title: Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.
abstract: Duchenne muscular dystrophy (DMD) is the most commonly inherited neuromuscular disease. Therapeutic agents for the treatment of rare disease, namely "orphan drugs", have recently drawn the attention of researchers and pharmaceutical companies. To ensure the successful conduction of clinical trials to evaluate novel treatments for patients with rare diseases, an appropriate infrastructure is needed. One of the effective solutions for the lack of infrastructure is to establish a network of rare diseases.
  
  
  
  To accomplish the conduction of clinical trials in Japan, the Muscular dystrophy clinical trial network (MDCTN) was established by the clinical research group for muscular dystrophy, including the National Center of Neurology and Psychiatry, as well as national and university hospitals, all which have a long-standing history of research cooperation.
  
  
  
  Thirty-one medical institutions (17 national hospital organizations, 10 university hospitals, 1 national center, 2 public hospitals, and 1 private hospital) belong to this network and collaborate to facilitate clinical trials. The Care and Treatment Site Registry (CTSR) calculates and reports the proportion of patients with neuromuscular diseases in the cooperating sites. In total, there are 5,589 patients with neuromuscular diseases in Japan and the proportion of patients with each disease is as follows: DMD, 29 %; myotonic dystrophy type 1, 23 %; limb girdle muscular dystrophy, 11 %; Becker muscular dystrophy, 10 %. We work jointly to share updated health care information and standardized evaluations of clinical outcomes as well. The collaboration with the patient registry (CTSR), allows the MDCTN to recruit DMD participants with specific mutations and conditions, in a remarkably short period of time.
  
  
  
  Counting with a network that operates at a national level is important to address the corresponding national issues. Thus, our network will be able to contribute with international research activity, which can lead to an improvement of neuromuscular disease treatment in Japan.
authors.affiliation: Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Reiko
authors.initials: R
authors.lastname: Shimizu
authors.affiliation: Institute of Clinical Research, National Hospital Organization Higashi-Saitama Hospital, Saitama, Japan.
authors.forename: Katsuhisa
authors.initials: K
authors.lastname: Ogata
authors.affiliation: Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.|Department of Clinical Research Promotion, Center hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Akemi
authors.initials: A
authors.lastname: Tamaura
authors.affiliation: Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: En
authors.initials: E
authors.lastname: Kimura
authors.affiliation: Department of Clinical Research Promotion, Center hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Maki
authors.initials: M
authors.lastname: Ohata
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Eri
authors.initials: E
authors.lastname: Takeshita
authors.affiliation: Department of Clinical Research Promotion, Center hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Harumasa
authors.initials: H
authors.lastname: Nakamura
authors.affiliation: Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
authors.forename: Shin'ichi
authors.initials: S
authors.lastname: Takeda
authors.affiliation: Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan. komakih@ncnp.go.jp.|Department of Clinical Research Promotion, Center hospital, National Center of Neurology and Psychiatry, Tokyo, Japan. komakih@ncnp.go.jp.|Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan. komakih@ncnp.go.jp.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
mesh_terms: D035843:Biomedical Research / Q000458:organization & administration*; D002986:Clinical Trials as Topic / Q000458:organization & administration*; D003299:Cooperative Behavior; D006761:Hospitals; D006801:Humans; D007564:Japan; D008297:Male; D009136:Muscular Dystrophies / Q000188:drug therapy*; D009965:Orphan Drug Production; D018579:Patient Selection; D035583:Rare Diseases / Q000188:drug therapy*; D012042:Registries
keywords: Clinical trial network; Muscular dystrophy; Muscular dystrophy clinical trial network (MDCTN); Neuromuscular diseases; Orphan drugs; Rare diseases; Registry of Muscular Dystrophy (Remudy)