P.7.9 Current status of dystrophinopathy patient registry in Japan: Remudy

Abstract

We report current status of a national patient registry in Japan: Remudy, Registry of Muscular Dystrophy. Clinical trials for new therapeutic strategies are currently being planned for Duchenne and Becker muscular dystrophies (DMD/BMD); however, many challenges exist in the planning and conduction of a clinical trial for rare diseases. The epidemiological data, the total number of patients, natural history, and clinical outcome measures are mostly unclear. An adequate number of patients is needed to achieve significant results in clinical trials. As solutions to these problems, a patient registry,especially of rare diseases such as DMD/BMD, is an important infrastructure worldwide, Both in and out of Europe, TREAT-NMD, a clinical research network for neuromuscular disorders, has developed a global database for dystrophinopathy patients. We have developed a national registry of Japanese DMD/BMD patients in collaboration with TREAT-NMD. The database includes clinical and molecular genetic data as well as all items required for the TREAT-NMD global patient registry. As of March 2013, 1078 patients were registered in this database. The purpose of this registry is the effective recruitment of eligible patients for clinical trials, and it may also provide timely information to registants about upcoming trials. This registry data also provides more detailed knowledge about natural history, epidemiology, and clinical care. In recent years, drug development has become dramatically globalized, and global clinical trials (GCTs) are being conducted in Japan as well. It is appropriate, particularly with regard to orphan diseases, to include Japanese patients in GCTs to increase evidence for evaluation, because it would be difficult to conduct such large-scale trials solely within one country. GCTs enable the synchronization of clinical drug development in Japan with those in other countries, minimizing drug approval delays.