Component C - The Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) in Utah

项目概要/摘要 肌营养不良症（MD）是肌肉疾病，导致进行性肌无力，并减少 呼吸和心脏并发症导致的生活质量和死亡率。除了显著的电机， 呼吸和心脏并发症，受影响的个人和家庭有社会，心理， 认知问题，这些问题还没有得到很好的理解。对于MD STARnet项目， 包括：Duchenne和Becker肌营养不良（DBMD），远端，Emery-Dreifuss，肢带， 眼咽、先天性、肌强直性营养不良和面肩肱营养不良。近期发展 以及实施DBMD和其他神经肌肉疾病的标准化护理指南， 预期可改善临床结局;然而，已发表的证据仍然有限。新兴 这些疾病的治疗选择是实现改善的希望和机会的来源。 结果;然而，更好地了解这些疾病的严重程度和目前的护理负担， 疾病是这些举措取得成功的关键。犹他州大学医学博士STARnet团队已经 在当前供资周期（DD 001108：2014年9月1日至2019年8月31日）内积极开展活动，并处于独特的位置， 作为C部分的一部分进行研究。作为组成部分A的一部分，我们与地方和国家 神经肌肉基础对于确定我们的研究可以回答的问题非常重要， 来弥补知识上的差距。至于组成部分C，我们将侧重于 融资机会公告，总体目标是继续我们现有的项目， 使用MD STARnet数据的研究项目。此外，我们计划进行调查， 心理和神经行为功能，以及健康相关的生活质量与MD患者。我们将 通过在当地、国家和国际专业协会的演讲传播我们的研究结果 会议，并向同行评审的期刊提交手稿。我们现有项目的优势和资源 将增加对这些人面临的医疗问题和护理障碍的了解，并提高我们的 为我们的患者提供更稳定的优质护理。此外，我们建议该项目将 使我们能够评估实施标准化护理指南对临床结局和成本的影响 对这样的患者进行护理。我们将分析MD STARnet研究中解决的高优先级问题 议程（目标1），确定更多的理解差距，重点是心理和神经行为 合并症和健康相关生活质量（目标2），并为其他MD提供二级分析师支持 STARnet网站至少有三个研究项目（目标3）。

PROJECT SUMMARY/ABSTRACT The muscular dystrophies (MD) are disorders of muscle leading to progressive muscle weakness, and reduced quality of life and mortality due to respiratory and cardiac complications. In addition to significant motor, respiratory, and cardiac complications, affected individuals and families have social, psychological, and cognitive issues which are not well understood. For the MD STARnet project, nine muscular dystrophies are included: Duchenne and Becker muscular dystrophy (DBMD), distal, Emery-Dreifuss, limb-girdle, oculopharyngeal, congenital, myotonic dystrophy, and facioscapulohumeral dystrophy. Recent development and implementation of standardized care guidelines for DBMD, and other neuromuscular conditions are expected to result in improved clinical outcomes; however, published evidence remains limited. Emerging therapeutic options for these disorders are a source of great hope and opportunity for realizing improved outcomes; however, a better understanding of the range of disease severity and current care burden in these disorders is critical to the success of such initiatives. The University of Utah MD STARnet team has been active during the current funding cycle (DD001108: 9/1/2014-8/31/2019) and is uniquely situated to continue to conduct research as part of Component C. As part of Component A, our engagement with local and national neuromuscular foundations has been important to determine questions that our research can answer in order to address gaps in knowledge. For Component C, we will focus on the objectives and approach outlined in the funding opportunity announcement with an overall goal to continue our existing projects with proposed new research projects using MD STARnet data. Furthermore, we plan to conduct surveys to evaluate the psychological and neurobehavioral function, and health-related quality of life in patients with MDs. We will disseminate our findings through local, national, and international presentations at professional society meetings and submit manuscripts to peer-reviewed journals. Our existing program’s strengths and resources will increase knowledge of the medical issues and barriers to care facing these individuals, and enhance our ability to provide more consistent quality care to our patients. Furthermore, we propose that this project will allow us to assess the impact of implementation of standardized care guidelines on clinical outcomes and cost of care for such patients. We will analyze high-priority questions addressed in the MD STARnet Research Agenda (Aim 1), identify additional gaps in understanding with a focus on psychological and neurobehavioral comorbidities and health-related quality of life (Aim 2), and provide secondary analyst support for other MD STARnet sites on a minimum of three research projects (Aim 3).