REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD: P.348 NMD4C: A new neuromuscular disease network for Canada

Abstract

Approximately 64,000 pediatric and adult patients are affected by neuromuscular diseases (NMDs) in Canada. Mutation in more than 545 genes have been associated with NMDs. Diagnosis is often delayed due to unequal access to genetic testing across the provinces and many clinicians are poorly trained to interpret the results. Additionally, standard of care guidelines are not implemented equally across the country and access to approved therapies varies. There are many promising therapies under development for NMDs but Canadian sites are not often chosen given the inefficiencies in initiating and recruiting for clinical trials. NMD4C was created to provide a comprehensive and sustainable infrastructure with the mission to improve the care, research and treatment of NMDs. NMD4C will accomplish this mission through 4 goals 1) Formalize and sustain a network of NMD stakeholders 2) Train and educate the next generation of NMD stakeholders 3) Raise the standard of care for NMDs and access to therapies across Canada 4) Strengthen biomedical and clinical infrastructure to build research capacity in Canada. NMD4C was launched in January 2020. Working groups for each goal with a detailed 3-year work plan have been created. Formation of the network will leverage the existing Canadian NMD and international networks, registries and resources. Educational and training resources will be developed including genomics modules, virtual NMD rounds and educational summits. Standard of care guidelines will be reviewed and updated and translated for patients. Strategies to implement across Canada will be determined. The Canadian NMD registry (CNDR) will be strengthened, a central biobank will be created, and a unified plan for clinical trial coordination will be established. NMD4C addresses a major need in the Canadian health care system and will greatly improve the care of NMD patients in Canada. Additionally, it may provide a framework for adoption internationally.