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

项目摘要/摘要 肌肉营养不良是一种神经肌肉疾病，造成越来越多的医疗负担 残疾和医疗保健费用。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，许多 肌营养不良症有一个现有的或几乎完全的标准护理指南。《实施》 这种护理需要及早发现受影响的个人或处于危险之中的人。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，有记录的延迟诊断损害 有资格的个人不能提供这种护理。这一点得到了强调，因为有希望的新疗法是 专为杜氏肌营养不良症或强直性肌营养不良症而开发。很有可能治疗 有效性可能取决于及早交付。该应用程序建议在 维吉尼亚联邦检测所有肌肉营养不良病例。弗吉尼亚州包括一个多元化的人口群体 大约830万人。该监测计划建议使用肌肉营养不良症的强大网络 护理中心作为主要的监测来源，辅之以州和医院的次要来源。这个 研究人员提议对患者进行调查，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，以了解与以下因素有关的妊娠并发症 肌肉营养不良症。最后，这项提案寻求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，这项提案将 更好地了解肌肉疾病患者的患病率、发病率和死亡率 营养不良。这一信息对未来的疾病修饰治疗试验以及检测和护理至关重要 那些目前可能无法获得护理标准的个人。

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.