Ignite Creation Date:
2025-12-25 @ 1:45 AM
Ignite Modification Date:
2025-12-27 @ 11:07 PM
Study NCT ID:
NCT06880094
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-03-17
First Post:
2025-03-11
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'OTHER', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 26}}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-04', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-03', 'completionDateStruct': {'date': '2027-04', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-03-11', 'studyFirstSubmitDate': '2025-03-11', 'studyFirstSubmitQcDate': '2025-03-11', 'lastUpdatePostDateStruct': {'date': '2025-03-17', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-03-17', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2027-04', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identification of a structural chromosomal variant', 'timeFrame': '2 years', 'description': 'Identification of a structural chromosomal variant involved in the genesis of orofacial clefts by studying the genetic characteristics of individuals with orofacial clefts.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['orofacial clefts', 'Next Generation Sequencing', 'Optical Genome Mapping'], 'conditions': ['Orofacial Clefts', 'Next Generation Sequencing (NGS)', 'Optical Genome Mapping']}, 'descriptionModule': {'briefSummary': 'Orofacial clefts, the most common congenital craniofacial malformations, have a complex etiology involving an interaction between genetic and environmental factors.\n\nChromosomal abnormalities, including structural variations, represent a major cause of human pathology. Recently, technological developments and the introduction of next-generation sequencing (NGS) technologies have revolutionized the field of medical genetics.\n\nOptical genome mapping (OGM) is an innovative, high-resolution "long read" technique that enables the identification of all classes of chromosomal variation, consisting in the direct visualization of long, labeled DNA molecules throughout the genome. This technology is gradually becoming an essential tool for studying onco-hematology and constitutional genetic pathologies The purpose of this study is to search for structural chromosomal variants (SV) or copy number variants (CNV) not identifiable either by cytogenetic methods nor by "short read" NGS "short read, in individuals with oral-facial clefts with no genetic diagnosis.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Individuals with syndromic, complex or familial oral-facial clefts\n* With no established genetic diagnosis\n* Followed up at the Amiens-Picardie University Hospital\n\nExclusion Criteria:\n\n* genetic diagnosis of oral-facial cleft\n* No health insurance affiliation\n* Patient under guardianship or curatorship, under safeguard of justice or deprived under public law\n* Pregnant, parturient or breast-feeding woman'}, 'identificationModule': {'nctId': 'NCT06880094', 'acronym': 'CARTOFENTE', 'briefTitle': 'Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping', 'organization': {'class': 'OTHER', 'fullName': 'Centre Hospitalier Universitaire, Amiens'}, 'officialTitle': 'Study of Congenital Orofacial Clefts by Implementing Optical Genome Mapping', 'orgStudyIdInfo': {'id': 'PI2023_843_0023'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'patients with syndromic, familial or complex orofacial clefts', 'interventionNames': ['Genetic: blood withdrawal']}], 'interventions': [{'name': 'blood withdrawal', 'type': 'GENETIC', 'description': 'blood withdrawal for genetic testing', 'armGroupLabels': ['patients with syndromic, familial or complex orofacial clefts']}]}, 'contactsLocationsModule': {'locations': [{'zip': '80480', 'city': 'Amiens', 'country': 'France', 'contacts': [{'name': 'Benedicte Demeer, MD', 'role': 'CONTACT', 'email': 'Demeer.Benedicte@chu-amiens.fr', 'phone': '33+322087581'}, {'name': 'Emilien Colin, MD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'CHRU Amiens', 'geoPoint': {'lat': 49.9, 'lon': 2.3}}], 'centralContacts': [{'name': 'Bénédicte DEMEER, MD', 'role': 'CONTACT', 'email': 'Demeer.Benedicte@chu-amiens.fr', 'phone': '33+322087581'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Centre Hospitalier Universitaire, Amiens', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}