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Article
The Canadian Neuromuscular Disease Registry: Connecting Patients to National and International Research Opportunities
Paediatrics & Child Health
  • Yi Wei, Western University
  • Anna McCormick, University of Ottawa
  • Alex MacKenzie, University of Ottawa
  • Erin O'Ferrall, McGill University
  • Shannon Venance, Western University
  • Jean K Mah, University of Calgary
  • Kathryn Selby, University of British Columbia
  • Hugh J McMillan, University of Ottawa
  • Garth Smith, Queen's University
  • Maryam Oskoui, McGill University
  • Gillian Hogan, Erin Oak Kids Centre for Treatment and Development
  • Laura McAdam, University of Toronto
  • Gracia Mabaya, Western University
  • Victoria Hodgkinson, University of Calgary
  • Josh Lounsberry, University of Calgary
  • Lawrence Korngut, University of Calgary
  • Craig Campbell, University of Western Ontario
Document Type
Article
Publication Date
2-1-2018
URL with Digital Object Identifier
https://doi.org/10.1093/pch/pxx125
Disciplines
Abstract

Introduction

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.

Methods

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.

Results

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.

Discussion

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.

Notes

Copyright belongs to the authors

Citation Information
Yi Wei, Anna McCormick, Alex MacKenzie, Erin O'Ferrall, et al.. "The Canadian Neuromuscular Disease Registry: Connecting Patients to National and International Research Opportunities" Paediatrics & Child Health Vol. 23 Iss. 1 (2018) p. 20 - 26
Available at: http://works.bepress.com/craig-campbell/14/