Molecular Autopsy Study

Scripps Translational Science Institute

Status

Enrolling

Conditions

Sudden Unexplained Death

Study type

Observational

Funder types

Other

Identifiers

NCT02168088

14-6386

Details and patient eligibility

About

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

Full 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.

Enrollment

100 estimated patients

Sex

All

Ages

Under 45 years old

Volunteers

No Healthy Volunteers

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