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

肌营养不良症监测、跟踪和研究网络 (MD STARnet) 组件 A - 核心当前

• 批准号: 10002057
• 负责人: Aida Soim
• 金额: $ 37.5万
• 依托单位: CENTER OF ENVIRONMENTAL HEALTH
• 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/10002057
• 关键词: Muscular; Dystrophy; Surveillance; Tracking; Research

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.

项目摘要 肌营养不良症（MD）是一组异质性遗传性肌肉疾病 以肌肉萎缩和虚弱为特征，儿童和成人都有。全球 一项回顾性研究估计遗传性神经肌肉疾病的患病率为28.6/10万， 33.3/100，000，如果包括更罕见的疾病。作为一个群体，这些疾病涵盖了相当大的比例， 慢性病患者，而最近的研究在美国的MD的患病率是缺乏的。 对于这一项目，我们建议利用过去16年来获得的经验和发展的方法 为了改进已经建立的肌营养不良监测系统， 通过识别符合条件的MD个体，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源监视工作， 它们对肌营养不良症监测、跟踪和研究网络（MD）有效 STARnet）。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 得出更完整的患病率。其次，我们将利用我们广泛的专业知识网络， 多年来，该网站一直在开发一项调查，以补充监测数据，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 疾病获得最佳质量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，并与政策制定者和支付者分享我们的发现，我们的努力可能会被用来 改善护理系统，以最低的成本，包括社会的财政成本，提供最大的效果 和照顾家庭的负担。我们将与当地、州和国家项目合作， 倡导团体在项目开发和分享研究成果经常。成功的合作和 广泛传播研究结果将改善患者及其家属的生活，并可能导致更多的 临床研究，以提高对罕见疾病的认识。