Genetic Autopsy and Sudden Death (AGEMOS)

Assistance Publique - Hôpitaux de Paris

Status

Unknown

Conditions

Sudden Death

Treatments

Genetic: Heart and spleen tissue

Study type

Observational

Funder types

Other

Identifiers

NCT02920203

NI 13007

Details and patient eligibility

About

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

Full 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

Enrollment

300 estimated patients

Sex

All

Ages

2 to 40 years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

Index cases :

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