Clinical trial NCT02920203: Genetic Autopsy and Sudden Death
Official title: Genetic Autopsy and Sudden Death of Young Subject
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Sudden Death
Keywords: Sudden unexpected death
young subjects
molecular genetic autopsy
sequencing
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
Collaborators: name: Pathology department and forensic Institute, Raymond Poincaré hospital, Garches
name: Referal Center for Inherited cardiac diseases, Pitié Salpêtrière Hospital, Paris
name: Pitié-Salpêtrière Hospital
name: Clinical research Unit, Ambroise Paré Hospital, Boulogne Billancourt
name: Cardiogenetic and molecular and cellular myogenetic functionnal unit Pitié Salpêtrière hospital, Paris
name: Molecular and medical Virology Laboratory, Medical School, Reims
First posted: 2016-09-30
Enrollment: 300
Sex: ALL
Minimum age (years): 2
Maximum age (years): 40
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Index cases enrolled: series of consecutive and exhaustive cases recruited by forensic institutes or pathology departements Relatives enrolled: as many as possible during the recruitment period

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

Eligibility 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

Primary outcomes:
measure: Comparison of sudden death elucidation rate obtained by high throughput sequencing (NGS) versus conventional autopsy (macroscopic and / or microscopic)
timeFrame: 27 months
Secondary outcomes:
measure: Describe the epidemiology of causes of sudden death
timeFrame: 27 months
measure: Comparison of elucidation rates of cause of sudden death including systematic cardiac screening in relatives
timeFrame: 39 months
measure: Medico-economic modeling of the various diagnostic approaches
timeFrame: 39 months
Other outcomes:
Locations:
city: Garches
country: France
facility: Raymond Poincaré hospital
Study officials:
affiliation: Assistance Publique Hoptiaux de Paris
name: Geoffroy Lorin de la Grandmaison, Pr
role: PRINCIPAL_INVESTIGATOR
affiliation: +33 (0)1 42 16 13 47
name: Philippe Charron, MD, PhD
role: STUDY_DIRECTOR
References: