Molecular Autopsy Study | NCT02168088

Studies
Molecular Autopsy Study

NCT02168088

Sponsor

Scripps Translational Science Institute

Status

Recruiting

Last Update Posted

Jan 16, 2025Actual

Enrollment

100Estimated

Phase

Not provided

Conditions

Sudden Unexplained Death

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jan 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 2014

Primary Completion Date

Jun 2025Estimated

Completion Date

Jun 2030Estimated

First Submitted Date

Jun 10, 2014

First Submission Date that Met QC Criteria

Jun 17, 2014

First Posted Date

Jun 20, 2014Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 15, 2025

Last Update Posted Date

Jan 16, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

100Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Index case		Subjects who have died of sudden unexplained death
Biologically related family member		Biologically related family member of the deceased individual

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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.	3 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

45 Years

Standard Ages

ChildAdult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Sarah Topol, RN	Contact	858-784-2155		topol.sarah@scrippshealth.org
Emily Spencer, Phd	Contact	858-784-2029		egspence@scripps.edu

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Scripps Translational Science Institute	Recruiting	La Jolla	California	92037	United States