Molecular Autopsy Study

NCT ID: NCT02168088

Last Updated: 2025-01-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-06-30

Study Completion Date

2030-06-30

Brief Summary

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

Detailed Description

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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.

Conditions

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Sudden Unexplained Death

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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Index case

Subjects who have died of sudden unexplained death

No interventions assigned to this group

Biologically related family member

Biologically related family member of the deceased individual

No interventions assigned to this group

Eligibility Criteria

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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
Maximum Eligible Age

45 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Scripps Translational Science Institute

OTHER

Sponsor Role lead

Responsible Party

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Eric Topol, MD

PI, Director STSI

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Scripps Translational Science Institute

La Jolla, California, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Sarah Topol, RN

Role: CONTACT

858-784-2155

Emily Spencer, Phd

Role: CONTACT

858-784-2029

Facility Contacts

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Sarah Topol, RN

Role: primary

Emily Spencer, PhD

Role: backup

Other Identifiers

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14-6386

Identifier Type: -

Identifier Source: org_study_id

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