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

摘要 肌营养不良是以进行性肌肉为特征的遗传性神经肌肉疾病。 每3,300人中就有1人受到影响。肌营养不良症的监护 追踪和研究网络(MD STARnet)提供了关于九大肌肉的宝贵数据 营养不良(MD)-Duchenne and Becker(DBMD)，强直性肌营养不良(DM)，先天性(CMD)，肢体女孩 (LGMD)、Emery-Dreifuss、面部肩关节、远端和眼咽部--但知识差距仍然存在， 特别是对少数群体的影响。RTI国际和北卡罗来纳大学，与 北卡罗来纳州卫生与公众服务部合作，开展北卡罗来纳州MD 位于皮埃蒙特(中部)地区的STARnet。我们的目标是 具体目标1：改进和加强对肌肉的纵向、基于人群的监测 北卡罗来纳州皮埃蒙特地区的营养不良症。我们将继续使用MD STARnet方法 对八种主要肌营养不良症进行监测，查阅临床和行政数据，并 提取有关诊断测试、家族病史、神经肌肉症状、心脏和呼吸系统的数据 症状、用药、住院和就诊，以及合并症。我们将扩大我们的关系 与该地区的社区医院和私营医疗机构合作，以加强病例查明和数据获取。 具体目标2：通过开展高优先级活动，促进对肌营养不良症的了解 使用汇集的MD STARnet数据和北卡罗来纳州MD STARnet和管理数据进行研究。我们 将调查非裔美国人和高加索人中的DBMD突变模式，以及 利用汇集的MD STARnet数据对糖尿病患者的心血管危险因素进行研究。我们将与 CDC和其他受赠者在MD STARnet的队列中进行研究。我们建议进行研究 关于女性生育和糖尿病妇女怀孕的项目，以及关于疼痛和疼痛管理的项目 肌营养不良症患者。 具体目标3：与肌营养不良症登记机构建立、维持和扩大伙伴关系， 专业协会、州公共卫生机构以及与疾控中心和其他机构的合作 受赠人。我们将与其他A组分和B组分接受者和疾控中心合作，改善监测 系统，并进行肌肉营养不良症研究。 具体目标4：制定并在可能的情况下试行办法，将下列情况列入 将新生儿筛查纳入MD STARnet监测项目。早期检查是一种自愿的新生儿 由RTI的合作者在北卡罗来纳州进行的筛选项目。该程序提供了一个 北卡罗来纳州有独特的机会开发和试点纳入出生时发现的病例的方法 进入MD STARnet监视方法。

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.