigene neparvovec-rzyl) an AAV vectored
gene therapy for Leber congenital amaurosis. Roche has extensive experience of developing and
commercializing products for rare diseases including: Hemlibra (emicizumab) for Haemophilia A; Evrysdi
(risdiplam) for Spinal Muscular Atrophy and Enspryng (satralizumab) for Neuromyelitis Optica Spectrum
Disorder (NMOSD). With end-to-end capabilities, from early discovery to global commercialization,
Roche/Spark is able to tap into extensive technical resources and industry knowledge in support of this project.
Roche/Sparks expertise in fundamental science, drug development and global regulatory approval positions us
to provide critical support and leadership to our designated work packages.
Main tasks in the project:
Contributor: Task13.1; Task 18.1; WP21.0; Task21.1; Task21.5;
Associated Partner 166 - SNSF
Name of the SCHWEIZERISCHER NATIONALFONDS ZUR FORDERUNG DER
legal entity WISSENSCHAFTLICHEN FORSCHUNG
Expertise, available infrastructure(s) Expertise, available infrastructure(s)
Based on a government mandate, the Swiss National Based on a government mandate, the Swiss National
Science Foundation (SNSF) supports scientific Science Foundation (SNSF) supports scientific research
research in all academic disciplines – from physics to in all academic disciplines – from physics to medicine
medicine to sociology. At the end of 2022, the SNSF to sociology. At the end of 2022, the SNSF was funding
was funding 5500 projects involving more than 5500 projects involving more than 20,000 researchers.
20,000 researchers. This makes us the leading Swiss This makes us the leading Swiss organisation for the
organisation for the promotion of scientific research. promotion of scientific research.
To ensure its independence, the SNSF was To ensure its independence, the SNSF was established
established in 1952 as a private foundation. Its core in 1952 as a private foundation. Its core task is the
task is the evaluation of research proposals. By evaluation of research proposals. By awarding public
awarding public research money based on the research money based on the principle of competition,
principle of competition, the SNSF contributes to the the SNSF contributes to the high quality of research in
high quality of research in Switzerland. In close Switzerland.
collaboration with higher education institutions and In close collaboration with higher education institutions
other partners, the SNSF strives to create the best and other partners, the SNSF strives to create the best
possible conditions for the development and global possible conditions for the development and global
interconnectedness of Swiss research. It pays interconnectedness of Swiss research. It pays particular
particular attention to the promotion of early-career attention to the promotion of early-career researchers.
researchers.
Main tasks in the project:
Contributor: Task3.1; Task3.2; SubTask3.2.1; SubTask3.2.2; SubTask3.2.3; SubTask3.2.4; SubTask3.2.5;
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Associated Partner 167 - UCB
Name of the legal entity UCB BIOPHARMA
Expertise, available infrastructure(s)
Serving rare patient populations with a high amount of remaining unmet medical need is core to UCB's Patient
Value Strategy. UCB has recently launched novel therapeutics in myasthenia gravis and rare forms of epilepsies
(see above), with multiple additional rare disease indications in the late stage development pipeline. Overall,
~30% of UCB's end to end R&D portfolio is targeting rare diseases. UCB's recent investments in AAV-gene
therapy will offer a key tool to ensure a continued flow of novel solutions & therapeutics tackling the high
unmet need remaining with rare disease patients. One of the key remaining hurdles to ensure the long-term
sustainability of AAV-GT as a widespread & equitable modality are elevated manufacturing costs. Interestingly,
beyond improving process yields, innovation & industry-wide standardization of process analytical technologies
would offer a key lever to optimize QC needs (~volume), enable consistent quality (~safety), and drive wide-
spread access for patients. As such, UCB will focus its contributions specifically on the AAV tasks and
associated regulatory efforts. Beyond lending its expertise, UCB has offered to conduct some analytical
measurements in context of the AAV tasks, leveraging its established in house infrastructure & capabilities.
