Comp B-Western Intermountain Regional NMD STARnet

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DESCRIPTION (provided by applicant): The Muscular dystrophies and Spinal Muscular Atrophy 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, each disorder has 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, Myotonic Dystrophy, or Spinal Muscular Atrophy. It is very likely that treatment effectiveness may hinge on early delivery. This application proposes to develop a surveillance network in the states of Utah and Nevada to detect all cases of muscular dystrophy and spinal muscular atrophy. These states include a diverse population of around 6 million persons. The surveillance program proposes uses an innovative tool, natural language processing, to more efficiently and reliably detect such cases from the states' electronic medical records. Secondly, this surveillance program utilizes a unique resource, The Utah Population Database, to better understand the between family variation and to confirm those cases identified from electronic health records. 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 or spinal muscular atrophy. This information is critical for future disease- modifying therapeutic trials, and for the detection and care of those individuals who may not currently have access to the standard of care.