Inherited Neurophathies Consortium (RDCRC)

描述（由申请人提供）：遗传性神经病变联盟（INC） RDCRC是一个临床研究人员网络，致力于开发评估遗传性周围神经病变（统称为Charcot-Marie-Tooth病（CMT））患者治疗所需的基础设施。最初，INC由六个站点组成。来自肌肉萎缩症协会（MDA）和Charcot Marie Tooth协会（CMTA）的补充资金使我们能够扩展到17个站点。CMT是由bb70基因突变引起的。突变导致显性遗传性脱髓鞘CMT （CMT1）、显性遗传性轴突CMT （CMT2）和隐性遗传性CMT （CMT4）。尽管科学进步了，但目前没有药物可以减缓任何形式的进展。在某种程度上，这是由于缺乏足够的自然历史数据，缺乏敏感的结果测量和缺乏CMT的生物标志物。此外，国际上还没有协调一致的努力来分享患者的临床数据。在INC的初始周期中，我们已经处理了这些领域。我们已经进行了自然历史研究，生成并测试了成人和儿童CMT的结果工具，并开始测试潜在的生物标志物。我们开发了患者报告结果（PRO）仪器。我们作为一个国际组织，在最初的五年周期结束时，我们将招募5000名患者加入我们的方案。我们开发了一个网页，向患者、家属和调查人员提供信息。它还允许我们通过我们的INC联系人注册中心直接与患者互动，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中心组成，这些注册中心使用与INC使用的相同的CMT最小数据集。最后，我们培养了一批年轻的研究人员，他们致力于研究CMT。在我们的第二个周期中，我们提出的目标是扩展我们的自然历史数据，扩展我们的下一代测序数据，识别潜在的生物标志物和结果测量，进行临床试验，并通过这些数据向患者、家属和研究者提供信息

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 >70 genes. 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 such that we will enroll > 5000 patients into our protocols by the end of our initial five year cycle. We have developed a Web Page that provides information to patients, families and investigators. It also has allowed us to directly interact with patients through our INC Contact Registry and have developed the CMT-lnternational 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, and to provide information to patients, families and investigators through our INC Website.