Arizona Muscular Dystrophy Surveillance and Research Tracking Network (MD STARnet

描述（由申请人提供）：目标1：开展基于人群的Duchenne/Becker肌营养不良症（DBMD）监测和研究。1.1活动。检查用于公共卫生实践的现有DBMD数据集的数据效用和质量。通过新的或现有的委员会与MD STARnet的其他站点合作，检查与数据收集、管理和分析相关的数据质量问题。1.2活动。向疾病控制与预防中心提供有关DBMD监测现场经验的信息，作为疾病控制与预防中心对MD STARnet评估的一部分。1.3活动。细化收集的DBMD患者临床数据变量的数量，使其最多包括75-100个变量，这些变量可产生可靠的相关信息，为公共卫生实践提供信息。1.4活动。在资助期的第1年，使用减少的变量数对新发和后续DBMD病例进行病历抽象化。1.5活动。设计并进行访谈，以确定影响DBMD患者及其家庭的医疗保健过渡和其他生命阶段问题。目的2：设计并实施针对另外7种肌肉营养不良症（肌强直性、先天性、肢带性、艾默-德雷弗斯、面肩肱骨、远端和眼咽）的人群监测。2.1活动。通过评估现有的MD STARnet系统，修改或发展：(a)确定病例的议定书；(b)案例定义；(c)数据收集工具，收集关于流行情况、人口统计、医疗保健覆盖面和护理地点的信息；(d)处理与数据收集、管理和分析有关的数据质量问题的综合质量控制程序。2.2活动。发展或维持与当地诊所和利益相关者的伙伴关系。2.3活动。在Y2-Y3期间对另外7例肌肉萎缩症进行1次病历提取。目的3：评估对9种肌肉萎缩症进行基于人群的监测的方法。3.1活动。在国家协调中心的领导下，与其他站点合作编写一份总结报告，评估将监测范围扩大到其他肌肉萎缩症的情况。摘要应包括：(a)使用的方法；(b)吸取的教训；(c)的优势;(d)挑战;(e)成本;(f)障碍;(g)关于实施肌肉萎缩症和罕见疾病监测方案的建议。目标4：利用2002-2011年在MD STARnet上收集的信息分析数据、发表文章和传播报告。4.1活动。提出并领导至少三篇稿件；在另外三份手稿上广泛合作。4.2活动。每年至少参加一次在亚特兰大举行的首席研究员会议，供研究人员介绍研究结果。

DESCRIPTION (provided by the applicant): Objective 1: Conduct population-based surveillance and research of Duchenne/Becker muscular dystrophy (DBMD). Activity 1.1. Examine data utility and quality of existing DBMD data set for public health practice. Participate with other MD STARnet sites through a new or existing committee to examine data quality issues associated with data collection, management and analysis of current MD STARnet data for DBMD. Activity 1.2. Provide information to CDC regarding site experiences with surveillance for DBMD as part of a CDC assessment of MD STARnet. Activity 1.3. Refine the number of clinical data variables collected on individuals who have DBMD to include a maximum of 75-100 variables that yield reliable, relevant information that informs public health practice. Activity 1.4. Conduct medical record abstraction of new and follow-up DBMD cases using the reduced number of variables during year 1 of the funding period. Activity 1.5. Design and conduct an interview to determine healthcare transition and other life stage issues affecting individuals with DBMD and their families. Objective 2: Design and implement population-based surveillance on seven additional muscular dystrophies (Myotonic, Congenital, Limb-Girdle, Emery-Dreifuss, Facioscapulohumeral, Distal, and Oculopharyngeal). Activity 2.1. Through assessment of the existing MD STARnet system, modify or develop: (a) Protocols for ascertaining cases; (b) Case definitions; (c) Data collection instruments to collect information on prevalence, demographics, healthcare coverage, and locations of care; (d) Comprehensive quality control procedures to address data quality issues associated with data collection, management and analysis. Activity 2.2. Develop or maintain partnerships with local clinics and stakeholders. Activity 2.3. Conduct medical record abstraction for seven additional muscular dystrophies once during Y2-Y3. Objective 3: Assess methodology for conducting population-based surveillance for the nine muscular dystrophies. Activity 3.1. Under the leadership of the national coordinating center, collaborate with other sites to produce a summary report assessing the expansion of surveillance to other muscular dystrophies. The summary should include: (a) Methods used; (b) Lessons learned; (c) Strengths; (d) Challenges; (e) Costs; (f) Barriers; (g) Recommendations for conducting muscular dystrophy and rare disease surveillance programs. Objective 4: Analyze data, publish articles, and disseminate reports using information collected on MD STARnet from 2002-2011. Activity 4.1. Propose and lead a minimum of three manuscripts; extensively collaborate on three other manuscripts. Activity 4.2. Participate in at least one Principal Investigator meeting per year in Atlanta for investigators to present study findings. PUBLIC HEALTH RELEVANCE: This project will expand the work of the MD STARnet to include additional muscular dystrophies into the surveillance cohort and conduct an in-depth evaluation resulting in a best practices manual for the CDC in implementing future surveillance programs for other rare disorders. This will allow the CDC to better allocate their funds toward data collection and implementation and circumvent some of the start-up involved in planning and designing systems for surveillance activities.