Comp A-Surveillance and Research of Muscular Dystrophies and Neuromuscular Disorders

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）一直是一个多州的一部分，（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（CDC）的合作协议，肌肉营养不良监测，跟踪，MD STARnet是一个全球性的研究网络，它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问题的数据。作为MD STARnet的一部分，我们对杜氏和贝克尔肌营养不良症（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。具体目标和活动（见本文件末尾）将允许MD STARnet站点：1）继续收集重点数据并发布MDSTARnet人群的报告，以进一步了解有关DBMD和其他七种肌营养不良症的科学和临床问题，包括有关生存，需求，生活质量的信息，以及有这些情况的青少年和成年人的重要过渡期; 2）收集和传播从第一次 网络在美国设计和实施基于人口的监测和研究这些条件; 3）试点纵向模型，以确定患病率，人口统计，医疗保健覆盖范围，以及照顾庞贝氏症的位置，并评估和报告这一活动的结果，利用电子数据库以及新生儿筛查数据。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。

DESCRIPTION (provided by applicant): Since 2002, the 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 (CDC), 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. As part of MD STARnet, we have conducted population-based surveillance and epidemiologic research of Duchenne and Becker Muscular Dystrophy (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 (shown at the end of this document) in this proposal will allow the MD STARnet sites to: 1) continue to collect focused data and publish reports on the MDSTARnet population to further inform scientific and clinical questions about DBMD plus seven other muscular dystrophies, 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) pilot a longitudinal model to determine the prevalence, demographics, healthcare coverage, and locations of care for Pompe disease and evaluate and report the results of this activity utilizing electronic data bases as well as newborn screening data. Using this existing model and Network is an efficient way to gain important insights about a heterogeneous and complex group of conditions.