: 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.
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.
|Do, ThuyQuynh N; Street, Natalie; Donnelly, Jennifer et al. (2018) Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011. Birth Defects Res 110:1404-1411|