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

肌营养不良症监测、跟踪和研究网络 (MD STARnet)：A 部分 - 核心当前站点

• 批准号: 10220732
• 负责人: Nedra Sharon Whitehead
• 金额: $ 37.49万
• 依托单位: RESEARCH TRIANGLE INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10220732
• 关键词: Muscular; Dystrophy; Surveillance; Tracking; Research

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.

摘要 肌营养不良是一种遗传性神经肌肉疾病， 虚弱和退化，影响约3,300人中的1人。肌营养不良症监测 跟踪和研究网络（MD STARnet）提供了关于九个主要肌肉组织的有价值的数据。 营养不良（MD）-Duchenne和Becker（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， 特别是对少数民族的影响。RTI国际和北卡罗来纳州大学， 北卡罗来纳州卫生与公众服务部的合作，进行北卡罗来纳州医学博士 皮埃蒙特（中部）地区的STARnet。我们的目标是 具体目标1：完善和加强对肌肉萎缩症的纵向、基于人群的监测 在北卡罗来纳州的皮埃蒙特地区的营养不良。我们将继续使用MD STARnet方法 对八种主要的肌营养不良症进行监测，获取诊所和行政数据， 提取诊断测试、家族史、神经肌肉症状、心脏和呼吸系统疾病 症状、药物、住院和临床访视以及合并症。我们将扩大我们的关系 与该地区的社区医院和私人提供者合作，以增加病例确定和数据访问。 具体目标2：通过开展高优先级的肌肉萎缩症知识 研究使用汇集的MD STARnet数据和北卡罗来纳州MD STARnet和管理数据。我们 将调查非裔美国人和高加索人中的DBMD突变模式以及 使用MD STARnet汇总数据分析糖尿病患者的心血管危险因素。我们将与 疾病预防控制中心和其他受赠方在MD STARnet队列中进行研究。我们建议研究 关于糖尿病妇女生育和怀孕以及糖尿病妇女疼痛和疼痛管理的项目 肌肉萎缩症患者。 具体目标3：建立、维护和扩展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 受赠人。我们将与其他A和B部分的接受者和CDC合作，改善监测 系统和进行肌肉萎缩症研究。 具体目标4：制定并在可能的情况下试行纳入 新生儿筛查纳入MD STARnet监测项目。早期检查是一个自愿的新生儿 由RTI的合作者在北卡罗来纳州进行的筛查项目。该程序提供了 北卡罗来纳州有一个独特的机会，可以制定和试点纳入出生时确定的病例的方法 MD STARnet监控方法的一部分