Comp B-Surveillance and Res of MD and Neuromuscular Disorders

描述（由申请人提供）：肌营养不良症是一组广泛的异质性遗传神经肌肉疾病，其特征是进行性肌肉无力和变性。九种主要类型的肌肉萎缩症（MD）因发病年龄、受影响的肌肉群、涉及的基因、严重程度和疾病进展而异。肌萎缩症监测跟踪和研究网络（MD STARnet）提供了大量关于Duchenne和Becker MD的有价值的数据，但我们对少数人群Duchenne和Becker MD的了解仍然存在差距。我们将在北卡罗莱纳州皮埃蒙特（中部）地区建立一个新的核心MD监测项目。该州超过50%的居民居住在皮埃蒙特（530万），其中24.7%是非洲裔美国人（约130万）。具体目标如下：具体目标1：我们将在北卡罗莱纳州皮埃蒙特地区建立并开展以人群为基础的MDs和其他神经肌肉疾病监测和纵向随访。我们将使用MD STARnet方法。具体目标2：利用目标1的数据和MD STARnet的数据分析经验，我们将描述北卡罗来纳州MD和其他神经肌肉疾病的患病率和自然历史，北卡罗来纳州MD和其他神经肌肉疾病居民的医疗服务使用和成本，以及他们获得医疗服务的差异。我们将通过接近护理来源、种族、民族和社会经济地位来检查差异，但检查种族差异将是重中之重，因为该项目将是第一个具有大量非裔美国人代表的MD STARnet网站之一。我们还将研究特定临床治疗对特定类型MD和神经肌肉疾病的特定结果的影响。具体目标3：利用我们与北卡罗来纳大学（UNC）和北卡罗来纳卫生部的长期合作伙伴关系，北卡罗来纳大学与社区神经学家的关系，以及新的合作伙伴关系，我们将根据网络的通信和传播计划在北卡罗来纳传播MD STARnet的研究结果。具体目标4：通过与CDC和其他A & B受资助方合作，我们将(1)确定MD监测的方法和基础设施是否可用于其他受资助方提出的脊髓性肌萎缩症或神经肌肉疾病的监测，以及(2)确定最有效和最有效的方法来进行MD和神经肌肉疾病的基于人群的监测。具体目标5：我们将与CDC和其他a&b受资助者合作完成网络任务，包括(1)修改MD STARnet协议以纳入与行政数据的联系，(2)确定试点监测的其他神经肌肉疾病，(3)制定通信和传播计划，(4)制定评估计划，以及(5)参与指导委员会。

DESCRIPTION (provided by applicant): The muscular dystrophies re an extensive group of heterogeneous genetic neuromuscular conditions characterized by progressive muscle weakness and degeneration. The nine major types of muscular dystrophy (MD) vary by age of onset, muscle groups affected, genes involved, severity, and progression of disease. The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) has provided a large amount of valuable data on Duchenne and Becker MD, but gaps still exist in our knowledge of Duchenne and Becker MDs in minority populations. We will establish a new Core MD surveillance project in North Carolina's Piedmont (central) region. More than 50% of the state's residents live in the Piedmont (5.3 million), of whom 24.7% are African American (approximately 1.3 million). The specific aims are as follows: Specific Aim 1: We will establish and conduct population-based surveillance and longitudinal follow-up for MDs and other neuromuscular disorders in the Piedmont region of North Carolina. We will use the MD STARnet methodology. Specific Aim 2: Using data from Aim 1 and drawing on our experience analyzing data from MD STARnet, we will describe the prevalence and natural history of MD and other neuromuscular disorders in North Carolina, the health care service use and costs of NC residents with MD and other neuromuscular disorders, and disparities in their access to care. We will examine disparities by proximity to source of care, race, ethnicity, and SES, but examining racial disparities will be a high priority, as this project will be one of the first MD STARnet sites with substantial representation of African Americans. We will also examine the impact of specific clinical treatments on specific outcomes for specific types of MD and neuromuscular disorders. Specific Aim 3: Using our long-standing partnership with the University of North Carolina (UNC) and the North Carolina Department of Health, UNC's relationships with community neurologists, and new partnerships we will disseminate findings from MD STARnet within North Carolina in accordance with the Network's communications and dissemination plans. Specific Aim 4: In collaboration with CDC and other A & B grantees, we will (1) determine if methods and infrastructure for conducting surveillance for MDs can be used to conduct surveillance for spinal muscular atrophy or neuromuscular disorders proposed by other grantees, and (2) determine the most efficient and effective methods to conduct population-based surveillance for MD and neuromuscular disorders. Specific Aim 5: We will collaborate with CDC and other A & B grantees on Network tasks, including (1) modifying the MD STARnet protocol to incorporate linkage to administrative data, (2) determining other neuromuscular conditions for pilot surveillance, (3) developing communications and dissemination plans, (4) developing evaluation plan, and (5) participating in the steering committee.