Outcome Measures and Natural History

The progression of many neuromuscular disorders (NMDs) remains poorly understood, and validated outcome measures are limited. To improve diagnosis, monitor disease progression, and evaluate treatment response, NMD4C is building a national framework to standardize outcome assessments, conduct natural history studies, and integrate patient-reported and imaging data. This work will support clinical trials, real-world evidence generation, and improved care for individuals living with NMDs.

Mission

To advance the understanding and management of NMDs in Canada through the development of validated outcome measures, natural history studies, and diagnostic tools that integrate clinical, imaging, and patient-reported data.

Objectives

Outcome Measure Training

To support standardized data collection and build national capacity, NMD4C and MDC organized two in-person training workshops focused on spinal muscular atrophy (SMA) outcome measures. These sessions brought together clinicians and evaluators from across Canada to align on best practices and strengthen consistency in outcome data collection.

Building on the success of these workshops, NMD4C and MDC developed a more sustainable and scalable approach through the creation of online training modules. The Spinal Muscular Atrophy (SMA) and Friedreich Ataxia (FA)  Outcome Measure Training Modules are now available through a national e-learning platform and are designed for clinicians and researchers involved in SMA care and research.

Additional modules are also in development as part of our commitment to expanding training across neuromuscular diseases.