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| Name | Class |
|---|---|
| Pathology department and forensic Institute, Raymond Poincaré hospital, Garches | UNKNOWN |
| PitiĂ©-SalpĂªtrière Hospital | OTHER |
| Clinical research Unit, Ambroise Paré Hospital, Boulogne Billancourt | UNKNOWN |
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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
Monitoring :
For index cases group, all the data will be monitored. For the relatives group, only the informed consent will be monitored
Statistical 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
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| index cases group | unexpected sudden death cases recruited by forensic institutes or pathology departements |
| |
| first degree relatives group | Relatives enrolled of unexpected sudden death index cases |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Heart and spleen tissue | Genetic | genetic sequencing |
|
| Measure | Description | Time Frame |
|---|---|---|
| Comparison of sudden death elucidation rate obtained by high throughput sequencing (NGS) versus conventional autopsy (macroscopic and / or microscopic) | 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. | 27 months |
| Measure | Description | Time Frame |
|---|---|---|
| Describe the epidemiology of causes of sudden death | Inclusion of a serie of consecutive and exhaustive subjects recruited by forensic institutes or pathology departements. Determination all the causes of death after conventional autopsy (unnatural, toxicological, non-cardiovascular, vascular, cardiological and coronary, cardiological and non-coronary causes such as cardiomyopathies & myocarditis, no cause identified Descriptive analysis. All quantitative data will be analyzed with the average, standard deviation and median. Frequencies and Clopper-Pearson confidence interval of 95% will be provided |
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Index cases :
Inclusion Criteria:
Relatives :
Inclusion Criteria:
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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
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Geoffroy Lorin de la Grandmaison, Pr | Contact | +33(0)1 47 10 76 90 | g.lorin@aphp.fr | |
| Philippe Charron, MD, PhD | Contact | +33 (0)1 42 16 13 47 | philippe.charron@aphp.fr |
| Name | Affiliation | Role |
|---|---|---|
| Geoffroy Lorin de la Grandmaison, Pr | Assistance Publique Hoptiaux de Paris | Principal Investigator |
| Philippe Charron, MD, PhD | +33 (0)1 42 16 13 47 | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Raymond Poincaré hospital | Recruiting | Garches | 92380 | France |
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| ID | Term |
|---|---|
| D003645 | Death, Sudden |
| ID | Term |
|---|---|
| D003643 | Death |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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| Molecular and medical Virology Laboratory, Medical School, Reims | UNKNOWN |
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Heart and spleen tissue (from autopsy)
| 27 months |
| Comparison of elucidation rates of cause of sudden death including systematic cardiac screening in relatives | Aim is to determine the impact of systematic family cardiac screening in the understanding of sudden deaths Comparison of elucidation rates of cause of sudden death according to three methods: i) identification of a hereditary heart disease via the systematic cardiac screening performed in relative; ii) by the conventional autopsy; iii) by sequencing NGS analysis; Statistics: test of McNemar (mated series). The threshold for level of statistical significance is chosen at 5 %. | 39 months |
| Medico-economic modeling of the various diagnostic approaches | Cost-effectiveness modeling evaluation of medical and economic impact of the genetic molecular autopsy, efficacy being estimated by years of life saved in the family | 39 months |