Molecular Autopsy for Sudden Cardiovascular Death
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Heritable causes of sudden death
研究概览
简要总结
This study seeks to incorporate genetic testing into the postmortem examination of cases of sudden unexplained death.
详细描述
This study seeks to incorporate genetic testing into the postmortem examination of cases of sudden unexplained death, initially in San Diego County with plans to expand nationally and internationally as funding allows. Genetic testing of the index subjects and their parents (or other biological family members if parents are not available) will be assessed for potential heritable causes of sudden death. By combining the wide catchment base of the San Diego Medical Examiner's Office, sequencing expertise of SD-based collaborators, computing power of the San Diego Supercomputer Center and in-house and external genomic analytics, the Scripps Translational Science Institute aims to provide a more complete characterization and understanding of the genetic causes of sudden death. Ultimately, findings from this study will be utilized to identify previously unrecognized mechanism of sudden death allowing for the development of preventative screening programs and potentially life-saving interventions.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 45 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Index case age between birth - 45 years
- •Clinical presentation of sudden / unexplained death (believed to be cardiac in nature OR secondary to a massive unprovoked pulmonary embolism with no prior diagnosis of prothrombotic disease)
排除标准
- •Premature death secondary to murder, suicide or external causal event
- •Premature death thought secondary to known chronic comorbid medical condition
- •Premature death thought secondary to end-organ failure (kidney, liver, lung) other than heart
- •Previously diagnosed with hypertrophic cardiomyopathy (HCM)
- •Prior myocardial infarction (regardless of stenting or bypass)
- •Prior cerebrovascular accident (stroke or TIA)
- •History of open heart surgery (for any reason)
- •History of severe, untreated hypertensive heart disease
- •History of illicit drug use
- •History of heavy alcohol abuse
- •History of severe pulmonary disease
- •History of morbid obesity
结局指标
主要结局
Heritable causes of sudden death
时间窗: 3 years
The primary endpoint for this study is the discovery of genomic information that may help identify a potential cause of death in the index case. This information may inform living, biologically related family members of their potential risk and need for further genomic analysis.
次要结局
未报告次要终点
研究者
Eric Topol, MD
PI, Director STSI
Scripps Translational Science Institute