Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Feasi

描述（申请人提供）：自2002年以来，科罗拉多公共卫生和环境部（CDPHE）一直是多州的一部分，（亚利桑那州、科罗拉多州、爱荷华州、纽约、格鲁吉亚和夏威夷）与疾病控制和预防中心的合作协议，肌肉营养不良监测、跟踪，科研网（MD STARnet）从公共卫生的角度对了解遗传性疾病流行病学所需的基础设施进行建模，并收集与结果和健康相关的问题的数据。服务CDPHE在公共卫生当局的领导下对杜氏和贝克尔肌营养不良症（DBMD）进行积极监测，并与用于识别DBMD病例的组织/来源建立了牢固、长期的关系。自MD STARnet成立以来，CDPHE一直与儿童医院的肌肉诊所（MDA诊所）合作。除了这次成功的合作，我们现在已经加入了来自科罗拉多大学公共卫生学院的工作人员，他们在过去的一年里为该项目增加了分析和出版专业知识。作为MD STARnet的一部分，我们对DBMD进行了基于人群的监测和流行病学研究，并发表了几篇文章来传播这项工作的结果。这些文章涵盖了诊断时的年龄、标准监测病例定义的制定、类固醇的使用以及患病率和死亡率等领域，并有助于对美国DBMD的科学和临床理解。本提案中的具体目标和活动将允许MD STARnet研究中心：1）继续收集重点数据并发布关于MD STARnet人群的报告，以进一步告知有关DBMD的科学和临床问题，包括有关生存、需求、生活质量以及患有这些疾病的青少年和成人的重要过渡期的信息; 2）收集和传播从美国第一个网络中吸取的重要“经验教训”，以设计和实施基于人群的监测和研究这些条件; 3）扩展这个成功的模型，以确定患病率，人口统计学，医疗保健覆盖范围，和其他七种肌营养不良症（强直性肌营养不良、先天性、Emery-Dreifuss、面肩肱、肢带、远端和眼咽）的护理地点，并评估和报告这项活动的结果。使用这种现有的模型和网络是一种有效的方式来获得有关异构和复杂的条件组的重要见解。 公共卫生相关性：肌营养不良监测、跟踪和研究网络（MD STARnet）从公共卫生的角度对了解遗传性疾病流行病学所需的基础设施进行建模，并收集有关结果和卫生服务相关问题的数据。目标是改善肌肉萎缩症患者获得护理和健康结果的机会。

DESCRIPTION (provided by applicant): Since 2002, Colorado Department of Public Health and Environment (CDPHE) has been part of a multi-state (Arizona, Colorado, Iowa, New York, Georgia and Hawaii) cooperative agreement with the Centers for Disease Control and Prevention, the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) that models the infrastructure necessary to understand the epidemiology of genetic disorders from a public health perspective and gathers data about issues related to outcomes and health services. CDPHE conducts active surveillance for Duchenne and Becker muscular dystrophy (DBMD) under public health authority and has strong, longstanding relationships with the organizations/sources that are used to identify cases of DBMD. CDPHE has partnered with The Muscle Clinic at The Children's Hospital (the MDA Clinic) since the inception of MD STARnet. In addition to this successful collaboration, we now have been joined by staff from the University of Colorado School of Public Health who have added analytic and publication expertise to the project in the past year. As part of MD STARnet, we have conducted population-based surveillance and epidemiologic research of DBMD and published several articles to disseminate the findings of this work. These articles have covered areas such as age at diagnosis, development of a standard surveillance case definition, use of steroids, and prevalence and mortality and have contributed to the scientific and clinical understanding of DBMD in the United States. The Specific Aims and Activities in this proposal will allow the MD STARnet sites to: 1) continue to collect focused data and publish reports on the MD STARnet population to further inform scientific and clinical questions about DBMD, including information about survival, needs, quality of life, and the important transition period for adolescents and adults with these conditions; 2) collect and disseminate important 'lessons learned' from the first network in the United States to design and implement population-based surveillance and research for these conditions; 3) expand this successful model to determine the prevalence, demographics, healthcare coverage, and locations of care for seven other muscular dystrophies (myotonic dystrophy, congenital, Emery-Dreifuss, facioscapulo-humeral, limb-girdle, distal, and oculopharyngeal) and evaluate and report the results of this activity. Using this existing model and Network is an efficient way to gain important insights about a heterogeneous and complex group of conditions. PUBLIC HEALTH RELEVANCE: The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) models the infrastructure necessary to understand the epidemiology of genetic disorders from a public health perspective and gathers data about issues related to outcomes and health services. The goal is to improve access to care and health outcomes of individuals with muscular dystrophies.