Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan.

当院を受診し1977～2010年に死亡したDuchenne muscular dystrophy患者の死因を分析した．1984年に開始した呼吸管理や，1990年代以降の心保護治療をふくむ積極的加療の結果，平均死亡年令は1984年以前の18.9歳が2004年以降は31.1歳に延長し，さらなる延命が予測される．呼吸管理の長期化や在宅人工呼吸療法患者の増加から，二次性肺障害予防とリスクマネジメントが重要になっている．約半数を占めていた呼吸不全死は激減し，心不全が主要死因となった．心保護治療の進歩で拡張型心筋症によるうっ血性心不全が減少したが，循環不全による腎不全が出現しており，心腎連関への配慮が重要である．

Duchenne muscular dystrophy 患者の経時的死因分析

To elucidate changes in medical treatment for Duchenne muscular dystrophy (DMD) in Japan, we analyzed the clinical courses and causes of death of inpatients with DMD registered in the muscular dystrophy ward database of 27 hospitals in Japan specializing in muscular dystrophy treatment since 1999. The total number of hospitalized cases in 1999 was 873, which gradually reduced to 733 in 2012. The mean age of DMD patients in 1999 was 23.6 years old, while that was 30.1 years old in 2012, with patients 40 years and older accounting for 94 cases in the latest year. The respirator dependent rate gradually increased from 58.6% in 1999 to 86.1% in 2012. Artificial respiration therapy was introduced earlier in more recent years and the mean age in recent years was shown to be 17.2 years old. The oral nutritional supply rate in 1999 was 95.1%, which fell to 66.8% in 2012, while gastrostomy feeding gradually increased to 129 cases in 2012. The rate of clinical diagnosis of DMD was 52.3% in 1999 and decreased to 43.7% in 2012, which showed progress towards more accurate diagnosis of DMD. From 2000 to 2012, 521 deaths were reported, with approximately half of the causes heart related, followed by respiratory related. The mean age of death gradually increased to 32.4 years old in 2012 from 26.7 years old in 2000. The mean age of survival of all DMD patients was 37.5 years old. Progress in multidisciplinary medical care for respiratory failure, cardiomyopathy, nutritional problems, and other related factors has extended the lifespan of DMD patients.

https://www.jstage.jst.go.jp/article/clinicalneurol/54/10/54_783/_pdf

国内筋ジストロフィー専門入院施設におけるDuchenne型筋ジストロフィーの病状と死因の経年変化（1999年～2012年）

We report two 45 year old men with Duchenne muscular dystrophy. Case 1 showed a deleted exon 50 of the dystrophin gene by MLPA analysis, and Case 2 showed deleted exons 46-52. Both patients presented with severe weakness of the skeletal muscles and respiratory dysfunction, while cardiac involvement was mild and cognitive function was almost normal. The patients are able to shop at a mall, participate in activities, and attend hobbies, although they are bedridden with artificial respiration through tracheotomy. With the progress of the respiratory care and cardiac protective therapy, the prognosis of Duchenne muscular dystrophy has improved remarkably. At present, it is possible to survive over 40 years with maintenance of quality of life, if cardiac damage is not severe.

Two cases of Duchenne muscular dystrophy over 40 years after onset

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.

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network

https://cdn.intechopen.com/pdfs/36737/InTech-Database_of_wards_for_patients_with_muscular_dystrophy_in_japan.pdf

P4.40 Database of wards for patients with muscular dystrophy in Japan

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P4.40 Database of wards for patients with muscular dystrophy in Japan