Resources Core

资源核心

• 批准号: 10237266
• 负责人: RABI TAWIL
• 金额: $ 22.03万
• 依托单位: UNIVERSITY OF ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-09-30 至 2023-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10237266
• 关键词: Advocacy; Area; Awareness; Caregivers; Clinical Research; Clinical Trials; Communication; Communities; Community Health Education; Community Outreach; Confidentiality of Patient Information; Data; Data Collection; Data Reporting; Development; Disease; Enrollment; Evaluation; Face; Facioscapulohumeral Muscular Dystrophy; Family; Family member; Future; Genetic; Goals; Gold; Grant; Growth; Improve Access; Individual; Inherited; International; Investigational Therapies; Lead; Link; Methodology; Methods; Modeling; Muscular Dystrophies; Mutation; Myotonic Dystrophy; Myotonic dystrophy type 1; Myotonic dystrophy type 2; Online Systems; Participant; Patient Data Privacy; Patient Participation; Patient Recruitments; Patients; Preclinical Drug Development; Procedures; Process; Registries; Research; Research Personnel; Resource Sharing; Resources; Role; Running; Safety; Site; System; Telemedicine; Time; Universities; Visit; biobank; clinical Diagnosis; data de-identification; drug discovery; electronic data; experience; experimental study; genetic analysis; genetic disorder diagnosis; genetic testing; improved; longitudinal database; member; mouse model; neuromuscular; patient registry; programs; repository; research study; success; volunteer; web portal

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.

强直性肌营养不良症(DM)和面肩肩周型肌营养不良症(FSHD)有多个系统 严重的、进行性的、通常是致残的并发症。近几年来对生物多样性研究的新进展 糖尿病的发病机制已经指导了实验治疗的发展。现在有了新的紧迫感 加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资源 强直性肌营养不良1型(DM1)、2型(DM2)和FSHD患者的登记。会议的主要目标是 注册是为了帮助研究人员招募患者进行临床研究和试验，以制定 广泛的纵向患者信息数据库，并促进社区与患者和 提高家庭成员在研究过程中的意识、沟通和参与。同时， 以帮助研究人员了解什么对患者最重要。总体而言，书记官处有效运作 到目前为止，但我们正在提出几项改革，以使其在未来更加有效。首先，我们将开始 将基因诊断纳入参与登记处的进程，目的是提供基因诊断 对目前没有的FSHD患者(大约一半的FSHD注册成员)的确认。 其次，我们将建立在线数据收集能力，使用保护患者的方法 保密协议。第三，我们将与登记处的一组参与者建立远程医疗联系，以便有针对性地 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，以及 提高书记官处数据的质量和范围。作为推论，我们将检查收集的数据的有效性 通过远程医疗学习访问。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 通过分布对临床前药物开发有用的小鼠模型，在 这种方式最大限度地减少了进行药物发现实验的准备时间。总体而言，共享资源核心 将服务于我们中心的研究人员的需求，我们中心是研究常染色体的更大的研究社区 主要形式的肌营养不良，以及与这些疾病生活在一起的患者和家庭。