NMD4C

We are excited to announce a successful grant application from NMD4C steering committee members Dr Cynthia Gagnon (lead investigator), Dr Hanns Lochmüller, and Dr Homira Osman for the PROMOT network: Performing a Rare Disease-Oriented Master Observational Trial to decipher complexity and optimize trial readiness. Funded by the European Joint Programme for Rare Diseases (EJP-RD), with Canadian funding contributed by the Canadian Institutes for Health Research (CIHR), the PROMOT network is a joint international collaboration involving sites across Canada, Sweden, Spain, France, Switzerland and Ireland, with a total funding amount of approximately $2 million over a 3-year period.

The PROMOT network project aims to develop a precision medicine approach that is adaptable to several rare diseases, including NMDs. Presently, a precision medicine approach requires an individual natural history study for each rare disease, with high financial and research costs associated with each study. The network’s approach will consolidate several rare NMDs into a single multi-faceted natural history study, allowing a greater number of NMDs to be studied concurrently to reduce cost-associated barriers while producing cross-validated outcome measures and improving the time to clinical trial readiness.

Combining an innovative natural history study design, adapted Master Observational Trial (MOT), and artificial intelligence (AI), the PROMOT network will respond to several unmet needs found in most rare NMDs, including prognosis and clinical trial readiness with the goals of identifying potential biomarkers amenable to treatments and providing protocols for use in clinical trials.

The PROMOT network will first develop the MOT for Oculopharyngeal Muscular Dystrophy (OPMD) alongside three neuromuscular disorders (NMDs) with shared commonalities: myofibrillar myopathies, congenital myopathies, congenital myasthenia. The MOT will then be tested in neuromuscular clinics located in Canada and internationally to document the feasibility of using this approach in rare diseases under different global health systems. To foster knowledge mobilization, the PROMOT network will create a learning and mobilization platform (LEAP FORWARD) with MDC to host clinical, physiological and behavioral outcomes data to allow insight into disease impact, which will include an interface accessible by patients and healthcare professionals.

From a neuromuscular patient and family perspective, time is one of the most important factors in disease progression; this transdisciplinary and intersectoral research project will accelerate the time to receiving a prognosis and clinical trial readiness in four NMDs. By breaking research silos within and across rare diseases, the PROMOT network’s innovative approach has the potential to reduce these delay times for patients across many more rare diseases in the future.