Leads: Craig Campbell, Lawrence Korngut
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.
In Canada, the Canadian Neuromuscular Disease Registry (CNDR) and its network of site investigators and research coordinators has become an ideal model for rare NMD registries globally. The registry has recruited 4,000 patients with various NMDs since its launch in 2010. It has facilitated 35 trials and 75 additional data inquiries and research projects.
Through the resources of NMD4C, FAIR data principles (Findable, Accessible, Interoperable, Reusable) will be incorporated into CNDR functions in order to make the data more amenable to research queries. The registry will be further developed by updating existing disease modules to ensure they capture the information useful for the diseases in question and by adding new disease modules for congenital myasthenic syndrome and congenital myopathies. The registry will continue to support academic and industry-led research including quality-of-life, burden of illness and preference studies. Working with MDC, we will determine the feasibility of developing a patient portal that allows patients to self-report their data.
- Updated existing CNDR disease datasets
- Plan for FAIRification of datasets
- New disease datasets*
- External research projects supported through CNDR*
- Feasibility study for patient portal for CNDR*
*demonstration project to be supported by separate funding