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 | 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 |