Resources Core

强直性肌营养不良（DM）和面肩肱型肌营养不良（FSHD）具有多系统的 严重的、进行性的、经常致残的并发症。在了解这些问题方面的最新进展 糖尿病的发病机制指导了实验疗法的发展。现在有新的紧迫性， 增强促进当前和未来临床试验所需的翻译资源。帮助 为了实现这些目标，我们建议维持和加强最古老和最全面的 强直性肌营养不良1型（DM1）、2型（DM2）和FSHD患者的登记研究。的主要目标 登记处是为了协助研究人员招募病人进行临床研究和试验， 广泛的纵向病人信息数据库，并促进社区与病人的联系， 家庭成员，以提高认识，沟通，并参与研究过程。同时， 帮助研究人员了解什么对患者最重要。总的来说，书记官处有效运作， 但我们建议作出若干修改，使其今后更加有效。首先，我们将开始 将基因诊断纳入登记参与的过程，目的是提供基因诊断， 确认目前没有的FSHD患者（大约一半的FSHD登记成员）。 第二，我们将建立在线数据收集能力，使用保护患者的方法， 保密第三，我们将与登记册的一些参与者建立远程医疗联系， 远距离数据采集。这将扩大任何地方的患者参与研究的机会， 改进登记册数据的质量和范围。作为推论，我们将检查收集的数据的有效性 通过远程医疗研究访问。我们共享资源核心的另一个目标是改善对关键模型的访问 DM1和DM2，通过分发可用于临床前药物开发的小鼠模型， 最大限度地缩短药物发现实验的准备时间。总体而言，共享资源核心 将服务于我们中心研究人员的需求，我们中心是研究常染色体的更大的研究人员社区， 肌肉萎缩症的主要形式，以及患有这些疾病的患者和家庭。

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) have multisystem complications that are serious, progressive, and often disabling. Recent advances in understanding the mechanisms of DM have guided the development of experimental therapies. There is now renewed urgency to enhance the translational resources that are needed to facilitate current and future clinical trials. To help achieve these goals, we propose to sustain and enhance the resources of the oldest and most comprehensive Registry for patients with myotonic dystrophy type 1 (DM1), type 2 (DM2), and FSHD. The main goals of the Registry are to assist researchers in the recruitment of patients for clinical studies and trials, to develop an extensive database of longitudinal patient information, and to promote community outreach with patients and family members to increase awareness, communication, and participation in the research process. In parallel, to help researchers understand what matters most to patients. Overall, the Registry has functioned effectively up to now, but we are proposing several changes to make it more effective in the future. First, we will begin the process of incorporating genetic diagnosis into Registry participation, with the goal of providing genetic confirmation for FSHD patients who do not presently have it (approximately half of FSHD Registry members). Second, we will establish capability for online data collection, using methods that protect patient confidentiality. Third, we will establish telemedicine links with a group of Registry participants, for targeted data collection at a distance. This will expand opportunities for patients anywhere to take part in studies, and improve the quality and scope of data in the Registry. As a corollary, we will examine validity of data collected through telemedicine study visits. Another goal of our Shared Resource Core is to improve access to key models of DM1 and DM2, through distribution of mouse models that are useful for preclinical drug development, in a way that minimizes lead-time for performing drug-discovery experiments. Overall, the Shared Resource Core will be serve the needs of researchers in our Center, the larger community of investigators who study autosomal dominant forms of muscular dystrophy, and the patients and families who live with these disorders.