Component A: Iowa MD STARnet Core Site

项目总结 2001年批准的肌营养不良症社区援助、研究和教育修正案 美国疾病控制与预防中心创建国家级肌营养不良流行病学 程序。该计划-肌肉营养不良监测、跟踪和研究网络(MD STARnet)-成立于2002年，目的是进行以人口为基础的监测和长期跟踪 被诊断为Duchenne和Becker肌营养不良症(DBMD)的个人。2011年，MD星网 扩大到包括对另外七个MD的横断面监测(先天性、远端、砂砾- Dreifuss、面部肩肱、四肢腰带、肌强直和眼咽部)，并在2014年扩大 监视仍在继续。我们的爱荷华州MD星网核心站点是MD的四个特许权获得者之一 并在2006、2011和2014年成功退款。作为MD STARnet核心站点，我们 成功整合了爱荷华州主要合作伙伴提供的临床、计划和转诊资源，例如 作为爱荷华州神经肌肉计划和爱荷华州肌营养不良协会，与活跃的， 爱荷华州先天性和遗传性疾病登记处的人口资源 对DBMD进行纵向监测，并对另外7名MD进行横断面监测。我们的 与生殖分子流行病学研究和教育项目建立伙伴关系 爱荷华大学提供了经验丰富的调查人员进行数据分析并发布MD STARnet 数据。对于拟议的项目，我们将利用我们高技能和成功的团队来扩展和扩大我们的 在以人口为基础的纵向监测和研究中对9名MD的领导作用。我们建议 继续与疾控中心调查人员和其他获奖者合作，实施标准化 方法和数据收集活动。为了实现这一目标，我们的目标是：1)新建和维护现有的 与MD合作伙伴建立关系，以加强和促进监测工作；2)继续进行 使用现有MD STARnet方法识别和收集数据的纵向、基于人群的监测 对患有九种MD之一的个人进行研究；以及3)开发研究方法和工具以加强监测 数据收集。在我们计划的研究活动中，将包括检查患有 MD，评估参与和不参与临床试验，以及评估临床试验的影响 参与马里兰州的自然历史。从我们建议的监视和研究中产生的结果 活动将确定MD对公众健康的影响，并有助于临床了解自然 受MD影响的个人和家庭的病史、生存和死亡率以及医疗保健需求。这些 调查结果还将指导公共卫生机构制定和提供以下政策和方案 将确保获得全面的医疗服务，并将个人与MD及其家人联系起来 将提高生活质量的社会服务。

PROJECT SUMMARY The Muscular Dystrophy Community Assistance, Research, and Education Amendments of 2001 authorized the Centers for Disease Control and Prevention to create a National Muscular Dystrophy Epidemiology Program. This program – The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) – was established in 2002 to conduct population-based surveillance and long-term follow-up of individuals diagnosed with Duchenne and Becker muscular dystrophies (DBMD). In 2011, the MD STARnet expanded to include cross-sectional surveillance for seven additional MDs (congenital, distal, Emery- Dreifuss, facioscapulohumeral, limb-girdle, myotonic, and oculopharyngeal), and in 2014, this expanded surveillance was continued. Our Iowa MD STARnet Core Site was one of four charter awardees for the MD STARnet in 2002 and was successfully refunded in 2006, 2011, and 2014. As an MD STARnet Core Site, we successfully integrated clinical, programmatic, and referral resources provided by key partners in Iowa, such as the Iowa Neuromuscular Program and the Iowa Muscular Dystrophy Association, with the active, population-based resources of the Iowa Registry for Congenital and Inherited Disorders to conduct longitudinal surveillance of DBMD and cross-sectional surveillance for the seven additional MDs. Our partnership with the Reproductive Molecular Epidemiology Research and Education Program at The University of Iowa has provided experienced investigators to conduct data analyses and publish MD STARnet data. For the proposed project, we will use our highly skilled and successful team to extend and expand our leadership role in population-based longitudinal surveillance and research for the nine MDs. We propose to continue working collaboratively with CDC investigators and other grant awardees to implement standardized methods and data collection activities. To accomplish this, we aim to: 1) build new and maintain existing relationships with MD partners to enhance and promote surveillance efforts; 2) continue to conduct longitudinal, population-based surveillance using existing MD STARnet methods to identify and gather data on individuals with one of the nine MDs; and 3) develop research methods and tools to augment surveillance data collection. Among our planned research activities will be examining pregnancy among individuals with MD, evaluating clinical trial participation and non-participation, and assessing the impact of clinical trial participation on the natural history of MD. Findings generated from our proposed surveillance and research activities will identify the public health impact of MD and contribute to the clinical understanding of the natural histories, survival and mortality, and healthcare needs of individuals and families affected by MD. These findings also will guide public health agencies in the development and provision of policies and programs that will ensure access to comprehensive healthcare services and link individuals with MD and their families to social services that will improve quality of life.