Ignite Creation Date:
2025-12-25 @ 2:54 AM
Ignite Modification Date:
2026-01-03 @ 12:28 AM
Study NCT ID:
NCT06244433
Status:
RECRUITING
Last Update Posted:
2025-01-31
First Post:
2024-01-25
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D013398', 'term': 'Sudden Infant Death'}], 'ancestors': [{'id': 'D003645', 'term': 'Death, Sudden'}, {'id': 'D003643', 'term': 'Death'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D066088', 'term': 'Infant Death'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D000073336', 'term': 'Whole Genome Sequencing'}], 'ancestors': [{'id': 'D017422', 'term': 'Sequence Analysis, DNA'}, {'id': 'D017421', 'term': 'Sequence Analysis'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'blood and DNA samples'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 650}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2024-08-27', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-09', 'completionDateStruct': {'date': '2027-10', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-01-29', 'studyFirstSubmitDate': '2024-01-25', 'studyFirstSubmitQcDate': '2024-02-05', 'lastUpdatePostDateStruct': {'date': '2025-01-31', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-02-06', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-08', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identification of genetic variants', 'timeFrame': 'up to 38 months', 'description': 'Presence of de novo genetic point mutations in coding and non-coding sequences, based on analysis of family trios using a whole-genome sequencing approach'}], 'secondaryOutcomes': [{'measure': 'Identification of heterozygous variants or CNVs (copy number variants)', 'timeFrame': 'up to 38 months', 'description': 'Presence of composite heterozygous variants or CNVs (copy number variants) in the coding and non-coding sequences of the MSN propositus genome'}, {'measure': 'Identification of new genotype - phenotype correlations', 'timeFrame': 'up to 38 months', 'description': 'Presence of new correlations between identified genetic variants and clinical and biological characteristics identified'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Sudden Infant Death', 'Sudden Unexplained Infant Death']}, 'referencesModule': {'references': [{'pmid': '40738637', 'type': 'DERIVED', 'citation': 'Ducloyer M, Baruteau AE, Franco P, Guyon A, Sapin V, Karakachoff M, Savall F, Schott JJ, de Pontual L, De Visme S, Ferrand L, Jarry B, Beudin D, Scherdel P, Lorton F. Identification of novel genetic, neurobiological and radio-anatomical biomarkers for risk stratification of sudden unexpected death in infancy and early childhood: the BIOMINRISK study protocol. BMJ Open. 2025 Jul 30;15(7):e101811. doi: 10.1136/bmjopen-2025-101811.'}]}, 'descriptionModule': {'briefSummary': 'This is a multicenter genetic study aimed at identifying new genes/variants associated with sudden infant death syndrome (SIDS) based on whole-genome sequencing of family trios', 'detailedDescription': 'The present project is part of a more global project called BIOMINRISK for which 3 axes will be explored: Genetics (a project which will be detailed here), Neurobiology and Radio-anatomical.\n\nThis is a multicenter (15 centers), national, non-randomized, open-label, genetic study. Sudden unexpected death in infant (SUDI) cases will be included (i) partly retrospectively (infants already included in the national French SUDI registry) and (ii) for the other cases, prospectively at the time of care of the deceased infant by the referral center of SUDI participating in the project. The parents making up the trios will be included prospectively.\n\nOnce the Sudden infant death syndrome (SIDS) cases have been identified among all the included SUDI cases (following the results of post-mortem examinations), Whole Genome Sequencing (WGS) will be carried out on these SIDS cases and their two parents, in order to identify pathogenic allelic variants. The data generated by this sequencing will then be analyzed using a trio approach to search for de novo variants, i.e. variants present in the infant who died of SIDS and absent from the genome of both parents.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'The population included will consist of infants who died in the context of SUDI and both their parents. These cases of SUDI will come from the French SUDI registry, which records all cases of SUDI occurring in children under 2 years of age throughout France via a network of referral centers for the management of SUDI.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Child Inclusion Criteria\n\n* Death of a child between 0 and 2 years of age due to sudden unexpected death in infant\n* Child included in the French SUDI registry with effective participation in the biocollection\n* Children who also meet the inclusion criteria for the BIOMINRISK-NEUROBIO (axis 2) and BIOMINRISK-RADIO-ANAT (axis 3) studies in the overall BIOMINRISK project.