Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).
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DOI：
10.1186/1750-1172-8-60
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发表时间：
2013-04-19
影响因子：
3.7
通讯作者：
Kawai M
中科院分区：
文献类型：
--
作者：
Nakamura H;Kimura E;Mori-Yoshimura M;Komaki H;Matsuda Y;Goto K;Hayashi YK;Nishino I;Takeda S;Kawai M
目前，正在计划对杜氏和贝克肌营养不良症（DMD/BMD）进行新治疗策略的临床试验。然而，在临床试验中很难获得足够数量的患者。作为这些问题的解决方案，患者登记是全球范围内的重要资源，特别是在罕见疾病，如DMD/BMD。我们开发了一个国家注册的日本DMD/BMD患者与NMD合作。该登记研究包括遗传状态已通过遗传分析确认的日本男性DMD/BMD患者。该登记研究包括日本各地的患者。截至2012年2月，共登记了583名DMD患者和105名BMD患者。大多数人年龄不到20岁。在DMD和BMD注册者的基因突变方面，外显子缺失最常见（61.4%和79.0%），其次是点突变（24.5%和14.3%）和重复（13.6%和4.8%）。43.6%的DMD患者能够行走，76.2%的BMD登记者能够行走。数据库中41.1%的DMD注册者使用类固醇治疗。29.5%的DMD和23.8%的BMD登记者至少开过一种心脏药物。22%的DMD患者使用呼吸机支持，无创支持常见。少数DMD和BMD登记者，仅占3.9%和1.0%，接受了脊柱侧凸手术。57例（9.8%）患者有资格参加集中于“跳跃”外显子51的临床试验。Remudy已经在临床研究和DMD/BMD患者护理标准化中证明了实用性。这一新的DMD/BMD患者登记促进了日本临床药物开发与其他国家的同步。
Currently, clinical trials for new therapeutic strategies are being planned for Duchenne and Becker muscular dystrophies (DMD/BMD). However, it is difficult to obtain adequate numbers of patients in clinical trials. As solutions to these problems, patient registries are an important resource worldwide, especially in rare diseases such as DMD/BMD. We developed a national registry of Japanese DMD/BMD patients in collaboration with TREAT-NMD. The registry includes male Japanese DMD/BMD patients whose genetic status has been confirmed by genetic analysis. The registry includes patients throughout Japan. As of February 2012, 583 DMD and 105 BMD patients were registered. Most individuals aged less than 20 years. In terms of genetic mutations of registrants of DMD and BMD, deletion of exons was the most frequent (61.4% and 79.0%) followed by point mutations (24.5% and 14.3%) and duplications (13.6% and 4.8%), respectively. 43.6% of DMD are capable of walking, and 76.2% of BMD registrants are able to walk. 41.1% of DMD registrants in the database were treated using steroids. 29.5% of DMD and 23.8% of BMD registrants were prescribed one cardiac medicine at least. 22% of DMD used ventilator support, and non-invasive support was common. Small numbers of DMD and BMD registrants, only 3.9% and 1.0% of them, have received scoliosis surgery. 57 (9.8%) patients were eligible to clinical trial focused on ‘skipping’ exon 51. The Remudy has already demonstrated utility in clinical researches and standardization of patients care for DMD/BMD. This new DMD/BMD patient registry facilitates the synchronization of clinical drug development in Japan with that in other countries.
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影响因子：
2.8
作者：
Ishikawa, Yuka;Miura, Toshihiko;Minami, Ryoji
通讯作者：
Minami, Ryoji
影响因子：
158.5
作者：
Goemans, Nathalie M.;Tulinius, Mar;van Deutekom, Judith C.
通讯作者：
van Deutekom, Judith C.
影响因子：
3.5
作者：
Takeshima, Yasuhiro;Yagi, Mariko;Matsuo, Masafumi
通讯作者：
Matsuo, Masafumi
影响因子：
158.5
作者：
van Deutekom, Judith C.;Janson, Anneke A.;van Ommen, Gert-Jan B.
通讯作者：
van Ommen, Gert-Jan B.
影响因子：
64.8
作者：
Welch, Ellen M.;Barton, Elisabeth R.;Sweeney, H. Lee
通讯作者：
Sweeney, H. Lee