Repository and Registry of Myotonic Dystrophy Core

强直性肌营养不良核心的存储库和注册表

• 批准号: 7535919
• 负责人: RICHARD T MOXLEY
• 金额: $ 5.21万
• 依托单位: UNIVERSITY OF ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-09-30 至 2013-08-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7535919
• 关键词: Animal Model; Antibodies; Bioinformatics; Biological; Caring; Cells; Clinical; Clinical Data; Clinical Research; Clinical assessments; Databases; Disease; End Point; Family member; Funding; Goals; Modeling; Myoblasts; Myotonia; Myotonic Dystrophy; Operative Surgical Procedures; Patients; Plasmids; Provider; RNA; Recruitment Activity; Registries; Research; Research Personnel; Resources; Tissue Sample; Transgenic Organisms; United States National Institutes of Health; Universities; improved; mouse model; patient registry; repository; treatment trial

SCIENTIFIC RESOURCE CORE University of Rochester Paul D Wellstone MDCRC Repository and National Registry of Myotonic Dystrophy Patients and Family Members The last 5 years have brought remarkable progress in our understanding of the disease mechanisms in the myotonic dystrophies (DM1 & DM2). A relatively complete pathophysiologic understanding of these disorders is within reach, and new treatments that can reverse myotonia in animal models of DM1 are already available. To maximally exploit these research opportunities investigators need access to critical biological and bioinformatic resources and to patients willing to participate in clinical studies. To achieve these goals, we propose to combine our current Wellstone Center Repository Core and our NIH sponsored National Registry of Myotonic Dystrophy Patients and to enhance the resources of the Registry. The resources in the Repository include DM myoblasts, transgenic mouse models and cells derived from these models, plasmids for expressing expanded RNA repeats and for developing new models for repeat expansion disorders, antibodies, and tissue samples. During the currently funded operation many investigators outside of the URMC Wellstone MDCRC as well as within our Center have used Repository resources. A large database of information in carefully characterized DM1 patients is needed to identify optimal endpoints for treatment trials and develop better approaches for clinical care. To accomplish this goal we have included our National Registry of DM1 patients and family members which contains information on 676 DM patients and has 6 years of annual clinical data on 70% of the patients. The Registry is a major resource for recruitment for Project 1 in the renewal application and is a valuable resource to researchers within and outside of the Wellstone MDCRC network. We plan to recruit 80 Registry patients with DM1 for the studies of Project 1. Those patients will participate in the longitudinal clinical assessments of Project 1 that occur at 0, 12 and 36 months. These findings will enhance the value of their past and present information in the Registry. By helping to remove barriers to research, the Registry and Repository will improve the quality and quantity of research on DM and stimulate participation and involvement of new investigators, patients, family members, and care providers.

科学资源核心 罗切斯特大学Paul D Wellstone MDCRC存储库和Myotonic营养不良的国家注册表 病人和家人 过去的5年在我们对疾病机制的理解中取得了显着进步 肌发育症（DM1和DM2）。对这些的相对完整的病理生理理解 疾病已经触及，可以扭转DM1动物模型中肌t的新疗法是 已经可用。为了最大程度利用这些研究机会，调查人员需要访问关键 生物学和生物信息学资源以及愿意参加临床研究的患者。实现 这些目标，我们建议将我们当前的Wellstone Center存储库核心和NIH赞助 肌病性营养不良患者的国家注册表，并增强注册表的资源。这 存储库中的资源包括DM成肌细胞，转基因鼠标模型和细胞。 模型，用于表达扩展的RNA重复序列的质粒以及开发新模型以进行重复 膨胀障碍，抗体和组织样品。在当前资助的行动中许多 URMC Wellstone MDCRC以及我们中心的调查人员使用了存储库 资源。需要在经过精心表征的DM1患者中的大量信息数据库来识别 治疗试验的最佳终点，并开发出更好的临床护理方法。实现这一目标 目标我们包括我们的国家DM1患者和家庭成员注册表，其中包含信息 在676名DM患者中，有6年的年度临床数据，涉及70％的患者。注册表是主要的 续订应用程序中项目1招聘的资源，对研究人员来说是宝贵的资源 Wellstone MDCRC网络内外。我们计划招募80名DM1注册表患者 项目1的研究。这些患者将参加项目1的纵向临床评估 这发生在0、12和36个月。这些发现将增强其过去和现在的价值 注册表中的信息。通过帮助消除研究障碍，注册表和存储库将 提高DM研究的质量和数量，并刺激新的参与和参与 调查人员，患者，家庭成员和护理提供者。