Main tasks in the project:
Contributor: Task 18.1; WP21.0;
Associated partner 168 - FRAUNHOFER UK
Name of the legal entity FRAUNHOFER UK RESEARCH LIMITED
Expertise, available infrastructure(s)
The European Bank for induced pluripotent stem cells (EBiSC), a non-profit iPSC repository, has an established
infrastructure for the ethical and legal governance, collection, qualification and distribution of iPSCs and
derived cells (e.g. iPSC-neurons) from diverse sources worldwide, as well as secure data management of iPSC
lines and associated datasets, including personal data. Through a multitude of long-term and ongoing
collaborations, EBiSC has extensive expertise in how researchers can integrate ethical and legal governance into
their research projects to enable and simplify sharing and dissemination of research tools and data. Within
ERDERA, we will share this knowledge and expertise through dedicated training sessions which will highlight
common issues and implementable solutions for the safeguarding and sharing of both cells and data, aiming to
increase awareness and ultimately, to expand access to these critical resources.
Main tasks in the project:
Fraunhofer UK
Leader: SubTask20.3.3
Contributor: Task20.3;
Associated partner 169 – GA UK
Name of the legal entity GENETIC ALLIANCE UK LTD
Expertise, available infrastructure(s)
PPIE: We will collaborate with other rare condition support networks in this proposal to ensure all activities
have the necessary Patient and Public Involvement and Engagement contributions, ensuring compatible lived-
experience, expertise and knowledge are available to inform research activities.
Training: We will provide advice and support to those in need of PPIE to ensure the teams are able to deliver
best practice engagement.
Networking: We will support mirror groups to access people living with rare conditions in the UK and those that
support them.
Main tasks in the project:
Contributor: Task1.2; Task5.1; Task5.3; Task20.1; Subtask20.1.1; Task20.3; SubTask20.3.4;
Associated partner 170 - UNEW
Name of the legal entity UNIVERSITY OF NEWCASTLE UPON TYNE
Expertise, available infrastructure(s)
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The Newcastle University (UNEW) team performing this work is based in the John Walton Muscular Dystrophy
Research Centre (JWMDRC). UNEW is one of the top research-intensive universities in the UK: ranked 15th
(out of 157) in the UK for research power. The JWMDRC is a clinical and research centre led by Prof. Volker
Straub, providing a depth of clinical expertise in Muscular Dystrophies unparalleled elsewhere in the UK.
Newcastle houses the MRC Translational Research Centre for Neuromuscular Diseases and Biobank,
established with UCL (London).
UNEW will co-lead WP23 on '(Inter)National capacity alignment', which will ensure the alignment of European
and national RD research policies. UNEW will support the establishment and maintenance of NMGs. The team
has a recognised reputation in developing policy recommendations and national frameworks for rare diseases,
through leading projects such as Rare 2030, RD Action, and the 'State of the Art of Rare Diseases Activities in
Europe' resource. In addition, UNEW will support task 7.3 bringing expertise from genomics projects such as
SOLVE-RD and MYO-SEQ.
Main tasks in the project:
Leader: WP23.0; Task23.2; SubTask23.2.1; SubTask23.2.2; SubTask23.2.3; SubTask23.2.4; Task23.3;
SubTask23.3.1; SubTask23.3.2; SubTask23.3.3
Contributor: Task6.2; Task6.3; Task7.1; Task7.3; Task23.1; SubTask23.1.1; SubTask23.1.2; SubTask23.1.3;
Associated partner 171 – CUH
Name of the legal entity Cambridge University Hospitals NHS Foundation Trust
Expertise, available infrastructure(s)
The NIHR Rare Diseases BioResource (Chief Investigator John Bradley; leads Patrick Chinnery and Willem
Ouwehand) with ~23,000 patients covering 80 rare diseases supports discovery of unknown aetiological genetic
variants and disease mechanisms, with the goal of improving treatment. The BioResource led the rare diseases
pilot for Genomics England, demonstrating for the first time the utility of whole-genome sequencing (WGS) in a
national health system (Turro et al, 0 0). The Next Generation Children’s project demonstrated the utility of
rapid WGS in Neonatal and Paediatric Intensive Care Units (NICU and PICU), leading to implementation of
rapid WGS for critically ill children within the NHS. The NIHR BioResource has established systems for
patients to propose diseases for adoption and research projects that can be supported by the BioResource.
