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

描述(申请人提供)：自2002年以来，科罗拉多州公共卫生和环境部(CDPHE)一直是多个州(亚利桑那州、科罗拉多州、爱荷华州、纽约州、佐治亚州和夏威夷)与疾病控制和预防中心、肌营养不良症监测、跟踪和研究网络(MD STARnet)合作协议的一部分，该协议建立了从公共卫生角度了解遗传疾病流行病学所需的基础设施，并收集与结果和卫生服务相关的数据。CDPHE在公共卫生机构的领导下对Duchenne和Becker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/来源建立了牢固的、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。除了这一成功的合作外，科罗拉多大学公共卫生学院的工作人员现在也加入了我们的行列，他们在过去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，我们进行了基于人群的DBMD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，有助于美国对DBMD的科学和临床理解。这项建议的具体目标和活动将使MD STARnet网站能够：1)继续收集重点数据并发布关于MD STARnet人口的报告，以进一步了解有关DBMD的科学和临床问题，包括有关生存、需求、生活质量和患有这些疾病的青少年和成年人的重要过渡期的信息；2)收集和传播从美国第一个为这些疾病设计和实施基于人口的监测和研究的网络中学到的重要经验教训；3)扩展这一成功的模型，以确定其他七种肌营养不良症(强直性肌营养不良、先天性肌营养不良、Emery-Dreifuss肌营养不良症、肩周性面肌营养不良症、四肢带状肌营养不良症、远端肌营养不良症和眼咽肌营养不良症)的患病率、人口学特征、医疗覆盖范围和护理地点，并评估和报告这项活动的结果。使用现有的模型和网络是获得有关异类和复杂病症组的重要见解的有效方法。 公共卫生相关性：肌营养不良症监测、跟踪和研究网络(MD STARnet)为从公共卫生角度了解遗传疾病流行病学所需的基础设施建模，并收集与结果和卫生服务相关的问题的数据。其目标是改善肌肉营养不良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.