Genetic Autopsy and Sudden Death of Young Subject
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Sudden Death
- Sponsor
- Assistance Publique - Hôpitaux de Paris
- Enrollment
- 300
- Locations
- 1
- Primary Endpoint
- Comparison of sudden death elucidation rate obtained by high throughput sequencing (NGS) versus conventional autopsy (macroscopic and / or microscopic)
- Last Updated
- 8 years ago
Overview
Brief Summary
The purpose of the study is to better identify hereditary cardiac causes of sudden unexpected death in young subjects through Next-Generation Sequencing of autopsy tissue
Detailed Description
Monitoring : For index cases group, all the data will be monitored. For the relatives group, only the informed consent will be monitored Statistical analysis : * Evaluate the additional elucidation rate of unexpected sudden death * Evaluate causes obtained by Next Generation Sequencing (NGS) ( in comparison with conventional autopsy (macroscopic and / or microscopic) * Descriptive study of the causes of sudden unexpected death, identified hereditary cardiac causes percentages compared via various diagnostic approaches * Cost-effectiveness analysis Data Management : A database is created for the AGEMOS study with control of the discrepancies. All the index cases' data entered in the data base will be double checked
Investigators
Eligibility Criteria
Inclusion Criteria
- •Subjects of more than 2 years old and less than 41 years old
- •Sudden unexpected death from natural and nontraumatic causes
- •Macroscopic autopsy performed within 72 hours after death and without signs of body decomposition
- •No extracardiac obvious causes, including toxicological analysis when available
- •No significant coronary cause after autopsy (such as tight coronary stenosis, congenital abnormality of the arteries, coronary vasculitis)
- •Informed consent of the close relation (family/reliable person) and / or legal representative
- •Relatives :
- •Inclusion Criteria:
- •To be a first degree relative (parents, sister, brother, child) of a deceased subject included in the AGEMOS study and accept to perform medical examination and transmit results of examination
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Comparison of sudden death elucidation rate obtained by high throughput sequencing (NGS) versus conventional autopsy (macroscopic and / or microscopic)
Time Frame: 27 months
Aim is to determine if elucidation rate of unexpected sudden death causes obtained by high throughput sequencing (NGS) is significantly better than conventional autopsy (macroscopic and / or microscopic) alone. Inclusion of a series of 100 consecutive and exhaustive cases (index cases) recruited by forensic institutes or pathology departements. Determine the rate of sudden death elucidation after NGS (after targeted capturing of 100 genes responsible for inherited cardiac diseases, including cardiomyopathy and electrical diseases) and comparison of sudden death elucidation rate obtained with conventional autopsy (macroscopic and microscopic) by chi 2 analysis.
Secondary Outcomes
- Comparison of elucidation rates of cause of sudden death including systematic cardiac screening in relatives(39 months)
- Describe the epidemiology of causes of sudden death(27 months)
- Medico-economic modeling of the various diagnostic approaches(39 months)