Comp B-Western Intermountain Regional NMD STARnet

描述(申请人提供)：肌营养不良症和脊髓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。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提高发病率和死亡率。为此，每种疾病都有一个现有的或几乎完全的护理标准指南。实施这种护理需要及早发现受影响的个人或处于危险之中的人。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，有记录的诊断延误，损害了合格的个人提供这种护理。Duchenne肌营养不良症、强直性肌营养不良症或脊柱肌萎缩症的前景看好的新疗法强调了这一点。很可能，治疗效果可能取决于及早分娩。该应用程序建议在犹他州和内华达州建立一个监测网络，以检测所有肌营养不良症和脊髓性肌萎缩症病例。这些州包括大约600万人口的多样化人口。该监测项目提议使用一种创新的工具--自然语言处理--来更有效、更可靠地从各州的电子医疗记录中检测到此类病例。其次，这项监测计划利用了一个独特的资源，即犹他州人口数据库，以更好地了解家庭之间的差异，并确认那些从电子健康记录中发现的病例。最后，这项提案试图找出服务不足社区的护理差距，特别是通过遵守准则，并解决这些差距。一旦完成，这项提案将更好地了解肌营养不良症或脊髓性肌萎缩症患者的患病率、发病率和死亡率。这一信息对未来的疾病修改治疗试验以及对检测和 护理那些目前可能无法获得护理标准的个人。

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.