Repository and Registry of Myotonic Dystrophy Core

科学资源核心 罗切斯特大学保罗·D·韦尔斯通MDCRC资料库和强直性肌营养不良国家登记处 病人和家属 在过去的五年里，我们对疾病机制的了解取得了显著的进展。 强直性肌营养不良(DM1和DM2)。对这些疾病有相对完整的病理生理认识 疾病是触手可及的，可以逆转DM1动物模型肌强直的新疗法是 已经有货了。为了最大限度地利用这些研究机会，研究人员需要访问关键的 生物和生物信息资源以及愿意参与临床研究的患者。要实现 为了实现这些目标，我们建议将我们目前的Wellstone Center Repository Core和我们由NIH赞助的 国家强直性肌营养不良患者登记处，并加强登记处的资源。这个 资料库中的资源包括DM成肌细胞、转基因小鼠模型和从这些细胞衍生的细胞 用于表达扩展的RNA重复序列和开发新的重复序列模型的模型、质粒 扩张性疾病、抗体和组织样本。在目前得到资助的行动中，许多 URMC Wellstone MDCRC之外的调查人员以及我们中心内部的调查人员都使用了Repository 资源。需要一个详细描述DM1患者特征的大型信息数据库来识别 治疗试验的最佳终点，并开发更好的临床护理方法。要做到这一点 目标我们已经包括了我们的全国DM1患者和家庭成员登记表，其中包含信息 对676例糖尿病患者，并有6年来70%的患者的年度临床数据。注册处是一个主要的 续签申请中项目1的招聘资源，对研究人员来说是一个有价值的资源 在韦尔斯通MDCRC网络内外。我们计划招募80名患有DM1的登记患者用于 项目1的研究。这些患者将参与项目1的纵向临床评估 分别发生在0、12和36个月。这些发现将增强它们的过去和现在的价值 注册处的信息。通过帮助消除研究障碍，书记官处和储存库将 提高DM研究的质量和数量，鼓励新的 调查人员、患者、家庭成员和护理提供者。

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.