The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

Abstract

We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscular disease. Diagnosis and contact information are collected across all diseases and detailed prospective data is collected for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM), Limb Girdle Muscular Dystrophy (LGMD), and Spinal Muscular Atrophy (SMA). Since 2010, the CNDR has registered 4306 patients (1154 pediatric and 3148 adult) with 91 different neuromuscular diagnoses and has facilitated 125 projects (73 academic, 3 not-for-profit, 3 government, and 46 commercial) using registry data. In conclusion, the CNDR is an effective and productive pan-neuromuscular registry that has successfully facilitated a substantial number of studies over the past 10 years.

Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry

“…Perhaps the most extensive of these would be the TREAT-NMD DMD Global Registry [11] and the Leiden Open Variation Database (LOVD) [12,13], each having data from more than 7000 dystrophinopathy patients across the world. Canada in particular has the Canadian Neuromuscular Disease Registry (CNDR), a national patient registry established in 2011 that also contributes to the TREAT-NMD database [14,15]. As of 1 December 2019, with 4310 registrants, dystrophinopathy patients make up the second-largest disease group in the CNDR at 13.3% [15].…”

“…Canada in particular has the Canadian Neuromuscular Disease Registry (CNDR), a national patient registry established in 2011 that also contributes to the TREAT-NMD database [14,15]. As of 1 December 2019, with 4310 registrants, dystrophinopathy patients make up the second-largest disease group in the CNDR at 13.3% [15]. Amyotrophic lateral sclerosis has the most number of registered patients at 36.1%; myotonic dystrophy, limb-girdle muscular dystrophy, and spinal muscular atrophy patients make up 10.5%, 5.9%, and 5.3% of CNDR registrants, respectively.…”

A Descriptive Review of Global Real World Evidence Efforts to Advance Drug Discovery and Clinical Development in Amyotrophic Lateral Sclerosis

“…The Canadian Neuromuscular Disease Registry (CNDR) is a population-based registry established in 2011 to connect adult and pediatric Canadians living with a neuromuscular disease with national and international research opportunities 4 . The CNDR collects data from patients on over 140 different neuromuscular diseases, including ALS, across 10 academic institutions and 28 clinics, including 10 multidisciplinary ALS clinics.…”

“…ALS research, as in other rare disease research, benefits from collaboration between centers, regions and countries ( 4 ). Rare disease registries and collaborative platforms such as those developed in ALS collect real world data (RWD) in standardized formats.…”

Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders

“…From our experience in rare and neuromuscular disease registries, successful public–private partnership models have been constructed in different ways. Ideally, these models should facilitate research at different stages of drug development and application, be flexible enough to adopt new research questions and new contributors, and have a long-term sustainability plan [ 6 – 8 ].…”