Genetic testing for sudden unexplained death cases
Molecular Autopsy for Sudden Cardiovascular Death
Scripps Translational Science Institute · NCT02168088
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 |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | N/A to 45 Years |
| Sex | All |
| Sponsor | Scripps Translational Science Institute (other) |
| Locations | 1 site (La Jolla, California) |
| Trial ID | NCT02168088 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
La Jolla, California
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Sudden Unexplained Death, Sudden unexplained death