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Molecular Autopsy in Young Individuals With Sudden Cardiac Death
Sponsor: University of Sao Paulo
Summary
The goal of this observational study is to create and test a pilot workflow for molecular autopsy (genetic testing after death) in children and adults aged 1 to 50 years who died suddenly from an unexplained cause and were examined at the Death Verification Service of the city of São Paulo, Brazil. The main questions it aims to answer are: * How often can a genetic cause of sudden death be found in young people in Brazil? * Can first-degree relatives who carry the same genetic change be identified and referred for heart screening before they have symptoms? Sudden cardiac death in young people is often caused by inherited heart diseases, such as heart rhythm disorders and diseases of the heart muscle. Death may be the first sign of the disease in a family. Most of what is known comes from studies in North America, Europe and Australia, and there are no such data for the Brazilian population. After a family member gives consent, the researchers will: * Interview the family using a verbal autopsy questionnaire and review the autopsy report and death certificate * Collect blood or tissue during the autopsy for genetic testing (whole exome sequencing) * Examine the heart under the microscope When a genetic cause is found, the results will be given to the responsible family member, and first-degree relatives (parents, siblings and children) will be invited to take part. Relatives who agree will give a small blood sample (about 10 mL) to test for the same genetic change. Relatives who carry the change will be referred for heart screening.
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
Key Details
Gender
All
Age Range
5 Years - 50 Years
Study Type
OBSERVATIONAL
Enrollment
200
Start Date
2025-01-08
Completion Date
2028-07
Last Updated
2026-10-05
Healthy Volunteers
No
Conditions
Interventions
Molecular autopsy by whole exome sequencing
Post-mortem genetic testing of index cases using whole exome sequencing of DNA extracted from blood or tissue collected at autopsy, with variant classification according to ACMG criteria. Performed together with a verbal autopsy questionnaire, review of the autopsy report and death certificate, and histopathological analysis of the heart.
Cascade genetic screening by targeted Sanger sequencing
Targeted Sanger sequencing of the variant identified in the index case, using a peripheral blood sample (about 10 mL) from first-degree relatives. Carriers of pathogenic or likely pathogenic variants are referred for clinical cardiovascular screening.
Locations (1)
Heart Institute
São Paulo, São Paulo, Brazil