Repository and Registry of Myotonic Dystrophy Core

科学资源核心 罗切斯特大学Paul D Wellstone MDCRC资料库和强直性肌营养不良国家登记处 患者和家属 在过去的5年里，我们在理解疾病机制方面取得了显着进展， 强直性肌营养不良（DM1和DM2）。一个相对完整的病理生理学了解这些 疾病是触手可及的，新的治疗方法，可以扭转肌强直的动物模型DM1是 已经有了。为了最大限度地利用这些研究机会，研究人员需要获得关键的 生物学和生物信息学资源以及愿意参与临床研究的患者。实现 为了实现这些目标，我们建议联合收割机我们目前的Wellstone中心知识库核心和NIH赞助的 国家强直性肌营养不良症患者登记处，并加强登记处的资源。的 资源库中的资源包括DM成肌细胞、转基因小鼠模型和源自这些模型的细胞。 用于表达扩增的RNA重复序列和用于开发新的重复序列模型的质粒 扩张性疾病抗体和组织样本在目前资助的行动中， URMC Wellstone MDCRC以外的调查人员以及我们中心内的调查人员使用了知识库 资源需要一个大型的DM1患者信息数据库来识别 治疗试验的最佳终点，并开发更好的临床护理方法。为了实现这一 我们的目标包括我们的国家登记处的DM 1患者和家庭成员，其中包含信息 对676名糖尿病患者进行了研究，并对70%的患者进行了6年的年度临床数据。书记官处是一个主要的 在更新申请中为项目1招聘的资源，对研究人员来说是一个宝贵的资源 在Wellstone MDCRC网络内外。我们计划招募80例DM 1登记研究患者， 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个月、12个月和36个月。这些发现将提升他们过去和现在的价值 登记处的资料。通过帮助消除研究障碍，登记册和存储库将 提高糖尿病研究的质量和数量，并鼓励新的参与和参与 研究者、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.