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Molecular Autopsy Study

Sponsor
Scripps Translational Science Institute (Other)
Overall Status
Recruiting
CT.gov ID
NCT02168088
Collaborator
(none)
100
Enrollment
1
Location
192
Duration (Months)
0.5
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Anticipated Enrollment :
    100 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Prospective
    Official Title:
    Molecular Autopsy for Sudden Cardiovascular Death
    Study Start Date :
    Jun 1, 2014
    Anticipated Primary Completion Date :
    Jun 1, 2025
    Anticipated Study Completion Date :
    Jun 1, 2030

    Arms and Interventions

    Arm Intervention/Treatment
    Index case

    Subjects who have died of sudden unexplained death
    Biologically related family member

    Biologically related family member of the deceased individual

    Outcome Measures

    Primary Outcome Measures

    1. Heritable causes of sudden death [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.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A to 45 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Scripps Translational Science Institute La Jolla California United States 92037

    Sponsors and Collaborators

    • Scripps Translational Science Institute

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Eric Topol, MD, PI, Director STSI, Scripps Translational Science Institute
    ClinicalTrials.gov Identifier:
    NCT02168088
    Other Study ID Numbers:
    • 14-6386
    First Posted:
    Jun 20, 2014
    Last Update Posted:
    Mar 17, 2021
    Last Verified:
    Mar 1, 2021
    Keywords provided by Eric Topol, MD, PI, Director STSI, Scripps Translational Science Institute
    Sudden unexplained death
    Additional relevant MeSH terms:
    Death

    Study Results

    No Results Posted as of Mar 17, 2021