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

项目摘要 肌营养不良(MD)是一组不同类型的遗传性肌肉疾病 以肌肉萎缩和虚弱为特征，对儿童和成人都有影响。世界范围内 在一项回顾研究中估计遗传性神经肌肉疾病的患病率为28.6/10万，以及 如果包括较罕见的疾病，则为33.3/10万。作为一个群体，这些障碍涵盖了相当大比例的 而最近关于MD在美国流行的研究还不多见。 对于这个项目，我们建议利用过去16年获得的经验和发展的方法 为了改进已经建立的肌肉营养不良纵向监测系统， 通过确定符合条件的MD的个人，对符合条件的MD进行基于人群的监测和研究；以及 进行纵向跟踪和研究。我们计划继续我们的多来源监测工作，因为 它们在肌营养不良症监测、跟踪和研究网络(MD)中发挥了作用 STARnet)。此外，我们建议使用的行政数据将降低成本，同时加强案件识别 以得出更完整的患病率。第二，我们将利用我们广泛的专业网络 SITE多年来一直在开发一项调查，以补充监测数据并帮助 解决由组织和患者权益倡导团体提出的关键分析问题 代表受各种肌肉营养不良影响的个体。最后，确保罕见的患者 疾病获得最高质量的诊断和护理带来了最好解决的挑战 通过协作和资源共享。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，我们的努力可能会被用来 改进保健系统，以最低的成本提供最大的结果，包括社会的财政成本 以及照顾家庭的负担。我们将与地方、州和国家的项目和患者合作 倡导团体在项目开发期间经常分享研究成果。成功的协作和 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 进行临床研究，以增进对罕见病的认识。

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.