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

组件 A - 犹他州肌营养不良症监测、跟踪和研究网络 (MD STARnet)

• 批准号: 10441107
• 负责人: Marcia Lynn Feldkamp
• 金额: $ 41.5万
• 依托单位: UNIVERSITY OF UTAH
• 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/10441107
• 关键词: Component; Muscular; Dystrophy; Surveillance; Tracking

PROJECT SUMMARY/ABSTRACT The muscular dystrophies 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 motor, respiratory, and cardiac complications, affected individuals and families have significant social, psychological, and cognitive issues that are major gaps in understanding. As part of the MD STARnet project, we have identified cases of all muscular dystrophy types in Utah, using a combination of unique resources available in our state. These resources include our neuromuscular subspecialty clinics at the University of Utah and Primary Children’s Hospital where we are the only muscular dystrophy specialty clinics in the intermountain west. Relevant electronic health systems from the University of Utah and Intermountain Healthcare capture health care encounters for the majority 95% of the Utah population. A unique electronic resource, the Utah Population Database, links all individuals in Utah to multiple data sources, including extensive pedigrees, hospital records, death certificates, birth certificates, ambulatory care and emergency room visits, and the Utah cancer registry. The proposed project focuses on continuing our surveillance efforts using these resources and enhancing our longitudinal surveillance for eligible muscular dystrophy cases in order to contribute to the understanding of prevalence, comorbidities impacting health and well-being, and to address gaps in understanding including issues psychological and neurobehavioral function and health-related quality of life. This information is critical for future disease modifying therapeutic trials, and for the detection and care of those individuals who may not currently have access to the standard of care.

项目概要/摘要 肌营养不良症是导致进行性肌肉无力并减少的肌肉疾病。 呼吸系统和心脏并发症导致的生活质量和死亡率。除了运动、呼吸、 心脏并发症，受影响的个人和家庭有显着的社会，心理和认知 是理解上存在重大差距的问题。作为 MD STARnet 项目的一部分，我们已经确定了以下案例 结合了本州现有的独特资源，治疗犹他州所有类型的肌营养不良症。这些 资源包括我们在犹他大学和小学儿童医院的神经肌肉专科诊所 我们的医院是西部山间唯一的肌营养不良症专科诊所。相关的 犹他大学和 Intermountain Healthcare 的电子医疗系统捕获医疗保健信息 犹他州 95% 的人口都会遇到这种情况。独特的电子资源，犹他州人口 数据库将犹他州的所有个人链接到多个数据源，包括广泛的家谱、医院记录、 死亡证明、出生证明、门诊护理和急诊室就诊以及犹他州癌症登记处。 拟议项目的重点是利用这些资源继续我们的监测工作并增强我们的能力 对符合条件的肌营养不良症病例进行纵向监测，以有助于了解 患病率、影响健康和福祉的合并症，并解决理解上的差距，包括 问题心理和神经行为功能以及与健康相关的生活质量。此信息至关重要 用于未来的疾病修饰治疗试验，以及对那些可能无法进行治疗的个体进行检测和护理 目前可以获得标准护理。