Molecular Autopsy Study

Scripps Translational Science Institute100 enrolled

Overview

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

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

100

Conditions

Sudden Unexplained Death

Eligibility

Sex: ALLMax age: 45 Years

Medical Language ↔ Plain English

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

Locations (1)

Scripps Translational Science Institute

La Jolla, California, United States

RECRUITING

Outcomes

Primary Outcomes

Heritable causes of sudden death

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.

Time frame: 3 years

Central Contacts

Sarah Topol, RN

CONTACT

858-784-2155 topol.sarah@scrippshealth.org

Emily Spencer, Phd

CONTACT

858-784-2029 egspence@scripps.edu

Data from ClinicalTrials.gov

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