Network for Observational Study of Virginia Muscular Dystrophies (NoVA MD)

弗吉尼亚肌营养不良症观察研究网络 (NoVA MD)

• 批准号: 10220780
• 负责人: Nicholas Elwood Johnson
• 金额: $ 34.23万
• 依托单位: VIRGINIA COMMONWEALTH UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10220780
• 关键词: Network; Observational; Study; Virginia; Muscular

Project Summary/Abstract The Muscular Dystrophies 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, many muscular dystrophies have 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 or Myotonic Dystrophy. It is very likely that treatment effectiveness may hinge on early delivery. This application proposes to develop a surveillance network in the Commonwealth of Virginias to detect all cases of muscular dystrophy. Virginia includes a diverse population of around 8.3 million persons. The surveillance program proposes use the robust network of muscular dystrophy care centers as the primary surveillance source, bolstered by secondary state and hospital sources. The investigators have proposed surveys of patients to identify the additional impact of cognitive impairment in the muscular dystrophies. A second survey is proposed to understand the complications in pregnancy related to the muscular dystrophies. 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. This information is critical for future disease-modifying therapeutic trials and the detection and care of those individuals who may not currently have access to the standard of care.

项目概要/摘要 肌肉营养不良症是神经肌肉疾病，导致医疗负担日益增加 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降低发病率和死亡率。为此，许多 肌营养不良症有现有或接近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会损害 合格的个人提供此类护理。有希望的新疗法强调了这一点 专为杜氏肌营养不良症或强直性肌营养不良症开发。治疗的可能性很大 有效性可能取决于早期交付。该申请建议在该地区开发一个监控网络 弗吉尼亚州检测所有肌营养不良症病例。弗吉尼亚州拥有多元化的人口 约830万人。监测计划建议使用强大的肌营养不良网络 护理中心作为主要监测来源，并得到二级国家和医院来源的支持。这 研究人员建议对患者进行调查，以确定认知障碍对患者的额外影响 肌肉营养不良症。建议进行第二项调查，以了解与以下因素相关的妊娠并发症： 肌肉营养不良症。最后，该提案旨在确定服务不足的社区中的护理差异， 特别是通过遵守准则，并解决这些差异。一旦完成，该提案将 更好地了解肌肉萎缩症患者的患病率、发病率和死亡率 营养不良。这些信息对于未来的疾病缓解治疗试验以及检测和护理至关重要 目前可能无法获得标准护理的个人。