Comp B-Western Intermountain Regional NMD STARnet

比较 B-西部山间区域 NMD STARnet

• 批准号: 8915498
• 负责人: Stefan M. PULST
• 金额: $ 42万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-01 至 2019-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8915498
• 关键词: Comp; Western; Intermountain; Regional; NMD

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.

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，导致医疗残疾和医疗费用的负担日益增加。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提高发病率和死亡率。为此，每种疾病都有现有或接近完整的护理指南标准。实施此类护理需要及早发现受影响的个人或高危人群。在许多疾病中，例如杜氏肌营养不良症或强直性肌营养不良症，有记录显示诊断延迟，从而损害了合格人员提供此类护理的能力。正在开发的针对杜氏肌营养不良症、强直性肌营养不良症或脊髓性肌萎缩症的有希望的新疗法强调了这一点。治疗效果很可能取决于早期分娩。该申请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。这些州拥有约 600 万多元化人口。该监测计划建议使用一种创新工具，即自然语言处理，来更有效、更可靠地从各州的电子病历中检测此类病例。其次，该监测计划利用独特的资源——犹他州人口数据库——来更好地了解家庭之间的差异，并确认从电子健康记录中识别出的病例。最后，该提案旨在确定服务不足社区的护理差异，特别是通过遵守指南，并解决这些差异。一旦完成，该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。这些信息对于未来的疾病修饰治疗试验以及检测和治疗至关重要。 照顾目前可能无法获得标准护理的个人。