Comp B-Western Intermountain Regional NMD STARnet

描述（由申请人提供）：肌营养不良症和脊髓性肌萎缩症是神经肌肉疾病，导致越来越多的医疗残疾和医疗费用负担。所有这些疾病都有一些证据表明，早期发现和积极的预防保健管理可以提高发病率和死亡率。为此，每种疾病都有一个现有的或近乎完整的标准护理指南。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肌强直性营养不良症，有记录的诊断延迟损害了合格的个人提供这样的护理。杜氏肌营养不良症、肌强直性营养不良症或脊髓性肌萎缩症的新治疗方法正在开发中，这一点得到了强调。治疗效果很可能取决于早期分娩。该应用程序建议在犹他州和内华达州建立一个监测网络，以检测肌肉萎缩症和脊髓性肌萎缩症的所有病例。这些州包括大约600万人口。监控项目建议使用一种创新的工具——自然语言处理，从各州的电子医疗记录中更有效、更可靠地检测出此类病例。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差异，并确认从电子健康记录中确定的病例。最后，本提案旨在确定服务不足社区的护理差异，特别是通过指南的遵守，并解决这些差异。一旦完成，该建议将更好地了解肌肉萎缩症或脊髓性肌萎缩症患者的患病率、发病率和死亡率。这一信息对于未来的疾病修饰治疗试验以及检测和治疗糖尿病至关重要

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.