Resources Core

资源核心

• 批准号: 10480093
• 负责人: RABI TAWIL
• 金额: $ 22.25万
• 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 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10480093
• 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 (DM) 和面肩肱型肌营养不良 (FSHD) 具有多系统特征 严重的、进行性的、常常致残的并发症。理解的最新进展 DM 的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转化资源。帮助 为了实现这些目标，我们建议维持和增强最古老、最全面的资源 强直性肌营养不良 1 型 (DM1)、2 型 (DM2) 和 FSHD 患者登记。主要目标 登记处将协助研究人员招募患者进行临床研究和试验，制定 广泛的纵向患者信息数据库，并促进患者和患者的社区外展 家庭成员增加对研究过程的认识、沟通和参与。并联， 帮助研究人员了解什么对患者最重要。总体而言，登记处有效运作 到目前为止，我们正在提出一些改变，以使其在未来更加有效。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 目前尚无 FSHD 患者（约一半的 FSHD 登记成员）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 保密性。第三，我们将与一组登记参与者建立远程医疗联系，以有针对性地 远距离数据收集。这将扩大世界各地患者参与研究的机会，并且 提高登记处数据的质量和范围。作为必然结果，我们将检查所收集数据的有效性 通过远程医疗考察访问。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，在 最大限度地减少进行药物发现实验的准备时间的方式。总体而言，共享资源核心 将满足我们中心研究人员的需求，这是研究常染色体的更大的研究人员社区 肌营养不良症的主要形式，以及患有这些疾病的患者和家庭。