The Inherited Neuropathy Consortium (INC) RDCRC- Overall

 描述(由申请人提供)：遗传性神经病变联合会(INC)RDCRC是一个临床研究人员网络，致力于开发必要的基础设施，以评估对遗传性周围神经病患者的治疗，统称为夏科-玛丽-图斯病(CMT)。最初，Inc.由六个站点组成。来自肌肉营养不良协会(MDA)和夏科玛丽牙齿协会(CMTA)的补充资金使我们能够扩大到17个地点。CMT是由&gt；80基因突变引起的，在过去的5年里，Inc.网站已经确认了其中15个基因。突变导致显性遗传性脱髓鞘CMT(CMT1)、显性遗传性轴索CMT(CMT2)和隐性遗传性CMT(CMT4)。尽管科学取得了进步，但目前还没有针对任何形式的延缓进展的药物。这在一定程度上是由于缺乏足够的自然历史数据，缺乏敏感的结果衡量标准，以及缺乏CMT的生物标记物。此外，还没有协调一致的国际努力来共享患者的临床数据。 我们在Inc.的最初周期中已经解决了这些领域。我们已经进行了自然历史研究，为患有CMT的成人和儿童生成并测试了结果工具，并开始测试潜在的生物标记物。我们已经开发了患者报告结果(PRO)仪器。我们作为一个国际组织工作，在提交本文件时，已有6500名参与者加入了我们的方案。我们开发了一个网页，为患者、家属和调查人员提供信息。它还允许我们通过我们的INC联系注册表与患者直接互动，并开发了CMT-国际数据库(CMT-ID)，该数据库由来自世界各地的国家注册表组成，这些注册表使用与Inc.使用的相同的CMT最小数据集。最后，我们培训了一批致力于CMT调查事业的年轻调查人员。在我们的第二个周期中，我们建议旨在扩展我们的自然历史数据，扩展我们的下一代测序数据，识别潜在的生物标记物和结果衡量标准，进行临床试验，开始制定CMT患者的护理标准，并通过我们的Inc.网站向患者、家属和研究人员提供信息。

 DESCRIPTION (provided by applicant): The Inherited Neuropathy Consortium (INC) RDCRC is a network of clinical investigators dedicated to developing the infrastructure necessary to evaluate therapies for patients with heritable peripheral neuropathies, collectively known as Charcot-Marie-Tooth disease (CMT). Originally, the INC consisted of six sites. Supplemental funding from the Muscular Dystrophy Association (MDA) and Charcot Marie Tooth Association (CMTA) has allowed us to expand to 17 sites. CMT is caused by mutations in >80 genes, 15 of which have been identified by INC sites over the past 5 years. Mutations cause dominantly inherited demyelinating CMT (CMT1), dominantly inherited axonal CMT (CMT2), and recessively inherited CMT (CMT4). Despite scientific advances there are currently no medications to slow progression for any form. In part this is due to the lack of adequate natural history data, the lack of sensitive outcome measures and the lack of biomarkers for CMT. In addition, there has not been a coordinated international effort to share clinical data on patients. We have addressed these areas during our initial cycle of the INC. We have performed natural history studies, generated and tested outcome instruments for adults and children with CMT, and begun testing potential biomarkers. We have developed patient reported outcome (PRO) instruments. We have worked as an international group that has enrolled > 6500 participants into our protocols at the time of this submission. We have developed a Web Page that provides information to patients, families and investigators. It also has allowed us to directly interact wih patients through our INC Contact Registry and have developed the CMT-International Database (CMT-ID), that consists of national registries from around the world that use the same CMT Minimal Dataset that is used by the INC. Finally, we have trained a number of young investigators who are committed to a career investigating CMT. In our second cycle we propose Aims to extend our natural history data, to extend our Next Generation Sequencing data, to identify potential biomarkers and outcome measures, to perform clinical trials, begin developing Standards of Care for people with CMT and to provide information to patients, families and investigators through our INC Website.