Genetic testing for sudden unexplained death cases
Official title: Molecular Autopsy for Sudden Cardiovascular Death
Run by Scripps Translational Science Institute · NCT02168088 · Data updated 2026-11-12
This study is testing whether genetic testing can help understand the causes of sudden unexplained deaths in people from San Diego County and their families.
Quick facts
| Study type | Observational |
|---|---|
| Ages | Any age to 45 Years |
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Scripps Translational Science Institute Academic / other |
| Locations | 1 site (La Jolla, California) |
| Status | Recruiting |
| Started | June 2014 |
| Main results expected | June 2025 |
| Study ends | June 2030 |
| Registry record updated | January 16, 2025 |
| Trial ID | NCT02168088 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are individuals aged between birth and 45 years who have experienced sudden unexplained death believed to be cardiac in nature or due to a massive unprovoked pulmonary embolism.
✕Probably not a fit
Patients who have died from known chronic medical conditions, external causes such as murder or suicide, or have a history of specific heart diseases will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to integrate genetic testing into postmortem examinations of individuals who have experienced sudden unexplained death, focusing initially on cases in San Diego County. It will assess genetic factors in the deceased and their biological relatives to identify potential heritable causes of sudden death. By leveraging the resources of the San Diego Medical Examiner's Office and advanced genomic analytics, the study seeks to enhance understanding of genetic mechanisms behind sudden death. The ultimate goal is to inform preventative screening programs and develop life-saving interventions based on the findings.
Why it matters
Potential benefit: If successful, this study could lead to the identification of genetic factors that contribute to sudden unexplained death, enabling preventative measures and potentially saving lives.
How similar studies have gone: While the integration of genetic testing in postmortem examinations is a relatively novel approach, similar studies have shown promise in identifying genetic causes of sudden death.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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) Exclusion Criteria: * 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
Where it's running
-
Scripps Translational Science Institute
La Jolla, California, United States Recruiting
Study contacts
- Study coordinator: Sarah Topol, RN
- Email: topol.sarah@scrippshealth.org
- Phone: 858-784-2155
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.