Molecular autopsy to find genetic causes of sudden death in young people
Official title: Molecular Autopsy in Young Individuals With Unexplained Sudden Cardiovascular Death: a Pilot Workflow at the São Paulo Death Verification Service With Cascade Genetic Screening of First-degree Relatives
Run by University of Sao Paulo · NCT07849738 · Data updated 2026-11-12
This study tests a post-m death genetic workflow to see if a genetic cause can be found in people aged 1–50 who died suddenly and to identify relatives who may need heart screening.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 5 Years to 50 Years |
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | University of Sao Paulo Academic / other |
| Locations | 1 site (São Paulo, São Paulo) |
| Status | Recruiting |
| Started | January 8, 2025 |
| Main results expected | January 2028 |
| Study ends | July 2028 |
| Registry record updated | October 5, 2026 |
| Trial ID | NCT07849738 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are index cases aged 1–50 years who died suddenly from unexplained causes and had an autopsy performed at SVOC-USP, with eligible family members willing to consent.
✕Probably not a fit
Individuals without a detectable genetic variant or without willing or available relatives for cascade screening may not benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study will implement a pilot workflow for molecular autopsy in São Paulo, Brazil, involving autopsy samples from index cases and cascade screening of first-degree relatives. Whole exome sequencing will be used to identify pathogenic variants related to inherited cardiac diseases, with confirmatory targeted tests for relatives. Informed consent is obtained from a legally responsible family member, and data from autopsies, genetic analyses, and family interviews are collected to determine diagnostic yield and potential cascade screening opportunities. The study aims to provide Brazil-specific data on the frequency of genetic causes of sudden death in the young and to assess feasibility of referral and screening for at-risk relatives.
Why it matters
Potential benefit: If successful, the study could help families understand the cause of sudden death and enable early screening for relatives at risk.
How similar studies have gone: Previous molecular autopsy studies have shown diagnostic yield in various populations; data for the Brazilian population are limited, making this study relatively novel in this setting.
Who can join: the full rules
Show full inclusion / exclusion criteria
Index cases Inclusion Criteria: * Male or female, aged 1 to 50 years at the time of death * Unexplained sudden death, defined as an unexpected, non-traumatic death occurring within 1 hour of symptom onset in an apparently healthy individual or, if unwitnessed, within 24 hours of the individual last being seen alive and asymptomatic * Autopsy performed at the Death Verification Service of the City of São Paulo (SVOC-USP) * Informed consent provided by the legally responsible family member Exclusion Criteria: \- Suspected death from intoxication by toxic substances First-degree relatives Inclusion Criteria: * First-degree relative (parent, sibling or child) of an index case in whom a pathogenic or likely pathogenic variant associated with inherited cardiac disease was identified * Informed consent provided by the participant or, when applicable, by a legal representative
Where it's running
-
Heart Institute
São Paulo, São Paulo, Brazil Recruiting
Study contacts
- Study coordinator: Luciana Sacilotto, MD, PhD
- Email: lu.sacilotto@gmail.com
- Phone: 551126615342
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.