The Neuromuscular Disease Network for Canada

As we enter the new year, we would like to look back at all the incredible work achieved in 2024 and reflect on all the inspiring progress the network has made towards our goals. This year in review outlines a collection of achievements from the network over the past year.

Thank you to our steering committee, our team leads and investigators, patient partners, and our partner organization Muscular Dystrophy Canada who are integral to all our activities!

Pre-Clinical Research

The animal and cell-based research team welcomed Dr Marine Christin as NMD4C’s Pre-Clinical Science coordinator. We hosted the inaugural Basic Research Summer School, where 36 trainees were supported to attend cutting-edge wet lab and bioinformatics technique training and networking with other neuromuscular researchers. Together with MDC, we awarded one postdoctoral fellowship for an early-career scientist to conduct postdoctoral studies in a laboratory focused on research of NMDs. We also honored early-career excellence with NMD4C early-career awards to Dr Mireille Khacho and Dr Jean-Philippe Leduc-Gaudet, showcasing our dedication to advancing basic neuromuscular research. A multi-site biobank registry agreement with standardized data transfer agreements was also drafted to allow all sites to use a common legal agreement towards creation of a national neuromuscular biobank catalogue.

Clinical Research

The clinical trial network team welcomed Dr Maria Masnata as NMD4C’s Clinical Trials and Community Practice Manager, and launched the Clinical Trial Database to offer a comprehensive and regularly updated resource of Canadian neuromuscular clinical trials. We also introduced a quarterly internal clinical trial newsletter to share clinical trial updates and opportunities, support Canadian trial investigators, and enhance collaboration across the clinical research landscape. The Canadian Neuromuscular Disease Registry (CNDR) has been developing new disease datasets for Facioscapulohumeral muscular dystrophy (FSHD), Oculopharyngeal muscular dystrophy (OPMD), and Spinal-Bulbar muscular atrophy (SBMA). Together with MDC and the CSCN, we awarded three clinical fellowships for neurologists to train in neuromuscular medicine and electromyography.

We welcomed our Outcome Measures and Natural History coordinator Zainab Adamji and hosted two SMA Outcome Measures training workshops for physiotherapists (PTs) and occupational therapists (OTs) from across Canada. The team completed a landscape analysis of outcome measures used in clinical trials for FSHD, OPMD, Duchenne muscular dystrophy, Friedreich Ataxia, and Myotonic dystrophy and launched a national survey to understand Canadian healthcare professionals’ familiarity and experience with these outcome measures. Led by Dr Cynthia Gagnon, the PROMOT network: Performing a Rare Disease-Oriented Master Observational Trial to decipher complexity and optimize trial readiness also received from the European Joint Programme for Rare Diseases, with Canadian funding contributed by the Canadian Institutes for Health Research (CIHR) to develop a precision medicine approach integrating ethical, legal, and social considerations for rare diseases.

Clinical Research Practice

The education and curriculum team welcomed training and curriculum coordinator Dr Victoria Larocca and launched the third Annual National Neuromuscular Lecture Series, featuring 33 expert-led lecture topics and 7 debate sessions and journal clubs for neuromuscular fellows across Canada. We hosted and supported fellows to attend in-person clinical fellows’ networking events in conjunction with the Western Canadian Neuromuscular Conference (WCNMC), offering opportunities for networking, case presentations, and attendance at the research symposium. The assessment portfolio for the Area of Focused Competency in Neuromuscular Medicine to the Royal College was completed and submitted. We also celebrated the launch of LEARNMD, our online training platform offering tailored educational resources on neuromuscular topics for Canadian clinicians and researchers.

The network expanded its collaborative efforts this year by completing needs assessments and launching three Communities of Practice (CoPs) in physiatry, PT/OT, and clinical trial research staff. The Physiatrist CoP met bimonthly to discuss case studies, research articles, best practices, and shared experiences. The PT/OT CoP have recently begun holding bimonthly knowledge exchange sessions, while the clinical trial research staff have recently begun meeting quarterly and organizing clinical trial educational sessions.

This year, we celebrated the milestone that all babies born in Canada can now be tested for spinal muscular atrophy through newborn screening! This incredible achievement was achieved through the leadership of MDC and is the result of a three-year project working with each Canadian province and territory. A group of NMD4C investigators also submitted a response to Canada Drug Agency’s Newborn Screening Advisory Panel discussion paper outlining its approach for developing Canadian newborn screening guidance, helping to shape the formation of these national NBS guidelines.

The Burden of Inherited Neuromuscular Diseases (BIND) study led by Dr Jodi Warman Chardon in collaboration with MDC was completed; this study aimed to characterize the social and economic burden in Canada among individuals with genetic and acquired NMDs and their caregivers. The trials into practice team also continued to advocate for data-driven access to novel therapies via clinician input submissions and provide guidance on use of real-world evidence for NMDs.

Annual Meeting at Western Canadian Neuromuscular Conference (WCNMC)

We hosted our Annual NMD4C Meeting on September 27th in Calgary at the WCNMC. Our meeting program consisted of presentations from pillar and task leads which highlighted their groups’ achievements, progress made to date, and plans for 2025.

NMD4C collaborators were also invited to attend, and we explored the potential for future projects with the Canadian Rare Disease Network, RareKids-CAN, and Dr Reshma Amin presented the framework for her CIHR-funded project to establish a framework for real-world evidence for Canadian neuromuscular diseases. The project updates were inspiring to hear, and we are excited to see how our collective efforts will continue to advance our network goals over the coming year. The contributions from the attendees to the discussions and planning have set a strong foundation for the next steps for the year ahead, and we look forward to continuing this momentum.

Thank You

Thank you to everyone who has been involved in any of the network’s initiatives in 2024; the network would truly not be where it is today without all the hard work of its members – we are excited and grateful to have the opportunity to continue working towards the network’s goals in 2025.

If you have any questions about any of our work, please contact network manager Dr Erin Beattie at .