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: 10220803
• 负责人: Marcia Lynn Feldkamp
• 金额: $ 37.5万
• 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/10220803
• 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.

项目总结/摘要 肌营养不良症是导致进行性肌无力和减少的肌肉疾病。 呼吸和心脏并发症导致的生活质量和死亡率。除了运动、呼吸和 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 在理解上存在重大差距的问题。作为MD STARnet项目的一部分， 所有类型的肌肉萎缩症在犹他州，使用一个独特的资源组合，在我们的国家。这些 资源包括我们在犹他州大学的神经肌肉专科诊所和小学儿童医院。 医院，我们是唯一的肌肉萎缩症专科诊所在山间西部。相关 犹他州大学和Intermountain Healthcare的电子医疗系统 犹他州95%的人口都是如此。一个独特的电子资源，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，包括广泛的谱系，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， 纵向监测合格的肌营养不良症病例，以促进了解 患病率、影响健康和福祉的合并症，并解决认识上的差距，包括 问题的心理和神经行为功能和健康相关的生活质量。这一信息至关重要 用于未来的疾病修饰治疗试验，以及用于检测和护理那些可能不适合的个体， 目前可以享受标准的护理。