The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) Component A - Core-Current

项目摘要 肌营养不良症 (MD) 是一组异质性遗传性肌肉疾病 其特点是肌肉萎缩和无力，影响儿童和成人。世界范围内 一项回顾研究估计遗传性神经肌肉疾病的患病率为 28.6/100,000，并且 如果包括更罕见的疾病，则为 33.3/100,000。作为一个群体，这些疾病涵盖了相当大的比例 慢性病患者，而最近缺乏对美国 MD 患病率的研究。 对于这个项目，我们建议利用过去 16 年获得的经验和开发的方法 改进已经建立的肌营养不良症监测系统，进行纵向、 通过识别具有合格医学博士的个人，对合格医学博士进行基于人群的监测和研究，以及 进行纵向跟踪和研究。我们计划继续进行多源监控工作，因为 它们对肌营养不良症监测、跟踪和研究网络（MD 星网）。此外，我们建议使用行政数据将降低成本，同时加强案件识别 以获得更完整的患病率。其次，我们将利用我们广泛的专业知识网络 网站多年来不断发展，以开展一项调查来补充监测数据并帮助 解决组织和患者倡导团体提出的关键分析问题 代表受各种肌营养不良症影响的个体。最后，确保罕见病患者 疾病获得最优质的诊断和护理提出了最好解决的挑战 通过合作和资源共享。通过与患者组织等利益相关者合作， 临床医生和研究人员，并与政策制定者和付款人分享我们的发现，我们的努力可用于 改善护理系统，以最小的成本（包括社会的财务成本）提供最大的结果 以及照顾家庭的负担。我们将与地方、州和国家项目以及患者合作 项目开发期间的倡导小组并经常分享研究结果。成功的合作和 研究结果的广泛传播将改善患者及其家人的生活，并可能导致额外的 临床研究，以增强对罕见疾病的了解。

Project Abstract The muscular dystrophies (MDs) are a heterogeneous group of inherited muscular disorders characterized by muscle wasting and weakness, and they affect both children and adults. The worldwide prevalence of inherited neuromuscular diseases estimated in a review study was 28.6/100,000, and 33.3/100,000 if rarer disorders were included. As a group, these disorders cover a considerable proportion of patients with chronic disease, while recent studies of prevalence of the MDs in the United States are lacking. For this project, we propose utilizing the experience acquired and methods developed over the past 16 years to improve on an already established muscular dystrophy surveillance system conducting longitudinal, population-based surveillance and research of eligible MDs by identifying individuals with eligible MDs, and conducting longitudinal follow-up and research. We plan to continue our multiple source surveillance efforts, as they have been effective for the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). Further, our proposed use of administrative data will lower costs while enhancing case identification to yield more complete prevalence rates. Second, we will capitalize on the extensive network of expertise our site has developed throughout the years to develop a survey that complements the surveillance data and helps address the critical analytic questions posed by the organizations and patient advocacy groups which represent individuals affected by the various muscular dystrophies. Lastly, ensuring that patients with rare diseases get access to the best quality diagnosis and care presents challenges that are best addressed through collaborations and sharing of resources. By working with stakeholders such as patient organizations, clinicians, and researchers, and sharing our findings with policy makers and payers, our efforts may be used to improve systems of care to provide maximal results at minimal costs, including the financial costs to society and the burden of care for families. We will be partnering with local, state and national programs and patient advocacy groups during project development and sharing study findings often. Successful collaboration and wide distribution of study findings will improve the lives of patients and their families, and may lead to additional clinical studies in order to enhance knowledge about rare diseases.