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Molecular Autopsy Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02168088
Recruitment Status : Recruiting
First Posted : June 20, 2014
Last Update Posted : March 17, 2021
Sponsor:
Information provided by (Responsible Party):
Eric Topol, MD, Scripps Translational Science Institute

Tracking Information
First Submitted Date June 10, 2014
First Posted Date June 20, 2014
Last Update Posted Date March 17, 2021
Study Start Date June 2014
Estimated Primary Completion Date June 2025   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 17, 2014)		 Heritable causes of sudden death [ Time Frame: 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.
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Molecular Autopsy Study
Official Title Molecular Autopsy for Sudden Cardiovascular Death
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.
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood and/or tissue will be collected on the deceased individual. Saliva samples will be collected on family members who have consented to participate.
Sampling Method Non-Probability Sample
Study Population The study population is limited to cases of sudden unexplained death in San Diego County and their living, biologically-related family members.
Condition Sudden Unexplained Death
Intervention Not Provided
Study Groups/Cohorts
  • Index case
    Subjects who have died of sudden unexplained death
  • Biologically related family member
    Biologically related family member of the deceased individual
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: June 17, 2014)		 100
Original Estimated Enrollment Same as current
Estimated Study Completion Date June 2030
Estimated Primary Completion Date June 2025   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: All
Ages up to 45 Years   (Child, Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Sarah Topol, RN 858-784-2155 topol.sarah@scrippshealth.org
Contact: Emily Spencer, Phd 858-784-2029 egspence@scripps.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02168088
Other Study ID Numbers 14-6386
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Eric Topol, MD, Scripps Translational Science Institute
Study Sponsor Scripps Translational Science Institute
Collaborators Not Provided
Investigators Not Provided
PRS Account Scripps Translational Science Institute
Verification Date March 2021