Main tasks in the project:
Contributor: WP8
Associated partner 172 - ULEIC
Name of the legal entity UNIVERSITY OF LEICESTER
Expertise, available infrastructure(s)
Previous notable discoveries made in the host Department of Genetics & Genome Biology at ULEIC include the
discovery and development of DNA fingerprinting, and the DNA-based identification of the remains of King
Richard III. The ULEIC team (12 members - 7M, 5F) have experience leading international data standards such
as GA4GH Beacon, GA4GH ADA-M, IRDiRC DUC/CCE (central to WP13), leading the development of the
Solve-RD data platform (being extended in WP15), leading on a large Data Hub 'Workbench' platform for
dementia with Gates Ventures and IMI (informing cloud and network developments in WP15), and leading on
the query/discovery portal of EJP-RD (being extended in WP13). More specifically, ULEIC will contribute to
Task 13.1, and will co-lead Task 15.1. ULEIC provides the RD-Nexus discovery software, now adopted by
various ERNs and biobanks. This software has been integrated into Molgenis registries and into the Solve-RD
data infrastructure (core to WP15), and it will continue to support the wider ecosystem that feeds the WP13 data
hub. Finally, ULEIC will contribute its wider expertise on data discovery for genomics, clinical data, and patient
matchmaking.
Main tasks in the project:
Leader: Task15.1
Contributor: Task13.2; Task13.3;
Associated partner 173 - QUB-UK
Name of the legal entity THE QUEEN'S UNIVERSITY OF BELFAST
Expertise, available infrastructure(s)
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Dr Mone PhD MSc FRCPI MRCOG is dual qualified in foetal medicine and prenatal genomics. She is a clinical
lecturer and consultant in foetal medicine. She is editor for Ultrasound in Obstetrics and Gynaecology related to
genetics manuscripts primarily and also serves as an invited ISUOG faculty member. Dr Mone demonstrates
international expertise in prenatal genomics by serving as a co-chair for the ISPD SIG on foetal Imaging and
Phenotyping, organising and chairing relevant sessions for ISPD as well as performing abstract judging and
being involved in providing educational sessions. She is elected abstract co-ordinator for the British Maternal
foetal Medicine Society where she organises the annual conference and is a committee member for the foetal
Genomics Group of the British Society of Genomic Medicine. Dr Mone is currently an elected member of the
RCOG scientific impact committee. Dr Mone will be a PI within the proposed study.
Main tasks in the project:
Leader: Task4.1
Contributor: Task7.2; Task10.3; Task13.2;
Associated partner 174 – UCL
Name of the legal entity UNIVERSITY COLLEGE LONDON
Expertise, available infrastructure(s)
UCL will contribute with OGM technology to help diagnose RD patients, having experience using past 2 years
and 4 publications are under review showcasing their work. UCL also have Long-read sequencing publications.
Main tasks in the project:
Leader: Task8.3
Contributor: Task6.2; Task6.3;
Associated partner 175 - UCAM
Name of the legal entity Department of Clinical Neurosciences, University of Cambridge
Expertise, available infrastructure(s)
The third largest department in the Cambridge School of Clinical Medicine, the Department of Clinical
Neurosciences (https://www-neurosciences.medschl.cam.ac.uk/) hosts over 290 staff within 30 research groups
focused on understanding the nervous system in health and disease. The aim is to harness this understanding to
develop new treatments for incurable neurological and related disorders. The Department provides a rich
environment for translational scientists, including groups led by both basic and clinical scientists spanning from
the molecule through to neurons in networks, and the functioning brain and nervous system in health and
disease. The Department promotes inter-disciplinary research at all levels, leveraging the opportunities available
on Europe’s largest Biomedical Campus within one of the world’s leading Universities. The Department
currently attracts in excess of £11 million grant funding annually, primarily from the Medical Research Council,
Wellcome Trust, National Institute for Health Research, European Union and National Institutes of Health. The
project will be done in collaboration with the MRC Mitochondrial Biology Unit (MBU), which is part of the
Department of Clinical Neurosciences. MBU is a world-recognised centre for the study of mitochondrial
medicine and biology.
