dbGaP Protocol: The Pediatric Cardiac Genetics Consortium (PCGC)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 6,260
- 试验地点
- 1
- 主要终点
- Identification of novel genetic variants associated with a CHD phenotype
研究概览
简要总结
Background:
Researchers do not know much about the causes of congenital heart disease (CHD). They do know that many factors play a role. Some factors are environmental. Some are genetic. But few specific factors have been identified. And researchers do not know how many involve genes. They want to study data that has already been collected from people with CHD and their families.
Objectives:
To identify genetic variations related to CHD. To study molecules related to vascular disease in order to learn new ways to treat it.
Eligibility:
People who already participated in the Pediatric Cardiac Genomics Consortium (PCGC) study
Design:
Researchers will study data that was already collected in the PCGC. There will be no active participants.
Researchers will get access to the data through the coordinating center. They will not download data to local storage devices.
The data will have no personally identifying information....
详细描述
Current understanding of the causes of congenital heart disease (CHD) is limited, but CHD is known to be multifactorial and affected by a combination of environmental, teratogenic, and genetic causes. Furthermore, both genetic and environmental factors have been proposed to act as disease modifiers, accounting for a wide variation in phenotypic expression and clinical outcomes of these disorders. To date however, few specific genetic or environmental causative factors have been identified, nor is it even known what proportion of cases involve genetic factors.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 60 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Identification of novel genetic variants associated with a CHD phenotype
时间窗: Ongoing
de novo variants, SNPs, and CNVs
次要结局
未报告次要终点