Table 1.
Characteristics of included articles and respective registries
| First author | Publication Year | Registry name | Disease area(s) | Country* | Coverage† | Launch | n‡ |
|---|---|---|---|---|---|---|---|
| Ali [16] | 2020 | European Registries for Rare Endocrine Conditions (EuRRECa) | Rare endocrine conditions | United Kingdom | Continental | 2018 | 5500 |
| Alvis [17] | 2020 | Colombian registry of haemophilia and other coagulopathies | Hemophilia and other coagulopathies | Colombia | National | 2015 | 4395 |
| Bassanese [18] | 2021 | European Rare Kidney Disease Registry (ERKReg) | Rare kidney diseases | Germany | Continental | 2019 | 7607 |
| Bellgard [19] | 2012 | Australian National Duchenne Muscular Dystrophy Registry | Duchenne and Becker’s muscular dystrophy | Australia | National | 2010 | / |
| Beswick [20] | 2016 | Cole-Reagins Registry for Sinonasal Cancer (CORSICA) | Malignancy of the paranasal sinuses | United States | National | / | / |
| Blankshain [21] | 2016 | The University of Illinois at Chicago (UIC) Neuro-Ophthalmology Registry | Neuro-ophthalmic diseases | United States | National | / | / |
| Chalmers [22] | 2017 | European Multicentre Bronchiectasis Audit and Research Collaboration (EMBARC) registry | Bronchiectasis | United Kingdom | Continental | 2015 | > 8000 |
| Clarke [23] | 2011 | Fabry Outcome Survey (FOS) | Fabry disease | Sweden | Global | 2001 | 1616 |
| De Antonio [24] | 2019 | French myotonic dystrophy registry (DM-Scope) | MD | France | National | 2008 | 2970 |
| Eades-Perner [25] | 2007 | European registry of primary immunodeficiencies (ESID) | Primary immunodeficiencies | Germany | Continental | 2004 | 2386 |
| Evangelista [26] | 2016 | UK FSHD registry | FSHD | United Kingdom | Regional | 2012 | 518 |
| Feenstra [27] | 2006 | European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA) | Rare chromosome aberrations | United Kingdom | Continental | 2003 | ~ 4000 |
| Finkel [28] | 2020 | Registry of Patients with a Diagnosis of Spinal Muscular Atrophy (RESTORE Registry) | SMA | United States | Global | 2018 | 64 |
| Fischer [29] | 2014 | PedNet Haemophilia registry | Hemophilia | Netherlands | Global | 2004 | 1094 |
| Guien [30] | 2018 | French National FSHD Registry | FSHD | France | National | 2013 | 638 |
| Hilber(31) | 2012 | National Registry of MD and FSHD | MD and FSHD | United States | National | 2002 | 1611 |
| Jaussaud [32] | 2006 | The French ‘observatoire’ on Gaucher’s disease (FROG) | Gaucher’s disease | France | National | 2005 | 0 |
| Javaid [33] | 2016 | Rare UK Diseases Study (RUDY) platform | Rare disorders of the musculoskeletal system or blood vessels | United Kingdom | Regional | 2014 | 380 |
| Khatami [34] | 2016 | The European Narcolepsy Network (EU-NN) database | Narcolepsy and other hypersomnias | Switzerland | Continental | 2008 | 1079 |
| Kingswood [35] | 2014 | TuberOus SClerosis registry to increase disease Awareness (TOSCA) | Tuberous sclerosis complex | United Kingdom | Global | 2011 | 2216 |
| Mallbris [36] | 2007 | Swedish Hereditary Angioedema Registry (Sweha-Reg) | Hereditary angioedema | Sweden | National | 2007 | / |
| Marques [37] | 2020 | Portuguese inherited retinal dystrophies registry (IRD-PT) | Inherited retinal dystrophies | Portugal | National | 2017 | 1800 |
| Mercier [38] | 2019 | Desmoid Tumor Research Foundation (DTRF) Patient Registry | Desmoid tumors | United States | Global | 2017 | 329 |
| Ng [39] | 2011 | UK Primary Sjogren’s Syndrome Registry (UKPSSR) | Primary Sjogren’s Syndrome | United Kingdom | Regional | 2009 | 500 |
| Nurok [40] | 2010 | International lymphangioleiomyomatosis (LAM) Registry | Lymphangioleiomyomatosis | United States | Global | 2010 | / |
| Opladen [41] | 2016 | International Working Group on Neurotransmitter Related Disorders (iNTD) | Primary and secondary neurotransmitter-related disorders | Germany | Global | 2014 | 95 |
| Opladen [42] | 2021 | Unified European Registry for Inherited Metabolic Disease (U-IMD registry) | inherited metabolic diseases | Germany | Continental | 2019 | 1193 |
| Orbach [43] | 2021 | Paediatric Rare Tumours Network -European Registry (PARTNER) | Very rare pediatric tumors | Italy | Global | 2016 | / |
| Osara [44] | 2017 | Newborn Screening (NBS) Connect | Inherited metabolic disorders | United States | National | 2012 | 442 |
| Patel [45] | 2010 | North American Skull Base Society (NASBS) database | Skull base tumors treated with craniofacial surgery | United States | Continental | 2004 | / |
| Pechmann [46] | 2019 | SMA patient registry (SMArtCARE) | SMA | Germany | Regional | 2017 | / |
| Reincke [47] | 2006 | German Acromegaly Registry | Acromegaly | Germany | National | 2003 | 1543 |
| Roy [48] | 2015 | Belgian Neuromuscular Disease Registry | Neuromuscular diseases | Belgium | National | 2008 | 3424 |
| Seidel [49] | 2017 | Global Rare Fungal Infection Registry (FungiScope™) | Rare invasive fungal diseases | Germany | Global | 2003 | 794 |
| Spahr [50] | 2021 | MyeliNeuroGene Database | Rare diseases | Canada | National | 2011 | 1000 |
| Tingley [51] | 2020 | Canadian Inherited Metabolic Diseases Research Network (CNMDRN) database | Inherited metabolic diseases | Canada | National | 2012 | 798 |
| Viviani [52] | 2015 | European Cystic Fibrosis Society Patient Registry (ECFSPR) | Cystic fibrosis | United Kingdom | Continental | 2003 | > 30,000 |
Abbreviations: MD, myotonic dystrophy; FSHD, facioscapulohumeral muscular dystrophy; SMA, spinal muscular atrophy
*Country of coordinating entity
†Geographical coverage
‡Number of participants included in registry at time of publication