The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet): Component A - Core-Current Site

摘要

Abstract Muscular dystrophies are genetic neuromuscular conditions characterized by progressive muscle weakness and degeneration that affect about 1 in 3,300 individuals. The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) provides valuable data on the nine major muscular dystrophies (MD)—Duchenne and Becker (DBMD), Myotonic Dystrophy (DM), Congenital (CMD), Limb Girdle (LGMD), Emery-Dreifuss, Facioscapulohumeral, Distal, and Oculopharyngeal—but knowledge gaps remain, especially on the impact in minority populations. RTI International and the University of North Carolina, with the cooperation of the North Carolina Department of Health and Human Services, conduct the North Carolina MD STARnet in the Piedmont (central) region. Our aims are to Specific Aim 1: Refine and strengthen longitudinal, population-based surveillance for muscular dystrophy in the Piedmont region of North Carolina. We will continue to use the MD STARnet methodology to conduct surveillance on eight major muscular dystrophies, accessing clinic and administrative data and abstracting data on diagnostic testing, family history, neuromuscular symptoms, cardiac and respiratory symptoms, medications, hospitalization and clinical visits, and comorbidities. We will expand our relationships with community hospitals and private providers in the region to increase case ascertainment and data access. Specific Aim 2: Contribute to knowledge about muscular dystrophy by conducting high-priority research using pooled MD STARnet data and North Carolina MD STARnet and administrative data. We will investigate DBMD mutation patterns among African Americans and Caucasians and the prevalence of cardiovascular risk factors among individuals with DM using pooled MD STARnet data. We will collaborate with CDC and other grantees to conduct research among MD STARnet-based cohorts. We propose research projects on female fertility and pregnancy among women with DM and on pain and pain management among muscular dystrophy patients. Specific Aim 3: Build, maintain, and extend partnerships with muscular dystrophy registries, professional societies, and state public health agencies and collaborations with CDC and other grantees. We will collaborate with other Component A and B recipients and CDC improve the surveillance system and conduct muscular dystrophy research. Specific Aim 4: Develop, and if possible, pilot methods for inclusion of cases identified by newborn screening into the MD STARnet surveillance project. Early Check is a voluntary newborn screening project being conducted across North Carolina by collaborators at RTI. This program provides a unique opportunity for North Carolina to develop and pilot methods for incorporating cases identified at birth into the MD STARnet surveillance methodology.