The neuromuscular network for Canada

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Patient registries

Leads: Craig Campbell, Lawrence Korngut

Patient registries collect information about individuals who are affected by a particular condition and are a particularly important research and networking tool for rare diseases. The data collected may be used for a range of purposes, from research into specific features of the disease to clinical trial feasibility planning and recruitment. Patients who join registries can be contacted with information relevant to their condition and notified when they may be eligible for research studies and clinical trials.

In Canada, the Canadian Neuromuscular Disease Registry (CNDR) and its network of site investigators and research coordinators has become an ideal model for rare NMD registries globally. The registry has recruited 4,000 patients with various NMDs since its launch in 2010. It has facilitated 35 trials and 75 additional data inquiries and research projects.

Through the resources of NMD4C, FAIR data principles (Findable, Accessible, Interoperable, Reusable) will be incorporated into CNDR functions in order to make the data more amenable to research queries. The registry will be further developed by updating existing disease modules to ensure they capture the information useful for the diseases in question and by adding new disease modules for congenital myasthenic syndrome and congenital myopathies. The registry will continue to support academic and industry-led research including quality-of-life, burden of illness and preference studies. Working with MDC, we will determine the feasibility of developing a patient portal that allows patients to self-report their data.

Outputs:

  • Updated existing CNDR disease datasets
  • Plan for FAIRification of datasets
  • New disease datasets*
  • External research projects supported through CNDR*
  • Feasibility study for patient portal for CNDR*

 

*demonstration project to be supported by separate funding

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Relevant publications

El-Aloul, B, Speechley, KN, Wei, Y, Wilk, P, Campbell, C. Fatigue in young people with Duchenne muscular dystrophy. Dev Med Child Neurol. 2020.62 (2)245-251 PMID:30980541

Hodgkinson, VL, Lounsberry, J, Mirian, A, Genge, A, Benstead, T, Briemberg, H et al.. Provincial Differences in the Diagnosis and Care of Amyotrophic Lateral Sclerosis. Can J Neurol Sci. 2018.45 (6)652-659 PMID:30430962

Wei, Y, McCormick, A, MacKenzie, A, O'Ferrall, E, Venance, S, Mah, JK et al.. The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities. Paediatr Child Health. 2018.23 (1)20-26 PMID:29479275

Climans, SA, Piechowicz, C, Koopman, WJ, Venance, SL. Survey of Canadian Myotonic Dystrophy Patients' Access to Computer Technology. Can J Neurol Sci. 2017.44 (5)567-571 PMID:28535832

Jackson-Tarlton, CS, Benstead, TJ, Doucette, S, CNDR INVESTIGATOR NETWORK. Correlating factors in the recommendation of feeding tubes in the nutritional management of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. .17 (7-8)515-521 PMID:27534658

Wei, Y, Speechley, KN, Zou, G, Campbell, C. Factors Associated With Health-Related Quality of Life in Children With Duchenne Muscular Dystrophy. J. Child Neurol. 2016.31 (7)879-86 PMID:26863997

Johnson, NE, Ekstrom, AB, Campbell, C, Hung, M, Adams, HR, Chen, W et al.. Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy. Dev Med Child Neurol. 2016.58 (7)698-705 PMID:26510705

Lochmüller, H, Evans, D, Farwell, W, Finkel, R, Goemans, N, de Lemus, M et al.. Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. J Neuromuscul Dis. 2018.5 (2)131-133 PMID:29865093

Lochmüller, H, Badowska, DM, Thompson, R, Knoers, NV, Aartsma-Rus, A, Gut, I et al.. RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. Eur. J. Hum. Genet. 2018.26 (6)778-785 PMID:29487416

Thompson, R, Robertson, A, Lochmüller, H. Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease. Adv. Exp. Med. Biol. 2017.1031 97-124 PMID:29214567

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