[Establishment of an evaluation method for muscular dystrophy and a patient registration system for clinical trials]

Abstract

About 20 years have passed since the discovery of the causative protein of Duchenne muscular dystrophy, in 1987, and treatments targeting causative factors such as exon skipping, read-through of stop codons, and the upregulation of utrophin are approaching practical levels. In Japan, also, clinical trials are planned as the final stage of treatment development. In this field, an appropriate outcome measure has not been established due to the lack of experience in clinical trials. Treatments for muscular dystrophy are deemed effective only when increases in the muscle mass and muscle strength and improvements in the ADL and QOL as well as biological marker levels at target points have been demonstrated. The Muscular Dystrophy Clinical Study Group has addressed the development of these evaluation methods since 2002. Also, as treatments for muscular dystrophy being developed today are so-called tailor-made treatments aimed at specific mutations, a system that facilitates identification of the type and site of mutation in each individual must be prepared. The Gene Analysis Center was only just established in the National Center of Neurology and Psychiatry in 2009. Also, it is expected to be difficult to secure a sufficient number of subjects to start a clinical trial in a short period. Therefore, the Registry of Muscular Dystrophy (REMUDY), a system for the registration of patients with muscular dystrophy including their clinical and genetic information was implemented. This system, which provides information concerning the number of patients required by the protocol to researchers and pharmaceutical companies and the latest information regarding the development of treatments to patients, is expected to serve as a prototype for the establishment of the basis of clinical trials against rare diseases.