Component C - The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) in Utah

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PROJECT SUMMARY/ABSTRACT The muscular dystrophies (MD) are disorders of muscle leading to progressive muscle weakness, and reduced quality of life and mortality due to respiratory and cardiac complications. In addition to significant motor, respiratory, and cardiac complications, affected individuals and families have social, psychological, and cognitive issues which are not well understood. For the MD STARnet project, nine muscular dystrophies are included: Duchenne and Becker muscular dystrophy (DBMD), distal, Emery-Dreifuss, limb-girdle, oculopharyngeal, congenital, myotonic dystrophy, and facioscapulohumeral dystrophy. Recent development and implementation of standardized care guidelines for DBMD, and other neuromuscular conditions are expected to result in improved clinical outcomes; however, published evidence remains limited. Emerging therapeutic options for these disorders are a source of great hope and opportunity for realizing improved outcomes; however, a better understanding of the range of disease severity and current care burden in these disorders is critical to the success of such initiatives. The University of Utah MD STARnet team has been active during the current funding cycle (DD001108: 9/1/2014-8/31/2019) and is uniquely situated to continue to conduct research as part of Component C. As part of Component A, our engagement with local and national neuromuscular foundations has been important to determine questions that our research can answer in order to address gaps in knowledge. For Component C, we will focus on the objectives and approach outlined in the funding opportunity announcement with an overall goal to continue our existing projects with proposed new research projects using MD STARnet data. Furthermore, we plan to conduct surveys to evaluate the psychological and neurobehavioral function, and health-related quality of life in patients with MDs. We will disseminate our findings through local, national, and international presentations at professional society meetings and submit manuscripts to peer-reviewed journals. Our existing program’s strengths and resources will increase knowledge of the medical issues and barriers to care facing these individuals, and enhance our ability to provide more consistent quality care to our patients. Furthermore, we propose that this project will allow us to assess the impact of implementation of standardized care guidelines on clinical outcomes and cost of care for such patients. We will analyze high-priority questions addressed in the MD STARnet Research Agenda (Aim 1), identify additional gaps in understanding with a focus on psychological and neurobehavioral comorbidities and health-related quality of life (Aim 2), and provide secondary analyst support for other MD STARnet sites on a minimum of three research projects (Aim 3).