A national spinal muscular atrophy registry for real world evidence

One of NMD4C’s many important initiatives is the development of neuromuscular disease (NMD) patient registries. 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.

NMD4C works closely with the Canadian Neuromuscular Disease Registry (CNDR), a Canada-wide registry of people diagnosed with an NMD. It collects important medical information from patients across the country to improve the understanding of NMD and accelerate the development of new therapies. Over 4500 NMD patients have registered from across Canada since the CNDR’s launch in 2010. With their data, the CNDR has facilitated 35 trials and 75 data inquiries and research projects.

Recently, the CNDR undertook an iterative multi-stakeholder process to expand its spinal muscular atrophy (SMA) dataset to capture items relevant to patient outcomes in the use of the new therapies such as nusinursen (Spinraza). This will serve as a longitudinal, prospective, multi-centre, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials. In the development of this new dataset, the team also aimed to standardize outcome measures across the network and the broader Canadian community, and to align its measures with global datasets to facilitate collaboration. The data collected with this expanded dataset will be essential to inform improvements in care and access to therapy for all SMA patients.

Click here to read more about this project

Many NMD4C investigators and members were on the team involved in expanding the CNDR’s SMA dataset:

NMD4C steering committee involved in the project:

NMD4C investigators involved in the project:

NMD4C collaborators involved in the project:

NMD4C members involved in the project:

  • Nicolas Chrestian
  • Susan Dojeiji
  • Nicolas Dupré
  • Hernan Gonorazky
  • Aaron Izenberg
  • Alier Marerro
  • Anna McCormick
  • Gerald Pfeffer
  • Stephanie Plamondon
  • Xavier Rodrigue
  • Jordan Sheriko
Annotation 2020-07-03 092543

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Applications are now open for the 2026 NMD4C Basic Research Summer School!!!

Application Deadline: January 27, 2026 | We are excited to announce that applications are now open for our third Basic Research Summer School for neuromuscular research trainees! Led by  Dr. Mireille Khacho, the 2026 NMD4C Basic Research Summer School will be held from June 8th to 10th at the University of Ottawa.

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