Grant: Team Grant: E-Rare Joint Transnational Call

The PROMOT network aims to develop an innovative precision medicine approach to answering the complex challenges regarding prognosis and clinical trial readiness in rare diseases: A Learning and knowledge mobilization platform (LEAP FOWARD) based on the adapted Master Observational Trial (MOT). This will be achieved through four main steps: 1) To develop a MOT approach using oculopharyngeal muscular dystrophy (OPMD) as a flagship disease; 2) to conduct a pilot MOT among five neuromuscular disorders with strong commonalities (OPMD, myofibrillar myopathies, congenital myopathies, congenital myasthenia, and RyR1 central myopathies); 3) to document the feasibility of conducting a MOT approach in these vulnerable populations and across different legislations; and 4) to develop the LEAP FOWARD platform including an interface for patients and healthcare professionals. The Phase 1 will consist to identify and classify the signs and symptoms specific and common to the five targeted neuromuscular diseases and relevant for inclusion in the MOT protocol and LEAP FORWARD platform. Also, the PROMOT network will take advantage of the ongoing natural history study in OPMD (n=110) actually conducted in Canada to use the clinical and genetics data generated by this project as a proof of concept to support the development of the MOT protocol. In Phase 2, the MOT will be tested among the five neuromuscular diseases stated above to document the feasibility of using this type of approach in rare diseases. Finally, all the data generated in this project will serve to develop the LEAP FOWARD platform, and all these steps will be conducted in collaboration with patient organizations, patient partners, clinicians, researchers, and legal experts.