The third largest department in the Cambridge School of Clinical Medicine, the Department of Clinical
Neurosciences (https://www-neurosciences.medschl.cam.ac.uk/) hosts over 290 staff within 30 research groups
focused on understanding the nervous system in health and disease. The aim is to harness this understanding to
develop new treatments for incurable neurological and related disorders. The Department provides a rich
environment for translational scientists, including groups led by both basic and clinical scientists spanning from
the molecule through to neurons in networks, and the functioning brain and nervous system in health and
disease. The Department promotes inter-disciplinary research at all levels, leveraging the opportunities available
on Europe’s largest Biomedical Campus within one of the world’s leading Universities. The Department
currently attracts in excess of £11 million grant funding annually, primarily from the Medical Research Council,
Wellcome Trust, National Institute for Health Research, European Union and National Institutes of Health. The
project will be done in collaboration with the MRC Mitochondrial Biology Unit (MBU), which is part of the
Department of Clinical Neurosciences. MBU is a world-recognised centre for the study of mitochondrial
medicine and biology.
Main tasks in the project:
Contributor: Task6.2; Task6.3; Task8.4;
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Work that is going to be performed by associated partners (Article 9.1 of the MGA)
151 – AZ
152 – CHEO-RI
153 – CIHR
154 – DFG
155 – FDB
156 – FRQS
157 – HIPRA
158 – LAB HIPRA
159 – MICYRN
160 – Miltenyi
161 – Pfizer
162 – RCC
163 – REI See description of their planned activities above
164 – RJF
165 – ROCHE
166 – SNSF
167 – UCB
168 – Fraunhofer UK
169 – GA UK
170 – UNEW
171 – CUH
172 – ULEIC
173 – QUB-UK
174 – UCL
175 – UCAM
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Budget considerations:
The estimation of the overall budget of ERDERA, including 3 years and 7 years instalments is presented
below. The total budget corresponds to the overall cost of the activities, while the EC request corresponds
to the expected reimbursement. It is important to underline that the difference between total and EC request
corresponds to the minimum in-kind contribution to be provided by the partners. It is expected that this in-
kind contribution will be higher than indicated since the sum of indicative in-kind commitments
summarized in the Letters of Intents of 1 organisations from countries amounted at 1 6.7 Million €.
In that way, the ERDERA consortium ensures that overall, in cash and in-kind commitments to the
programme will be sufficient to cover the total costs of the activities, but also to obtain the expected
reimbursement of the EC planned for + 7 years (around 1 0 Million €).
In addition, ERDERA comprises 18 Associated Partners (industry and public funding bodies) that jointly
committed 1 .76 Million €. These budgets are indicated in the table below. All Associated artners are
fully committed to ERDERA, which is reflected by their direct participation in different WPs and tasks and
will be formalised additionally within the Consortium Agreement.
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2.1. Resources to be committed.
2.1.1. Summary effort table
Table 2.3.d: Summary of staff effort for Year 1 (Leaders in bold)
The number of PMs per partner reflects the total effort of the partner. However, the number of PMs corresponding to INSERM includes also the PMs put aside
as “central budget” and that will be allocated during the programme run according to task definition and assignment to specific partners.
The low number of PMs for some beneficiaries is related to the fact that some budgets will be allocated at later stage and thus (potentially) distributed to those
partners. Nevertheless, their participation was considered as essential from the start of the programme. It is expected that the final number of PMs and costs
per partner will be adjusted on a yearly basis during the development of the AWP and based on the performance and strategic indications.
