P.396The DM-Scope registry: an innovative framework for myotonic dystrophy translational resarch

Abstract

The relevance of registries as a key component for developing clinical research for rare diseases (RD) has been acknowledged by most stakeholders. However, remaining limitations have been pointed out. We developed the innovative concept of the DM-Scope registry aiming to promote translational research and care management for myotonic dystrophy (DM), a prototypical example of highly heterogeneous RD. Study objectives were (1) to improve data quality and value; (2) to limit the amount of incomplete data; (3) to improve standardization and data comparability. The latter step was addressed by implementing the plateform to Canada, as a proof of concept of transnational collaborative operability. The revised dataset includes social-demographic data, clinical features, genotype, and biomaterial data, and is adjustable for clinical trial data collection. In France, the registry has a nationwide coverage, composed of 55 neuromuscular centres, certified by National plan for RDs, encompassing the whole disease clinical and genetic spectrum. This widely used platform gathers almost 3000 DM patients (DM1 n=2828, DM2 n=142), in both paediatric (n=322) and adults (n=2648) centres, which accounts for >20% of overall registered DM patients internationally. The registry supported 10 research studies of various type i.e. observational and basic science and interventional studies, and dramatically accelerated patient recruitment for clinical trials. The DM-Scope registry represents the largest collection of standardized data for the DM population so far. Our concept improved collaboration among health care professionals by continuously providing tools to monitor cohorts in participating centres. This registry proves to be a powerful device for promoting both research and medical care and is applicable to other countries. In the context of emerging therapies, such integrated platform contributes to the standardisation of DM research and may optimize international multicentre clinical trials.