Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 2,000
- 试验地点
- 2
- 主要终点
- Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
研究概览
简要总结
The goal of this study is to obtain specimens and data from individuals and their families with heterotaxy and related congenital heart defects in order to clarify the molecular genetics of this disorder. The knowledge gained from the analysis of this information will provide the basis for future genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right anatomic asymmetry.
详细描述
Heterotaxy syndrome is a rare birth defect that involves the heart and other organs. Many cases are genetic. Fundamental lack of information about the genetic basis of heterotaxy and related congenital heart defects in the vast majority of children has hindered management and therapy. The study outlined in this protocol is designed to obtain information about the causes of heterotaxy and related congenital heart defects. In this study, investigators will perform genetic analyses on patients with heterotaxy and related congenital heart defects, or individuals at risk for these abnormalities. The investigators will collect medical information related to symptoms and disease course. These results will provide important information on the causes, management, and prognosis of heterotaxy and related congenital heart defects.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 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 heterotaxy and related congenital heart defects
- •Family members of subjects with heterotaxy and related congenital heart defects
排除标准
- •Subjects without heterotaxy and related congenital heart defects
- •Family members of subjects without heterotaxy and related congenital heart defects
研究组 & 干预措施
Heterotaxy and congenital heart defects
Patients and family members with heterotaxy and related congenital heart defects
结局指标
主要结局
Clarify Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
时间窗: 8 years
These results will provide important information on the causes, management, and prognosis of heterotaxy and related congenital heart defects. This will provide the basis for future genetic testing and genetic counseling as well as contribute to knowledge about the biology of normal and abnormal development of left-right asymmetry.
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