Background
Methods
Results
Name of Registry | Country | Year established | DM1 > 18 | DM1 < 18 | DM2 > 18 | DM2 < 18 |
---|---|---|---|---|---|---|
National Registry for Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members | USA | 2000 | 1177 | 67 | 214 | 0 |
CRAMPS | Netherlands | 2001 | 452 | 0 | 30 | 0 |
Genemu** | Quebec, Canada | 2005 | N/A | N/A | N/A | N/A |
Belgian Neuromuscular Disease Registry | Belgium | 2008 | 493 | 34 | 16 | 2 |
DM-SCOPE | France | 2008 | 2203 | 255 | 107 | 0 |
Bulgarian Myotonic Dystrophy Registry | Bulgaria | 2009 | 76 | 2 | 6 | 0 |
Akhenaten, Serbian Registry for Myotonic Dystrophies | Serbia | 2009 | 335 | 0 | 86 | 0 |
Polish Registry of Neuromuscular Patients | Poland | 2010 | 246 | 7 | 125 | 0 |
ReaDY Myotonic Disorders | Czech Republic | 2011 | 184 | 5 | 286 | 2 |
Canadian Neuromuscular Disease Registry | Canada | 2011 | 188 | 21 | 38 | 0 |
New Zealand Neuromuscular Disease Registry | New Zealand | 2011 | 156 | 11 | 11 | 0 |
Myotonic Dystrophy Patient Registry for Germany and Switzerland | Germany and Switzerland | 2012 | 243 | 16 | 246 | 3 |
UK Myotonic Dystrophy Patient Registry | UK | 2012 | 429 | 45 | 16 | 0 |
China DM Registry | China | 2012 | 61 | 8 | 0 | 0 |
Spanish Registry of neuromuscular diseases | Spain | 2012 | 265 | 6 | 7 | 0 |
Egyptian neuromuscular registry | Egypt | 2013 | 4 | 6 | 5 | 3 |
The Italian registry for Myotonic Dystrophy | Italy | 2013 | 491 | 16 | 31 | 0 |
Myotonic Dystrophy Family Registry* | USA | 2013 | 1051* | 250* | ||
NMiS | Sweden | 2013 | 194 | 17 | 0 | 0 |
Registry of Muscular Dystrophy REMUDY | Japan | 2014 | 554 | 45 | 1 | 0 |
Ukrainian registry of muscular dystrophies | Ukraine | Not provided | 3 | 1 | 0 | 0 |
Australian Myotonic Dystrophy Registry*** | Australia | Data collection has not yet begun | 0 | 0 | 0 | 0 |
Totals | 9156 | 1485 | ||||
Total registered globally | 10,641 |
Mandatory and highly encouraged items
Purpose and utility of the registries
Registry characteristics
Coverage of Registry | Scope of Registry | Funding Mechanism | Annual running costs | Data collection tool | Who enters the data | |
---|---|---|---|---|---|---|
National Registry for Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members (USA) | USA | DM1,DM2,FSHD | Grant or Project funding | Unknown | Paper Electronic database (Access, SAS) | Healthcare professional (nurse, clerk, research assistant) Patients Clinical specialists |
CRAMPS | Netherlands | All neuromuscular diseases | Healthcare System | Unknown | Electronic database | Clinical specialists |
Genemu | Quebec | DM1, DM2 | Grant or Project funding | €23,000 | N/A | Healthcare professional (nurse, clerk, research assistant) |
BNMDR | Belgium | All Neuromuscular diseases | Healthcare system | € 145,000 | Electronic database (healthdata.be) Paper | Healthcare professional (nurse, clerk, research assistant) Clinical Specialists |
DM-SCOPE | France | DM1, DM2 | Charity | €140,000 | N/A | Healthcare professional (nurse, clerk, research assistant) Clinical specialists Geneticist (diagnostic lab) |
Akhenaten, Serbian Registry for Myotonic Dystrophies | Serbia | DM1, DM2 | Grant or Project funding | Unknown | Electronic database | Clinical specialists |
Bulgarian Myotonic Dystrophy Registry | Bulgaria | DM1, DM2 | N/A | € 0 | Electronic database (Excel) | Clinical specialists |
Polish Registry of Neuromuscular Patients | Poland | DM1, DM2, SMA, DMD/BMD | Project Grant | €0 | Paper Electronic database | Clinical specialist |
Canadian Neuromuscular Disease Registry | Canada | All neuromuscular diseases | Industry, Charity, Grant or project funding | € 200,000 | Electronic database (custom solution) | Healthcare professional (nurse, clerk, research assistant) |
New Zealand Neuromuscular Disease Registry | New Zealand | All neuromuscular diseases | Charity | € 30,000 | Electronic database (RDRF) | Healthcare professional (nurse, clerk, research assistant) Patients |
ReaDY Myotonic Disorders | Czech Republic | All myotonic disorders | Charity | €10,000 | Electronic database (Oracle) | Clinical specialists |
China DM Registry | China | All Neuromuscular diseases | Healthcare system | €7500 | ||
Myotonic Dystrophy Patient Registry for Germany and Switzerland | Germany and Switzerland | DM1, DM2 | Unknown | Unknown | Electronic database | Clinical specialists General practitioners Patients |
Spanish Registry of neuromuscular diseases | Spain | All Neuromuscular diseases | Grant or project funding | € 50,000 | Electronic database (SQL) | Clinical specialists |
UK Myotonic Dystrophy Patient Registry | UK | DM1, DM2 | Charity Grant of project funding | € 15,000 | Electronic database (custom solution) | Healthcare professional (nurse, clerk, research assistant) Patients Clinical specialists |
Egyptian neuromuscular registry | International | All Neuromuscular diseases | Healthcare system | €200 | Paper | Clinical specialists |
Myotonic Dystrophy Family Registry | International | DM1, DM2 | unknown | unknown | Electronic database (patient crossroads) | Patients Family members |
NMiS | Sweden | All inherited myopathies | Government funding | € 10,000 | Electronic database | Clinical specialists |
The Italian registry for Myotonic Dystrophy | Italy | DM1, DM2 | Grant or project funding. | € 30,000 | Electronic database | Patients Clinical specialists |
Registry of Muscular Dystrophy REMUDY | Japan | All Neuromuscular diseases | Grant of project funding | €420,000 | Paper Electronic database (custom solution) | Patients Clinical specialists |
Australian Myotonic Dystrophy Registry | Australia | DM1, DM2 | Government, Hospital and Clinical groups. | € 12,954 | Electronic database | Clinical specialists Healthcare professional (nurse, clerk, research assistant) Geneticist (diagnostic lab) |
Ukrainian registry of muscular dystrophies | Ukraine | All neuromuscular diseases | Charity | Unknown | Paper Electronic database (excel) | Clinical specialists General practitioners Patients |
Resources and technical solutions
Data entry
Alternative cohorts
Discussion
Utility and proliferation of the “Naarden Dataset”
Future harmonisation and interoperability
Conclusion
Highlights
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Disease-specific Patient Registries are indispensable platforms to succeed with therapeutic solutions.
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Over 10,000 myotonic dystrophy patients captured in registries worldwide.
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Twenty-two registries collect a comparable dataset on myotonic dystrophy patients.
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There is still a huge variety in data collection and funding mechanisms among registries.
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Significant clinical research has been supported by these myotonic dystrophy registries.