Inherited Neurophathies Consortium (RDCRC)

Charcot Marie Tooth(CMT)是遗传性周围神经病的代名词。这些是 在最常见的遗传性神经肌肉疾病中，大约每2500人中就有一人受到影响。 30多个基因的突变会导致CMT，另外40多个基因的基因座已经被 已确认身份。CMT可分为三种特殊类型：(1)CMT1，主要为遗传性脱髓鞘 神经病变；(2)CMT2，主要遗传性轴索神经病；(3)CMT4，隐性遗传 神经病。对于许多形式的CMT，存在基因上真实的动物模型，并提供了数据 令人信服的目前正在进行的针对CMT1 A的人体临床试验尽管取得了这些进展，但没有 任何形式的CMT都有有效的治疗方法，自然病史数据只适用于大多数 常见类型(CMT1A和CMT1X)，以及许多潜在的基因型-表型相关性仍然存在 未知。为了解决这些问题，我们创建了遗传性神经病联合会(HNC)，一个 汇集了在CMT方面具有公认专长的临床研究人员。HNC内的站点包括韦恩 国立大学、伦敦国立神经病学/神经外科医院、伦敦大学 罗切斯特/肌肉研究小组(MSG)，宾夕法尼亚大学/费城儿童医院 (CHOP)和佛罗里达迈阿密大学。将开展两个试点项目。久拉·阿萨迪博士来自 威斯康星州立大学将为CMT患者开发一个儿科评分系统，由来自伦敦的蒙托尼博士和Dr。 排骨的芬克尔。Scherer博士将为患者和研究人员开发一个模仿OMIM的网站 对CMT感兴趣。将实施两个临床研究项目。来自威斯康星州立大学的Shy博士将进行一项 CMT1B、CMT2A和CMT4A的自然历史分析。来自迈阿密的祖克纳博士和万斯将表演一场 寻找各种形式的CMT的修饰基因。来自伦敦的玛丽·赖利博士将领导一个培训项目 对于博士后研究员和初级教职员工来说，这将涉及包括味精在内的所有站点。Dr。 来自罗切斯特的麦克德莫特将担任HNC生物统计学家。夏科特玛丽牙齿协会(CMTA)， 英国CMT(CMTUK)和Treat-NMD组织将与HNC广泛互动。

Charcot Marie Tooth disease (CMT) is the eponym for heritable peripheral neuropathy. These are among the most common inherited neuromuscular diseases, affecting approximately 1 in 2500 people. Mutations in more than 30 genes cause CMT, and loci for more than 40 additional genes have been identified. CMT is separable into three specific groups: (1) CMT1, dominantly inherited demyelinating neuropathies; (2) CMT2, dominantly inherited axonal neuropathies; and (3) CMT4, recessively inherited neuropathies. Genetically authentic animal models exist for many forms of CMT, and have provided the data compelling the clinical trials in humans that are currently underway for CMT1 A. Despite these advances, no effective therapies are available for any form of CMT, natural history data are available for only the most common types (CMT1A and CMT1X), and many potential genotype-phenotype correlations remain unknown. To address these issues, we have created the Hereditary Neuropathy Consortium (HNC), a collection of clinical researchers with demonstrated expertise in CMT. Sites within the HNC include Wayne State University, the National Hospital for Neurology/Neurosurgery in London, the University of Rochester/Muscle Study Group (MSG), the University of Pennsylvania/Children's Hospital of Philadelphia (CHOP), and the University of Miami, Florida. Two Pilot Projects will be performed. Dr. Gyula Acsadi from WSU will develop a Pediatric Scoring System for CMT patients, aided by Dr. Muntoni from London and Dr. Finkel from CHOP. Dr. Scherer will develop a Website patterned after OMIM for patients and researchers interested in CMT. Two Clinical Research Projects will be performed. Dr. Shy, from WSU, will undertake a natural history analysis of CMT1B, CMT2A, and CMT4A. Drs Zuchner and Vance, from Miami, will perform a search for modifier genes in various forms of CMT. Dr. Mary Reilly from London will lead a training program for postdoctoral fellows and junior faculty members that will involve all sites including the MSG. Dr. McDermott, from Rochester, will be the HNC Biostatistician. The Charcot Marie Tooth Association (CMTA), CMT United Kingdom (CMTUK) and TREAT-NMD organizations will interact extensively with the HNC.