Comp B-Western Intermountain Regional NMD STARnet

描述（由申请人提供）：肌营养不良和脊髓性肌萎缩是神经肌肉疾病，导致医疗残疾和医疗保健费用负担日益增加。所有这些疾病都有一些证据表明，早期发现和积极的预防性护理管理可能会降低发病率和死亡率。为此，每种疾病都有一个现有的或几乎完整的护理指南标准。实施这种护理需要及早发现受影响的个人或有风险的人。在许多疾病中，如杜氏肌营养不良症或强直性肌营养不良症，有记录的诊断延迟损害了合格的个人提供这种护理。这是强调了有前途的新疗法正在开发的杜氏肌营养不良症，强直性肌营养不良症，或脊髓性肌萎缩症。很可能，治疗的有效性可能取决于早期分娩。本申请提出在犹他州和内华达州开发监测网络，以检测肌营养不良和脊髓性肌萎缩的所有病例。这些州包括约600万人口的多样化人口。该监测计划建议使用一种创新的工具，自然语言处理，以更有效和可靠地从各州的电子医疗记录中检测此类病例。其次，该监测计划利用独特的资源，犹他州人口数据库，以更好地了解家庭之间的变化，并确认从电子健康记录中发现的病例。最后，该提案旨在确定服务不足社区的护理差异，特别是通过遵守准则，并解决这些差异。一旦完成，这一建议将实现更好地了解患病率，发病率和死亡率在这些人与肌肉萎缩症或脊髓性肌萎缩症。这一信息对于未来的疾病修饰治疗试验，以及对于检测和 照顾那些目前可能无法获得标准护理的人。

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.