N° WP WP WP WP WP WP WP WP WP WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP2 WP2 WP2 WP2 WP2 WP2 TOTA
Ben. 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 L PM
1 90 46 1,2 2 8,62 28,8 4 3,86 4 188,48
1.1 2 6 14,5 22,5
2 12 24 6 42
14,7
3 1 1 16,75
5
4 1 3,25 0,4 4,65
5 0,75 1,6 12 3,56 17,91
6 0,75 1,25 2
7 1 1,45 2 4 2,58 3 14,03
8 27 18 4,5 9 8 12 2 80,5
9 15 0,5 4 19,5
10 24 27 1,5 13,5 9 6,9 81,9
11 3 33 33 12 5,2 5 2,5 3 96,7
12 3 21 0,5 24,5
13 50 21 9 12 0,97 92,97
14 24 9 33
15 9 21 6 4,38 40,38
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N° WP WP WP WP WP WP WP WP WP WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP2 WP2 WP2 WP2 WP2 WP2 TOTA
Ben. 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 L PM
10,3
16 3 9 6 8 2 0,5 38,89
9
13,2
17 3 0,5 16,78
8
10,7
18 4 9 9 8,25 40,96
1
10,7
19 9,6 3 3 26 0,5 52,81
1
20 1 6,14 5 10 0,5 0,4 23,04
21 12 12
22 11 14 3 12 40
23 12 0,5 3 20 35,5
24 3 18 9 12 42
25 12 1 13
26 4 1 0,2 9 21,4 6,43 0,4 42,43
27 1 3 6 14 4 9,2 37,2
28 19,08 19,08
29 1,75 0,5 2 12 2,14 30 48,39
30 2,8 12 14,8
31 8 8
32 1 9,87 0,4 11,27
33 8,4 8,4
34 1,8 4 5,8
35 1 1
36 6,25 3 9,25
37 3 3
38 3 3
39 7 3,4 10,4
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N° WP WP WP WP WP WP WP WP WP WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP2 WP2 WP2 WP2 WP2 WP2 TOTA
Ben. 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 L PM
40 0
41 0 0
42 3 6 4 13
43 2,4 3,6 6
44 17,7 17,7
45 6,5 6,5
46 3 3
47 18 18
48 3 3
49 6 0,75 0,2 6,95
50 6 3 3,3 12,3
51 8 4 2 14
52 0
53 3 5 2 10
54 0,75 0,75
55 20,6 20,6
56 0,75 0,75
57 1,5 1,5
58 0,75 0,75
59 0,75 0,75
60 7,7 7,7
61 0,75 0,75
62 0
62-1 0,75 0,75
63 17,9 17,9
64 3,14 3,14
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N° WP WP WP WP WP WP WP WP WP WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP2 WP2 WP2 WP2 WP2 WP2 TOTA
Ben. 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 L PM
65 2 2
66 3,73 3,73
67 0,75 0 4 2,58 7,33
68 3 4,2 4 5,3 16,5
69 0,75 0,75
70 4,5 1 6,5 12
71 3 3
72 1,2 6 1 6 4 0,4 18,6
73 4 4
74 1 1
75 0,6 3 3,6
76 0,75 0,75
77 3 1,2 12,29 16,49
78 0,75 0,75
79 9 9
80 3 3
81 3 6 4 13
82 0,75 0,75
83 0,75 0,75
84 3 3
85 4 4
86 3 3
87 6 6
88 3 3
89 14,31 14,31
90 0
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N° WP WP WP WP WP WP WP WP WP WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP2 WP2 WP2 WP2 WP2 WP2 TOTA
Ben. 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 L PM
91 0,75 0,75
92 0,75 0,75
93 3 6,59 9,59
94 0,75 2,58 3,33
95 3 3
96 0,5 0,71 1,21
97 10 10
98 0,75 0,75
99 1,8 6,9 8,7
100 0,75 0,75
101 0,75 0,75
102 9 9
103 0,75 0,75
104 0,75 0,75
105 2 2
106 28 28
107 4 4
108 0,75 2,58 3,33
109 0,95 0,95
110 6,64 6,64
111 1 3,14 4,14
112 5,2 5,2
113 8,94 8,94
114 4 4
115 8 2,62 10,62
116 3 3
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N° WP WP WP WP WP WP WP WP WP WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP2 WP2 WP2 WP2 WP2 WP2 TOTA
Ben. 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 L PM
117 3 3
118 3 3
119 3 3
120 1,8 0,2 1 0,2 3 6,2
121 6 7,25 4 17,25
122 3,4 3,4
123 2,14 0,4 2,54
124 6,62 6,62
125 3 5,98 8,98
126 0,75 0,75
127 1,5 1,5
128 3 3
129 0,75 0,75
130 3 3
131 0,71 0,71
132 2,82 2,82
133 3 3
134 4,2 4,2
135 1,8 1,8
136 0
136-
5 2 7
1
137 15 15
138 0,75 0,75
139 0,75 0,75
140 12,08 12,08
141 4 5,1 9,1
Page 222 of 244
