The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities

Paediatrics & Child Health
Yi WeiCraig Campbell

Abstract

Patient registries serve an important role in rare disease research, particularly for the recruitment and planning of clinical trials. The Canadian Neuromuscular Disease Registry was established with the primary objective of improving the future for neuromuscular (NM) patients through the enablement and support of research into potential treatments. In this report, we discuss design and utilization of the Canadian Neuromuscular Disease Registry with special reference to the paediatric cohort currently enrolled in the registry. As of July 25, 2017, there are 658 paediatric participants enrolled in the registry, 249 are dystrophinopathies (229 are Duchenne muscular dystrophy), 57 are myotonic dystrophy participants, 98 spinal muscular atrophy participants and 65 are limb girdle muscular dystrophy. A total of 175 patients have another NM diagnosis. The registry has facilitated 20 clinical trial inquiries, 5 mail-out survey studies and 5 other studies in the paediatric population. The strengths of the registry are discussed. The registry has proven to be an invaluable tool to NM disease research and has increased Canada's visibility as a competitive location for the conduct of clinical trials for NM therapies.

References

Oct 4, 2011·Paediatrics & Child Health·Patrick PrendergastCraig Campbell
Nov 4, 2011·Orphanet Journal of Rare Diseases·Adele D'AmicoEnrico Bertini
Feb 19, 2013·The Journal of Pediatrics·Craig CampbellPierre Jacob
Aug 24, 2013·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Lawrence KorngutUNKNOWN CNDR Investigator Network
Sep 3, 2013·The New England Journal of Medicine·Michael S Lauer, Ralph B D'Agostino
Dec 23, 2014·Neuroepidemiology·Alice TheadomValery Feigin
Oct 30, 2015·Developmental Medicine and Child Neurology·Nicholas E JohnsonChad R Heatwole
Nov 10, 2015·JAMA : the Journal of the American Medical Association·Robert A Harrington

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Citations

Dec 6, 2018·Orphanet Journal of Rare Diseases·Céline GuienChristophe Béroud
Feb 11, 2020·Disability and Rehabilitation·Sander L HitzigJorge Rios

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