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 that have reversed manifestations in mouse models of DM type 1 (DM1). There is now renewed urgency to enhance the translational resources needed to bring treatments into clinical trials. To help achieve these goals, we propose to enhance the resources of our current National Registry of DM and FSHD Patients and Family Members and Repository within our Wellstone Scientific Core. The goals of our National Registry are to develop an extensive database of de-identified patient information;assist researchers in the recruitment of patients into clinical studies;and promote community outreach with care providers, researchers, patients,- and family members to discuss disease manifestations. Select strengths of the Registry include;stringent review of clinical and genetic medical records;ability to tailor recruitment based on common inclusion and exclusion criteria;and annually updated information. Our National Registry has currently enrolled over 1,900 patients. Within the past four years, we have facilitated 19 research studies, led by 15 different investigators at 11 sites, including key recruitment of patients into our Wellstone clinical studies. The Repository includes transgenic mouse models, cells derived from these models, and human tissue samples. We have existing methods to collect, store, and distribute these materials. Over 20 investigators, within and outside our Wellstone Center, have used Repository resources the past Our Scientific Core will be vital in the renewal plans of our Wellstone Center to facilitate recruitment of patients and collection of biomaterials within our newly established DM Clinical Research Network. By helping to remove barriers to research, our Scientific Core will improve the quality and quantity of research on DM and stimulate participation of new investigators, patients, family members, and care providers.
Providing researchers with easy access to biological materials (e.g., mouse models and muscle tissues) and connecting patients with researcher are vitally important to move research forward. Our Scientific Core will provide safe, confidential, and open access to materials and interact with patients, with a common goal to guide research and to develop clinical guidelines and new therapies.
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