Arizona Muscular Dystrophy Surveillance and Research Tracking Network (MD STARnet

描述(申请人提供)：目标1：对Duchenne/Becker肌营养不良症(DBMD)进行基于人群的监测和研究。练习1.1。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。通过一个新的或现有的委员会与其他MD STARnet站点一起参与，以检查与DBMD当前MD STARnet数据的数据收集、管理和分析相关的数据质量问题。练习1.2。向CDC提供有关DBMD监测现场经验的信息，作为CDC对MD STARnet评估的一部分。练习1.3。优化在患有DBMD的个人身上收集的临床数据变量的数量，以包括最多75-100个变量，这些变量产生可靠的相关信息，为公共卫生实践提供信息。活动1.4。在资助期的第一年，使用减少的变量数量对新的和后续的DBMD病例进行病历摘要。活动1.5。设计并进行一次访谈，以确定影响患有DBMD的个人及其家人的医疗过渡和其他生命阶段问题。目的：设计并实施对另外7种肌营养不良症(强直性肌营养不良、先天性肌营养不良、肢体肌营养不良、Emery-Dreifuss肌营养不良、肩周性肌营养不良、远端肌营养不良和眼咽肌营养不良)的人群监测。练习2.1。通过评估现有的MD STARnet系统，修改或制定：(A)确定病例的协议；(B)病例定义；(C)数据收集工具，以收集关于流行率、人口统计、医疗保健覆盖范围和护理地点的信息；(D)全面的质量控制程序，以解决与数据收集、管理和分析有关的数据质量问题。练习2.2。发展或维持与当地诊所和利益相关者的伙伴关系。练习2.3。在第二年至第三年期间，对另外7例肌营养不良症进行一次病历提取。目的3：评估对9种肌营养不良症进行人群监测的方法学。练习3.1。在国家协调中心的领导下，与其他地点合作，编制一份总结报告，评估将监测扩大到其他肌营养不良症的情况。总结应包括：(A)使用的方法；(B)吸取的教训；(C)优势；(D)挑战；(E)成本；(F)障碍；(G)实施肌营养不良症和罕见疾病监测计划的建议。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、发布报告。练习4.1。提出并领导至少三份手稿；广泛合作撰写另外三份手稿。练习4.2。每年至少参加一次在亚特兰大举行的首席调查员会议，让调查员展示研究结果。 公共卫生相关性：该项目将扩大MD STARnet的工作范围，将更多的肌营养不良症纳入监测队列，并进行深入评估，为疾控中心未来实施其他罕见疾病的监测计划提供一份最佳实践手册。这将使疾控中心能够更好地将其资金分配给数据收集和实施，并绕过一些参与规划和设计监测活动系统的初创公司。

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.