Network for Observational Study of Virginia Muscular Dystrophies (NoVA MD)

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Project Summary/Abstract The Muscular Dystrophies are neuromuscular disorders that account for an increasing burden of medical disability and healthcare costs. All of these disorders have some evidence to suggest that early detection and aggressive preventative care management may improve the morbidity and mortality. To that end, many muscular dystrophies have an existing or nearly complete standard of care guideline. The implementation of such care requires early detection of affected individuals or those at-risk. In many disorders, such as Duchenne Muscular Dystrophy or Myotonic Dystrophy, there is a documented delay in diagnosis that impairs qualified individuals from delivering such care. This is underscored by promising new treatments being developed for Duchenne Muscular Dystrophy or Myotonic Dystrophy. It is very likely that treatment effectiveness may hinge on early delivery. This application proposes to develop a surveillance network in the Commonwealth of Virginias to detect all cases of muscular dystrophy. Virginia includes a diverse population of around 8.3 million persons. The surveillance program proposes use the robust network of muscular dystrophy care centers as the primary surveillance source, bolstered by secondary state and hospital sources. The investigators have proposed surveys of patients to identify the additional impact of cognitive impairment in the muscular dystrophies. A second survey is proposed to understand the complications in pregnancy related to the muscular dystrophies. Finally, this proposal seeks to identify care disparities in underserved communities, particularly through guideline adherence, and address these disparities. Once complete, this proposal will achieve a better understanding of the prevalence, morbidity, and mortality in those individuals with muscular dystrophy. This information is critical for future disease-modifying therapeutic trials and the detection and care of those individuals who may not currently have access to the standard of care.