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N° WP WP WP WP WP WP WP WP WP WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP2 WP2 WP2 WP2 WP2 WP2 TOTA
Ben. 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 L PM
142 0,5 0,4 0,9
143 3 3
144 0,75 0,75
145 5 1 6
146 0
147 3 3
148 3 3
149 3 3
150 2,4 2,4
151 2 8,8 10,8
152 0 0
153 0 0 0
154 0 0
155 2,4 6 8,4
156 0 0
157 2,5 3,57 6,07
158 1,3 1,92 3,22
159 0 0
160 2,4 17 19,4
161 0,33 1 3,8 5,13
162 0 0
163 17,47 17,47
164 3,1 4,62 7,72
165 0,33 1 4,8 6,13
166 0 0
167 1 7,2 8,2
Page 223 of 244
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N° WP WP WP WP WP WP WP WP WP WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP1 WP2 WP2 WP2 WP2 WP2 WP2 TOTA
Ben. 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 6 7 8 9 0 1 2 3 4 5 L PM
168 1 1
169 1,8 0,2 1,2 3,2
170 3 6 12 21
171 0
172 1,43 5,5 6,93
173 0,6 0,6
174 3 3
175 3 3
Tot 79,9 102, 258,5 71,3 2035,2
207 24 46,3 4,2 5,45 241 108 79,5 173 72 33 30 52,1 79,5 82,8 20 54,9 41,8 45 71 52,2
al 4 7 1 9 9
Page 224 of 244
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Associated with document Ref. Ares(2024)5602406 - 02/08/2024
2.1.2. Other major costs table
Table . .e: ‘ urchase costs’ items for the three years and for Year (travel and subsistence,
equipment and other goods, works and services)
The table of Purchase costs summarizes the budgets for year 1. The table below shows for each participant
if the purchase costs (i.e. the sum of the costs for ’travel and subsistence’, ‘equipment’, and ‘other goods,
works and services’) exceeds 1 % of the personnel costs for that participant, detailing cost items up to the
level that the remaining costs are below 15% of personnel costs.
1/INSERM Cost (€) Justification
W 1: travel to consortium meetings (1 pax per partner/1000€ per travel) (1000€);
CENTRAL BUDGET - to be attributed - travel to 1 consortium meetings (1 pax
per partner/1000€ per travel) (1 000€);
WP23: U974 - Travel costs/accommodation costs for the NMG meetings ;
Travel and subsistence 80 700 CENTRAL BUDGET - To be attributed -Travel costs/accommodation costs for
the Annual workshop NMG; Travel costs/accommodation WP meetings and
workshop organisation; Participation on scientific conferences for dissemination
purposes;
WP25: Strategic Alliances - RD mission and representation ( 000€);
CENTRAL BUDGET - To be attributed - consortium meeting ( 0000€)W 1;
CENTRAL BUDGET - To be attributed - Budget for Multistakeholder board
( 000€) W 1; CENTRAL BUDGET - To be attributed - JTC Monitoring
meetings ( 000€) W ; Future MAB thematic groups WP1; Data management
tools & other licences ; consumables (T21.1) (T21.2) consumables for
understanding of current LNPs/EVs/NPs in T21.3.1, the evaluation of efficacy on
Other goods, works and
534 457 T21.3.3, demonstration of scalability in T21.3.4 consumables - rodent models to
services
mimic adaptive immune response (T21.5.2) and Cas9 immunogenicity in rodent
models (T21.5.4) ; CENTRAL BUDGET - To be attributed -Publication costs
WP23 ; CENTRAL BUDGET - to be attributed - Use case incentives for
underrepresented countries (long-read genomics tests) ; Inserm ART-ARNm -
consumables and models (rodents, organoids..) for PoC studies (T3) ;
publication fees WP11
Remaining purchase costs
3 000
(<15% of pers. Costs)
TOTAL 618 157
2/TEAMIT Cost (€) Justification
WP2.3. All the communication materials and tools such as videos, infographics,
