SCIENTIFIC RESOURCE COREUniversity of Rochester Paul D Wellstone MDCRC Repository and National Registry of Myotonic DystrophyPatients and Family MembersThe last 5 years have brought remarkable progress in our understanding of the disease mechanisms in themyotonic dystrophies (DM1 & DM2). A relatively complete pathophysiologic understanding of thesedisorders is within reach, and new treatments that can reverse myotonia in animal models of DM1 arealready available. To maximally exploit these research opportunities investigators need access to criticalbiological and bioinformatic resources and to patients willing to participate in clinical studies. To achievethese goals, we propose to combine our current Wellstone Center Repository Core and our NIH sponsoredNational Registry of Myotonic Dystrophy Patients and to enhance the resources of the Registry. Theresources in the Repository include DM myoblasts, transgenic mouse models and cells derived from thesemodels, plasmids for expressing expanded RNA repeats and for developing new models for repeatexpansion disorders, antibodies, and tissue samples. During the currently funded operation manyinvestigators outside of the URMC Wellstone MDCRC as well as within our Center have used Repositoryresources. A large database of information in carefully characterized DM1 patients is needed to identifyoptimal endpoints for treatment trials and develop better approaches for clinical care. To accomplish thisgoal we have included our National Registry of DM1 patients and family members which contains informationon 676 DM patients and has 6 years of annual clinical data on 70% of the patients. The Registry is a majorresource for recruitment for Project 1 in the renewal application and is a valuable resource to researcherswithin and outside of the Wellstone MDCRC network. We plan to recruit 80 Registry patients with DM1 forthe studies of Project 1. Those patients will participate in the longitudinal clinical assessments of Project 1that occur at 0, 12 and 36 months. These findings will enhance the value of their past and presentinformation in the Registry. By helping to remove barriers to research, the Registry and Repository willimprove the quality and quantity of research on DM and stimulate participation and involvement of newinvestigators, patients, family members, and care providers.
Showing the most recent 10 out of 88 publications
