P.102 - Registry of congenital neuromuscular disorders in Japan: establishment and implementation

Abstract

Congenital neuromuscular disorders are rare, making clinical studies and recruitment of patients for clinical trials difficult. To facilitate research, we established a Japanese registry of congenital neuromuscular disorders. The registry included patients with congenital neuromuscular disorder whose clinical presentation was consistent with the known pathology, genetic diagnosis, or clinical diagnosis. Patients with dystrophinopathy, myotonic dystrophy, Fukuyama-type congenital muscular dystrophy, or spinal muscular atrophy were excluded because separate registries are available for these disorders. Patients to be included in this registry should have undergone genetic diagnosis and at least one muscular pathological examination. However, patients with only a clinical diagnosis were also included in the registry. To assure the accuracy of diagnosis prior to registration, patients were stratified into 3 levels: 1) diagnostic category A (definitive diagnosis based on neuromuscular pathological examination after muscle biopsy and/or identification of the responsible gene by genetic analysis, without any discrepancy from the known clinical course); 2) category B (no discrepancy from the known clinical symptoms or test findings but failure to identify the cause with muscle biopsy or genetic analysis); and 3) category C (patients who had not undergone diagnostic or genetic analysis based on muscle biopsy, but were clinically diagnosed by experts as not contradicting the known clinical symptoms or test findings of the disease). The registry was established in September 2016. To date, 13 patients have been registered, including 3 with muscular dystrophy, 7 with congenital myopathy, 1 with congenital myasthenia, and 2 with myofibrillar myopathy. This registry should stimulate research on congenital neuromuscular disorders. An important task of this registry will be rapid dissemination of data/materials on clinical trials, treatment, and education.