Other goods, works and
122 900 animated infographics, design, website back-end programming and maintenance,
services
podcast, outsourcing engagement events
Remaining purchase costs 1 000
TOTAL 123 900
3/DLR Cost (€) Justification
W 1: travel to 1 consortium meetings (1 pax per partner/1000€ per travel)
(1000€);
W 1: JTC CSC travel to monitoring meetings (1 meetings x7 0€) (7 0€) ;
Travel and subsistence 4 700
W :Travel costs to evaluation meetings at average budget of 7 0 € ( 00
Travel+240 Hotel 2 nights) (1 80€) ;
WP4: travel costs of partners for WP4 meetings)
W . . Evaluation meetings JTC 0 ( 0K€ per meeting) (80000€) W ;
Other goods, works and Reimbursement of patient experts ( experts, 00 € per meeting, 1 meeting)
87 628
services (1 00€) W ; Reimbursement of ethics experts ( experts per proposal, 100 € per
review, 1 proposals) (6 8€) W
TOTAL 92 328
4/ANR Cost (€) Justification
W 1: travel to 1 consortium meetings (1 pax per partner/1000€ per travel)
(1000€);
Travel and subsistence 3 220 W 1: JTC CSC travel to monitoring meetings (1 meetings x7 0€) (7 0€) ;
W :Travel costs to evaluation meetings at average budget of 7 0 € ( 00
Travel+240 Hotel 2 nights) (1 80€) ;
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TOTAL 3 220
5/FTELE Cost (€) Justification
W 1: travel to 1 consortium meetings (1 pax per partner/1000€ per travel)
(1000€);
W 1: JTC CSC travel to monitoring meetings (1 meetings x7 0€) (7 0€) ;
Travel and subsistence 4 700
W :Travel costs to evaluation meetings at average budget of 7 0 € ( 00
Travel+ 0 Hotel nights) (1 80€) ;
WP4: travel costs of partners for WP4 meetings
Remaining purchase costs 700
TOTAL 5 400
6/LMT Cost (€) Justification
W 1: travel to 1 consortium meetings (1 pax per partner/1000€ per travel)
(1000€);
Travel and subsistence 3 220 W 1: JTC CSC travel to monitoring meetings (1 meetings x7 0€) (7 0€) ;
W :Travel costs to evaluation meetings at average budget of 7 0 € ( 00
Travel+240 Hotel 2 nights) (1 80€) ;
TOTAL 3 220
8/UT Cost (€) Justification
W 1: travel to 1 consortium meetings (1 pax per partner/1000€ per travel)
(1000€);
WP20.3.1: travels and accommodation for 8 trainers/staff for 2-3 days /year + 2
Travel and subsistence 11 867 fellowships/year
WP6: Workshop to prepare, facilitate and instigate diagnostic research data
collation and federation
WP9: T3 - 2 meeting travels/yr T5 - 2 travels/yr
Other goods, works and Task 20.3.1. Catering costs: 30 people, 2 to 3-day meeting / year ; Case study 1 ;
107 624
services WP10: T1 Longitudinal validation studies PROM ;
TOTAL 119 491
13/UKHD Cost (€) Justification
W 1: travel to 1 consortium meeting and W meetings (1000€)
Travel and subsistence 23 000 WP9: T2 - 2 meeting travels/yr for 4 years (6 travels in Y1 to 3) T3 - 1 workshop
+ 12 travels T4 - 4 travels/yr T5 - 2 travels/yr T6 - 6 travels
WP9: RESERVE POT - to be allocated - T3 - financial support to external
partners (cohort data provision) ; RESERVE POT - to be allocated - T6 -
financial support to external partners (provision of additional data to improve
cohort quality) ;
WP10: RS - Longitudinal validation studies PROM (T1) ; RS - Meetings (T1) - 2
Other goods, works and
199 540 meetings per use case ; RS - T1 A reimbursement (10.000€ per year per use
services
case));
WP11: Workshops ( T1/multistakeholder);
WP12: IT infrastructure registry for N-of-1 treatment