\n\nParents Inclusion Criteria\n\n* Biological parents of the child included in the BIOMINRISK study\n* Parents who have both signed the consent form for blood collection and inclusion of their samples in the biocollection\n* parents beneficiaries of a social security or similar scheme\n\nChild Exclusion Criteria:\n\n* Presence of a known metabolic, genetic or syndromic pathology at the time of death\n\nParents Exclusion Crtiteria:\n\n* Parent under guardianship\n* Presence of a known metabolic, genetic or syndromic pathology'}, 'identificationModule': {'nctId': 'NCT06244433', 'acronym': 'BIOMINRISK', 'briefTitle': 'Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'Nantes University Hospital'}, 'officialTitle': 'Risk Stratification of Sudden Unexpected Death in Infant Based on Biomarkers - Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome', 'orgStudyIdInfo': {'id': 'RC23_0260'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'SUDI cases', 'description': 'Sudden unexpected death in infant (SUDI) cases registered within the French National Registry of SUDI', 'interventionNames': ['Genetic: whole genome sequencing']}, {'label': 'Parents', 'description': 'Both parents of identified SUDI', 'interventionNames': ['Genetic: whole genome sequencing']}], 'interventions': [{'name': 'whole genome sequencing', 'type': 'GENETIC', 'description': 'Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants', 'armGroupLabels': ['Parents', 'SUDI cases']}]}, 'contactsLocationsModule': {'locations': [{'zip': '44093', 'city': 'Nantes', 'state': 'Loire-Atlantique', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Fleur Lorton', 'role': 'CONTACT', 'email': 'Fleur.LORTON@chu-nantes.fr', 'phone': '+330240083806'}], 'facility': 'Nantes University Hospital', 'geoPoint': {'lat': 47.21725, 'lon': -1.55336}}, {'city': 'Amiens', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Coralie Degorre', 'role': 'CONTACT'}], 'facility': 'CHU Amiens', 'geoPoint': {'lat': 49.9, 'lon': 2.3}}, {'city': 'Angers', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Estelle Darviot', 'role': 'CONTACT'}], 'facility': 'CHU Angers', 'geoPoint': {'lat': 47.47156, 'lon': -0.55202}}, {'city': 'Besançon', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Clémence Mougey', 'role': 'CONTACT'}], 'facility': 'CHU Besançon', 'geoPoint': {'lat': 47.24878, 'lon': 6.01815}}, {'city': 'Bondy', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Loïc de Pontual', 'role': 'CONTACT'}], 'facility': 'APHP - Hôpital Jean Verdier', 'geoPoint': {'lat': 48.9018, 'lon': 2.48931}}, {'city': 'Brest', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Mathilde Granjon', 'role': 'CONTACT'}], 'facility': 'CHU Brest', 'geoPoint': {'lat': 48.39029, 'lon': -4.48628}}, {'city': 'Clamart', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Gilles Jourdain', 'role': 'CONTACT'}], 'facility': 'APHP - Hôpital Antoine Béclère', 'geoPoint': {'lat': 48.80299, 'lon': 2.26692}}, {'city': 'Grenoble', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Anne-Pascale Michard-Lenoir', 'role': 'CONTACT'}], 'facility': 'CHU Grenoble', 'geoPoint': {'lat': 45.17869, 'lon': 5.71479}}, {'city': 'Lyon', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Béatrice Kugener', 'role': 'CONTACT'}], 'facility': 'HCL', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}, {'city': 'Marseille', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Laura Bourgoin', 'role': 'CONTACT'}], 'facility': 'AP-HM', 'geoPoint': {'lat': 43.29695, 'lon': 5.38107}}, {'city': 'Montpellier', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Odile Pidoux', 'role': 'CONTACT'}], 'facility': 'CHU Montpellier', 'geoPoint': {'lat': 43.61093, 'lon': 3.87635}}, {'city': 'Nancy', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Anne Borsa-Dorion', 'role': 'CONTACT'}], 'facility': 'CHRU Nancy', 'geoPoint': {'lat': 48.68439, 'lon': 6.18496}}, {'city': 'Rouen', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Solenn Raymond', 'role': 'CONTACT'}], 'facility': 'CHU Rouen', 'geoPoint': {'lat': 49.44313, 'lon': 1.09932}}, {'city': 'Saint-Etienne', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Hugues Patural', 'role': 'CONTACT'}], 'facility': 'CHU Saint Etienne', 'geoPoint': {'lat': 45.43389, 'lon': 4.39}}, {'city': 'Toulouse', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Rémi Vincent', 'role': 'CONTACT'}], 'facility': 'CHU Toulouse', 'geoPoint': {'lat': 43.60426, 'lon': 1.44367}}], 'centralContacts': [{'name': 'Fleur Lorton', 'role': 'CONTACT', 'email': 'Fleur.LORTON@chu-nantes.fr', 'phone': '33 2 40 08 38 06'}, {'name': 'Alban-Elouen BARUTEAU', 'role': 'CONTACT', 'email': 'albanelouen.baruteau@chu-nantes.fr'}], 'overallOfficials': [{'name': 'Fleur Lorton', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Nantes University Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Nantes University Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': 'AXA Assurances VIE Mutuelle', 'class': 'UNKNOWN'}, {'name': 'Institut du Thorax', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}