Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- Mayo Clinic
- 入组人数
- 2,000
- 试验地点
- 1
- 主要终点
- Identification of one or more gene mutation responsible for SCAD
研究概览
简要总结
The purpose of the research is to identify mutations (defects in the genetic blueprint) that cause spontaneous coronary artery dissection (SCAD), in other words, spontaneous tears in blood vessels that supply the heart.
Some mutations may be inherited (passed on) from a parent without an apparent blood vessel problem while others may develop for the first time in the affected person.
详细描述
Study question: Do mutations within certain genes cause or confer susceptibility to spontaneous coronary artery dissection (SCAD)?
Specific aims:
- Create a genomic DNA and plasma biobank for individuals diagnosed with SCAD.
- Identify inherited and de novo/new mutations that underlie SCAD.
- Identify common genetic variants that confer risk for SCAD.
Long term objective:Discover molecular and cellular mechanisms of SCAD and develop biomarkers to enable prediction and prevention.
The purpose of the research is to identify mutations (defects in the genetic blueprint) that cause tears in blood vessels that supply the heart. Some mutations may be inherited (passed on) from a parent without an apparent blood vessel problem while others may develop for the first time in the affected person. The study includes individuals diagnosed with spontaneous coronary artery dissection, their biological parents, and relatives with fibromuscular dysplasia, arterial aneurysm, or arterial dissection.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Men and women able to give informed consent and complete a 2 page questionnaire
- •Diagnosis of one or more episodes of spontaneous coronary artery dissection (SCAD)
- •Biological parent of individual with SCAD
- •Relative with fibromuscular dysplasia, arterial aneurysm, or arterial dissection
排除标准
- •Lack of confirmation of SCAD diagnosis
结局指标
主要结局
Identification of one or more gene mutation responsible for SCAD
时间窗: By end of study
Via GWAS and whole exome sequencing
次要结局
未报告次要终点
研究者
Sharonne Hayes
Principal Investigator
Mayo Clinic