Nakamura Harumasa, Kawai Mitsuru
Department of Neurology, National Center Hospital of Neurology and Psychiatry.
Rinsho Shinkeigaku. 2011 Nov;51(11):901-2. doi: 10.5692/clinicalneurol.51.901.
The development of orphan medicines presents many challenges. Clinical trials with new therapeutic strategies are now being planned and conducted for many orphan diseases such as Duchenne and Becker muscular dystrophy (DMD/BMD). However, since adequate numbers of patients are needed to achieve significant results for clinical trials, patient registries are an important infrastructure worldwide, especially in the case of rare diseases. We developed a national registry of Japanese DMD/BMD patients in collaboration with European research network, TREAT-NMD. Japanese registry adopts a self-report system and this database includes clinical data and molecular genetic data. The main purpose of this registry is the effective recruitment of eligible patients for a clinical trial and may provide timely information to individual patients. The registry data gives us more detailed knowledge of natural history, epidemiology, and clinical care. This registry will gain trial readiness in Japan and accelerate more effectively harmonization with other countries to fight orphan diseases.
罕见病药物的研发面临诸多挑战。目前正在针对许多罕见病，如杜氏和贝克型肌营养不良症（DMD/BMD），规划并开展采用新治疗策略的临床试验。然而，由于临床试验需要足够数量的患者才能取得显著结果，患者登记系统在全球范围内都是一项重要的基础设施，对于罕见病而言尤为如此。我们与欧洲研究网络TREAT-NMD合作，建立了一个日本DMD/BMD患者的全国登记系统。日本登记系统采用自我报告制度，该数据库包含临床数据和分子遗传学数据。这个登记系统的主要目的是有效地招募符合条件的患者参加临床试验，并可能为个体患者提供及时的信息。登记系统的数据让我们对疾病的自然史、流行病学和临床护理有了更详细的了解。这个登记系统将使日本做好试验准备，并更有效地加速与其他国家协调合作，以对抗罕见病。
