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，其特征是进行性肌无力和变性。九种主要类型的肌营养不良症（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。肌营养不良监测跟踪和研究网络（MD STARnet）提供了大量有价值的数据，杜氏和贝克尔MD，但差距仍然存在于我们的知识杜氏和贝克尔MD在少数民族人群。我们将在北卡罗来纳州的皮埃蒙特（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：我们将在北卡罗来纳州的皮埃蒙特地区建立并开展基于人群的MD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。具体目标二：使用目标1的数据，并借鉴我们的经验，分析数据从MD STARnet，我们将描述的患病率和自然史MD和其他神经肌肉疾病在北卡罗来纳州，医疗保健服务的使用和成本的NC居民MD和其他神经肌肉疾病，以及他们获得护理的差距。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一个高度优先事项，因为该项目将是第一个MD STARnet网站之一，其中有大量的非裔美国人。我们还将研究特定临床治疗对特定类型MD和神经肌肉疾病特定结局的影响。具体目标3：利用我们与北卡罗来纳州大学（北卡罗来纳州）和北卡罗来纳州卫生部的长期合作伙伴关系，我们将根据网络的通信和传播计划，在北卡罗来纳州内传播MD STARnet的研究结果。具体目标4：与CDC和其他A & B受赠方合作，我们将（1）确定对MD进行监测的方法和基础设施是否可用于对其他受赠方提出的脊髓性肌萎缩症或神经肌肉疾病进行监测，以及（2）确定对MD和神经肌肉疾病进行基于人群的监测的最有效和最有效的方法。具体目标五：我们将与疾病预防控制中心和其他A & B受资助者就网络任务进行合作，包括（1）修改MD STARnet协议，以纳入与管理数据的链接，（2）确定试点监测的其他神经肌肉状况，（3）制定沟通和传播计划，（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.