Molecular Autopsy Study

January 15, 2025 updated by: Eric Topol, MD, Scripps Translational Science Institute

Molecular Autopsy for Sudden Cardiovascular Death

This study seeks to incorporate genetic testing into the postmortem examination of cases of sudden unexplained death.

Study Overview

Status

Recruiting

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 45 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The study population is limited to cases of sudden unexplained death in San Diego County and their living, biologically-related family members.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Index case
Subjects who have died of sudden unexplained death
Biologically related family member
Biologically related family member of the deceased individual

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Heritable causes of sudden death
Time Frame: 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.
3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Scripps Translational Science Institute

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2014

Primary Completion (Estimated)

June 1, 2025

Study Completion (Estimated)

June 1, 2030

Study Registration Dates

First Submitted

June 10, 2014

First Submitted That Met QC Criteria

June 17, 2014

First Posted (Estimated)

June 20, 2014

Study Record Updates

Last Update Posted (Actual)

March 25, 2025

Last Update Submitted That Met QC Criteria

January 15, 2025

Last Verified

January 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 14-6386

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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