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

项目总结/摘要 肌营养不良症是神经肌肉疾病，其造成越来越多的医疗负担。 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 积极的预防保健管理可改善发病率和死亡率。为此，许多 肌营养不良症具有现有的或几乎完整的护理指南标准。执行 这种护理需要及早发现受影响的个人或有危险的人。在许多疾病中，例如 Duchenne肌营养不良症或强直性肌营养不良症，有记录的诊断延迟， 有资格的人提供这种护理。这一点被有前途的新疗法所强调， 为杜氏肌营养不良症或强直性肌营养不良症开发。很可能治疗 能否取得成效取决于能否早日交付。本申请提出在该地区开发一个监控网络， 英联邦检测肌肉萎缩症的所有病例。弗吉尼亚州包括一个多样化的人口， 约830万人。监测计划建议使用强大的肌肉萎缩症网络 护理中心作为主要监测来源，辅之以二级国家和医院来源。的 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。 肌肉萎缩症建议进行第二次调查，以了解与下列因素有关的妊娠并发症： 肌肉萎缩症最后，该提案旨在确定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修饰治疗试验以及检测和护理至关重要。 这些人目前可能无法获得标准护理。

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.