Pediatric Cardiomyopathy Mutation Analysis
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 2
- 主要终点
- Elucidate the molecular genetics of cardiomyopathy
研究概览
简要总结
The goal of this protocol is to obtain information from individuals with cardiomyopathy and from their families in order to elucidate the molecular genetics of this disorder. This will provide the basis for future genetic counseling as well as contribute to elucidating the biology of normal and abnormal cardiac function.
详细描述
Cardiomyopathy is a genetically heterogeneous heart muscle disorder that results in ventricular dysfunction. While significant progress has been made in identifying the genetic basis of cardiomyopathy in adults, molecular diagnosis in children has proven more challenging and current algorithms do not incorporate mutation analysis in the clinical protocol. However, recent studies indicate that cardiomyopathy outcomes in children are origin specific, highlighting the importance of precise diagnosis. The goal of this study is to identify the genetic causes of pediatric cardiomyopathy. Rapid, comprehensive and cost-effective detection of genetic causes of cardiomyopathy will aid management and development of novel treatment strategies.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Subjects with cardiomyopathy
- •Family members of subjects with cardiomyopathy
排除标准
- •Subjects without cardiomyopathy
- •Family members of subjects without cardiomyopathy
研究组 & 干预措施
Affected
participants with cardiomyopathy
Family Members of affected
Family members of participants with cardiomyopathy (can be affected or unaffected)
结局指标
主要结局
Elucidate the molecular genetics of cardiomyopathy
时间窗: 7 years
次要结局
未报告次要终点
研究者
Stephanie Ware
Professor of Pediatrics and Medical and Molecular Genetics
Indiana University