Project Overview

Neuromuscular diseases (NMDs) are rare conditions that affect nerves and muscles. These diseases can be complex and require significant healthcare resources, but because they are rare, there are many knowledge gaps that can impact patient care.

Recently, the NMD treatment landscape has changed with the introduction of new, expensive therapies that can modify the course of these diseases. In Canada, for example, there are new therapies available for previously untreatable conditions like spinal muscular atrophy and amyotrophic lateral sclerosis. However, access to these treatments varies across provinces, and some patients may not be able to receive them due to gaps in evidence from clinical trials.

The Canadian Neuromuscular Disease Registry (CNDR) was created in 2010. CNDR’s platform collects data from clinics across the country, helping to support research and track the effectiveness of treatments for NMDs. It now includes 44 clinics, 136 researchers, and data from over 5,800 patients. CNDR’s extensive network and standardized data collection make it a valuable resource for advancing research in neuromuscular diseases.

Fascioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies with, but currently there is no national patient registry. With this proposed work, CNDR will expand its platform by launching a national registry for FSHD to support new research and prepare for the arrival of many innovative therapies in development.

CNDR will integrate remotely collected patient-reported outcome measures (PROMs) into its registries so that disease severity and quality of life can be more frequently captured between clinic visits or in participants that do not attend sub-specialty clinics. This will improve understanding of the lived experience of people with NMDs and add depth to CNDR data across all diseases.

Principal Investigator

Lawrence Korngut , University of Calgary

Team Members

Victoria Hodgkinson, University of Calgary

Megan Crone, University of Calgary

Gordon Jewett, University of Calgary

Partners and Donors

FSHD Canada Foundation