Genetic Autopsy and Sudden Death (AGEMOS)
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|ClinicalTrials.gov Identifier: NCT02920203|
Recruitment Status : Unknown
Verified November 2017 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was: Recruiting
First Posted : September 30, 2016
Last Update Posted : November 6, 2017
|Condition or disease||Intervention/treatment|
|Sudden Death||Genetic: Heart and spleen tissue|
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
|Study Type :||Observational|
|Estimated Enrollment :||300 participants|
|Official Title:||Genetic Autopsy and Sudden Death of Young Subject|
|Actual Study Start Date :||October 11, 2017|
|Estimated Primary Completion Date :||September 2020|
|Estimated Study Completion Date :||December 2020|
index cases group
unexpected sudden death cases recruited by forensic institutes or pathology departements
Genetic: Heart and spleen tissue
first degree relatives group
Relatives enrolled of unexpected sudden death index cases
- 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.
- Describe the epidemiology of causes of sudden death [ Time Frame: 27 months ]
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
- Comparison of elucidation rates of cause of sudden death including systematic cardiac screening in relatives [ Time Frame: 39 months ]
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 %.
- Medico-economic modeling of the various diagnostic approaches [ Time Frame: 39 months ]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
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02920203
|Contact: Geoffroy Lorin de la Grandmaison, Pr||+33(0)1 47 10 76 firstname.lastname@example.org|
|Contact: Philippe Charron, MD, PhD||+33 (0)1 42 16 13 email@example.com|
|Raymond Poincaré hospital||Recruiting|
|Garches, France, 92380|
|Contact: Geoffroy Lorin de la Grandmaison, Pr +33(0)1 47 10 76 90 firstname.lastname@example.org|
|Principal Investigator:||Geoffroy Lorin de la Grandmaison, Pr||Assistance Publique Hoptiaux de Paris|
|Study Director:||Philippe Charron, MD, PhD||+33 (0)1 42 16 13 47|