Ignite Creation Date:
2025-12-24 @ 7:39 PM
Ignite Modification Date:
2026-01-26 @ 11:36 PM
Study NCT ID:
NCT02920203
Status:
UNKNOWN
Last Update Posted:
2017-11-06
First Post:
2016-09-07
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genetic Autopsy and Sudden Death
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003645', 'term': 'Death, Sudden'}], 'ancestors': [{'id': 'D003643', 'term': 'Death'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Heart and spleen tissue (from autopsy)'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 300}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-10-11', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-11', 'completionDateStruct': {'date': '2020-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2017-11-03', 'studyFirstSubmitDate': '2016-09-07', 'studyFirstSubmitQcDate': '2016-09-28', 'lastUpdatePostDateStruct': {'date': '2017-11-06', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2016-09-30', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2020-09', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Comparison of sudden death elucidation rate obtained by high throughput sequencing (NGS) versus conventional autopsy (macroscopic and / or microscopic)', 'timeFrame': '27 months', 'description': '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.\n\nInclusion of a series of 100 consecutive and exhaustive cases (index cases) recruited by forensic institutes or pathology departements.\n\nDetermine 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.'}], 'secondaryOutcomes': [{'measure': 'Describe the epidemiology of causes of sudden death', 'timeFrame': '27 months', 'description': 'Inclusion of a serie of consecutive and exhaustive subjects recruited by forensic institutes or pathology departements.\n\nDetermination 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.\n\nFrequencies and Clopper-Pearson confidence interval of 95% will be provided'}, {'measure': 'Comparison of elucidation rates of cause of sudden death including systematic cardiac screening in relatives', 'timeFrame': '39 months', 'description': '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:\n\ni) 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 %.'}, {'measure': 'Medico-economic modeling of the various diagnostic approaches', 'timeFrame': '39 months', 'description': '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'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Sudden unexpected death', 'young subjects', 'molecular genetic autopsy', 'sequencing'], 'conditions': ['Sudden Death']}, 'descriptionModule': {'briefSummary': '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', 'detailedDescription': "Monitoring :\n\nFor index cases group, all the data will be monitored. For the relatives group, only the informed consent will be monitored\n\nStatistical analysis :\n\n* Evaluate the additional elucidation rate of unexpected sudden death\n* Evaluate causes obtained by Next Generation Sequencing (NGS) ( in comparison with conventional autopsy (macroscopic and / or microscopic)\n* Descriptive study of the causes of sudden unexpected death, identified hereditary cardiac causes percentages compared via various diagnostic approaches\n* Cost-effectiveness analysis\n\nData Management :\n\nA 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"}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '40 Years', 'minimumAge': '2 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': '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', 'healthyVolunteers': False, 'eligibilityCriteria': 'Index cases :\n\nInclusion Criteria:\n\n* Subjects of more than 2 years old and less than 41 years old\n* Sudden unexpected death from natural and nontraumatic causes\n* Macroscopic autopsy performed within 72 hours after death and without signs of body decomposition\n* No extracardiac obvious causes, including toxicological analysis when available\n* No significant coronary cause after autopsy (such as tight coronary stenosis, congenital abnormality of the arteries, coronary vasculitis)\n* Informed consent of the close relation (family/reliable person) and / or legal representative\n\nRelatives :\n\nInclusion Criteria:\n\n* 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'}, 'identificationModule': {'nctId': 'NCT02920203', 'acronym': 'AGEMOS', 'briefTitle': 'Genetic Autopsy and Sudden Death', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Genetic Autopsy and Sudden Death of Young Subject', 'orgStudyIdInfo': {'id': 'NI 13007'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'index cases group', 'description': 'unexpected sudden death cases recruited by forensic institutes or pathology departements', 'interventionNames': ['Genetic: Heart and spleen tissue']}, {'label': 'first degree relatives group', 'description': 'Relatives enrolled of unexpected sudden death index cases'}], 'interventions': [{'name': 'Heart and spleen tissue', 'type': 'GENETIC', 'description': 'genetic sequencing', 'armGroupLabels': ['index cases group']}]}, 'contactsLocationsModule': {'locations': [{'zip': '92380', 'city': 'Garches', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Geoffroy Lorin de la Grandmaison, Pr', 'role': 'CONTACT', 'email': 'g.lorin@aphp.fr', 'phone': '+33(0)1 47 10 76 90'}], 'facility': 'Raymond Poincaré hospital', 'geoPoint': {'lat': 48.84226, 'lon': 2.18232}}], 'centralContacts': [{'name': 'Geoffroy Lorin de la Grandmaison, Pr', 'role': 'CONTACT', 'email': 'g.lorin@aphp.fr', 'phone': '+33(0)1 47 10 76 90'}, {'name': 'Philippe Charron, MD, PhD', 'role': 'CONTACT', 'email': 'philippe.charron@aphp.fr', 'phone': '+33 (0)1 42 16 13 47'}], 'overallOfficials': [{'name': 'Geoffroy Lorin de la Grandmaison, Pr', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Assistance Publique Hoptiaux de Paris'}, {'name': 'Philippe Charron, MD, PhD', 'role': 'STUDY_DIRECTOR', 'affiliation': '+33 (0)1 42 16 13 47'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'collaborators': [{'name': 'Pathology department and forensic Institute, Raymond Poincaré hospital, Garches', 'class': 'UNKNOWN'}, {'name': 'Referal Center for Inherited cardiac diseases, Pitié Salpêtrière Hospital, Paris', 'class': 'UNKNOWN'}, {'name': 'Pitié-Salpêtrière Hospital', 'class': 'OTHER'}, {'name': 'Clinical research Unit, Ambroise Paré Hospital, Boulogne Billancourt', 'class': 'UNKNOWN'}, {'name': 'Cardiogenetic and molecular and cellular myogenetic functionnal unit Pitié Salpêtrière hospital, Paris', 'class': 'UNKNOWN'}, {'name': 'Molecular and medical Virology Laboratory, Medical School, Reims', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}