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

摘要 肌营养不良症是一种遗传性神经肌肉疾病，其特征是进行性肌肉萎缩 大约 3,300 人中就有 1 人受到无力和退化的影响。肌营养不良症监测 跟踪和研究网络（MD STARnet）提供九大肌肉的宝贵数据 营养不良 (MD)—杜氏和贝克尔营养不良 (DBMD)、强直性肌营养不良 (DM)、先天性 (CMD)、肢带 (LGMD)、Emery-Dreifuss、面肩肱、远端和眼咽——但知识差距仍然存在， 尤其是对少数民族人口的影响。 RTI International 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 皮埃蒙特（中部）地区的 STARnet。我们的目标是 具体目标 1：完善和加强基于人群的纵向肌肉监测 北卡罗来纳州皮埃蒙特地区的营养不良。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，获取临床和管理数据， 提取有关诊断测试、家族史、神经肌肉症状、心脏和呼吸系统的数据 症状、药物、住院和临床就诊以及合并症。我们将扩大我们的关系 与该地区的社区医院和私营医疗服务提供者合作，以增加病例查明和数据访问。 具体目标 2：通过开展高优先级活动，为有关肌营养不良症的知识做出贡献 使用汇总的 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白种人中的 DBMD 突变模式以及患病率 使用 MD STARnet 汇总数据确定 DM 患者的心血管危险因素。我们将与 CDC 和其他受资助者在基于 MD STARnet 的队列中进行研究。我们提出研究 糖尿病女性生育和怀孕项目以及糖尿病女性疼痛和疼痛管理项目 肌营养不良症患者。 具体目标 3：建立、维持和扩大与肌营养不良症登记处的合作伙伴关系， 专业协会、州公共卫生机构以及与 CDC 和其他机构的合作 受赠者。我们将与其他 A 部分和 B 部分接收者以及 CDC 合作改善监测 系统并进行肌营养不良症研究。 具体目标 4：如果可能的话，制定试点方法以纳入由 将新生儿筛查纳入 MD STARnet 监测项目。早期检查是新生儿自愿的 RTI 的合作者正在北卡罗来纳州开展筛选项目。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 纳入 MD STARnet 监测方法。

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.