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Table 1 List of RD resources

From: Impact of biobanks on research outcomes in rare diseases: a systematic review

Study ID Author Link to resource (reference number) Resource name Registry with Biobank (REG + BB) Stand-alone registry onlya (REG) Stand-alone Rare DiseaseBiobank (RDBB) Themes associated with resource
N1–001 O’Souji, C [31] The Children’s Oncology Rare and Cutaneous NHL registry 2    CO, CT, B
N1–002 Mora, M [17] The Eurobiobank Network    2 BS, T, CT, F, B
N1–003 Filocomo, M [19] Telethon Network of Genetic Biobanks    2 BS, T, CO, F, B
N1–004 Ebner, K [27] The European ARPKD registry 2    CO, CT, F
N1–005 Blain, D [18] Eyegene 2    BS, CT, F
N1–006 Bush, A [32] European Management Platform for Childhood Interstitial Lung Diseases 2    CT, F
N1–007 Martin, N [29] The UK JDM cohort biomarker study and repository Juvenile Dermatomyositis (UK and Ireland) Cohort Biomarker study and Repository for Idiopathic Inflammatory Myopathies 2    CO, CT, F, B
N1–008 Fisher, C [25] The PTS registry and biobank network - an AOSpine Knowledge forum tumour study 2    BS, CO, CT, F, B
N1–009 Ugolini, D [35] The CREST biorepository    1 F
N1–010 Brandenburg, V [24] The German Calciphylaxis registry 1    BS, CO, CT, F, B
N1–011 Struik, M [48] The Dutch Lymphangioleiomyomatosis (LAM) registry 1    F
N1–012 Squitieri, F [49] Italian Huntington Disease patients - data and tissue bank 1    F
N1–013 Li, J [13] Friedrich’s Ataxia fibroblast repository    1 F
N1–014 Zhou, L [14] The Tumour Bank at the Children’s Hospital Westmead (TB-CHW)    0 F
N1–015 Bladen, C [33] The TREAT-NMD Duchenne Muscular Dystrophy Registries   2a   CT, B
N1–016 Webb, S [30] The European Registry of Cushing’s Syndrome (ERCUSYN) registry   2   CO, CT, F
N1–017 Sharkey, E [47] The NF1 Patient Registry Initiative   2   CO
N1–018 Rodger, S [23] The TREAT-NMD care and trial site registry   2   BS, CO, F, B
N1–019 Tilson, H [26] The Cryopyrin-associated periodic syndrome (CAPS) registry   2   T, CO, CT, F, B
N1–020 Mistry, P [28] The International Collaborative Gaucher Group (ICGG) Gaucher registry   2   CO, CT
N1–021 Evangelista, T [21] The UK Facioscapulohumeral muscular dystrophy patient registry   1a   BS, CO, CT, F, B
N1–022 Hilbert, J [22] The National Registry of Myotonic Dystrophy (MD) and Facioscapulohumeral (FSHD)   1   BS, CO, F
N1–023 Fasnacht, M [20] The Swiss Registry for Pulmonary Arterial Hypertension   1   BS, CO, CT, F
N1–024 Downs, J
Leonard H, Louise, S
[7, 51] The Australian Rett Syndrome Database
The InterRett Database
  1
2
  CO, F
N1–025 Korngut, L [34] The Canadian Neuromuscular Disease Registry (CNDR)   1   F, B
N1–026 Fehr, S [50] The International CDKL5 Disorder Database   2   CO, F
N1–027 Akbarnia, B   The Growing Spine Study Group   2   CO, CT, F
N1–028 Tada, M [52] The Rare Disease Bank of Japan: establishment, current status and future challenges    1 F, O
  1. BS Basic Science, T Translational Science, CO Clinical Observation, CT Clinical Treatment, F Facilitators, B Barriers, 0–Single site, 1–National, 2–International
  2. aDenotes registries that, in addition to collecting clinical data, also collect genetic information. These registries do not collect or store biological samples, and as such, are still considered registries only