G.P.258: National registry of Japanese dystrophinopathy patients: Remudy

Abstract

We established a National registry of Japanese dystrophinopathy patients in 2009 as a part of the Registry of Muscular Dystrophy (Remudy) through the collaboration with TREAT-NMD. The database includes clinical and molecular genetic data, those were required for TREAT-NMD global patients registry. Remudy is available and beneficial mainly in two ways: 1. Assisting clinical trials: In recent years, drug development has become dramatically globalized, and a part of global clinical trials (CTs) as well as original domestic CTs have been conducted in Japan. Remudy has already supplied the accumulated data for 11 feasibility studies in response to requests by either TREAT-NMD or pharmaceutical companies. We also provided the information of on-going CTs to the registrants, and sent out detailed information on the CTs to the candidates in time to successfully accelerate their recruitment. 2. Benefits as the data for natural histories: We have already shown the long-term effect of steroid therapy on DMD in Japan, as a result of a large-scale cross-sectional observational study on 540 patients. We have further carried the CARE-NMD survey in Japan, a result of collaboration with the International CARE-NMD survey on DMD patients and families, which was carried out to provide a clearer picture of the state of care, life, and social support in Japan. Moreover, we analyzed body-weights of 615 DMD patients based on the registry data and compared with normal growth charts, and discussed its potential benefits on patient nutrition as well as the administration planning for future CTs. The patient registry is an essential infrastructure, successfully accelerating clinical research in the neuromuscular disease field, and should be put into practice across the whole rare disease field.