Ignite Creation Date:
2025-12-24 @ 2:53 PM
Ignite Modification Date:
2025-12-25 @ 1:38 PM
Study NCT ID:
NCT03810859
Status:
UNKNOWN
Last Update Posted:
2021-11-22
First Post:
2019-01-17
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000567', 'term': 'Amelogenesis Imperfecta'}, {'id': 'D003811', 'term': 'Dentinogenesis Imperfecta'}], 'ancestors': [{'id': 'D000094602', 'term': 'Developmental Defects of Enamel'}, {'id': 'D014071', 'term': 'Tooth Abnormalities'}, {'id': 'D018640', 'term': 'Stomatognathic System Abnormalities'}, {'id': 'D009057', 'term': 'Stomatognathic Diseases'}, {'id': 'D014076', 'term': 'Tooth Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}], 'ancestors': [{'id': 'D013048', 'term': 'Specimen Handling'}, {'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D011677', 'term': 'Punctures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'BASIC_SCIENCE', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 14}}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2019-10-09', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-11', 'completionDateStruct': {'date': '2022-09-15', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2021-11-19', 'studyFirstSubmitDate': '2019-01-17', 'studyFirstSubmitQcDate': '2019-01-17', 'lastUpdatePostDateStruct': {'date': '2021-11-22', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-01-22', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2022-09-15', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Genome sequencing', 'timeFrame': 'After one day', 'description': 'Pathogenic variants identification and qualification'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Amelogenesis imperfecta', 'Dentinogenesis imperfecta', 'Dentin anomalies', 'Whole Exome Study'], 'conditions': ['Amelogenesis Imperfecta', 'Dentinogenesis Imperfecta', 'Dentin Anomalies']}, 'descriptionModule': {'briefSummary': 'ExoDent specifically aims to discover new genes and new mutations causing isolated amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) and other dentin anomalies. The key point for clinicians is to distinguish between non syndromic and syndromic disorders in order to improve patients guidance and counseling. To do so, two targeted NGS panel have been designed, one searching for isolated AI and the other for DI. After 18 months, some families remain without any positive results. ExoDent project proposes those negative patients a Whole Exome Sequencing (WES) approach to deeper explore their genetic background.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '4 Years', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* clinical diagnosis of amelogenesis imperfecta or dentinogenesis imerfecta or other dentin anomaly with no other signs or symptoms ( familial or isolated)\n* negative results after targeted NGS strategy for molecular diagnosis\n\nExclusion Criteria:\n\n* absence of positive clinical diagnosis\n* Diagnosis of syndromic disease'}, 'identificationModule': {'nctId': 'NCT03810859', 'acronym': 'EXODENT', 'briefTitle': 'Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants', 'orgStudyIdInfo': {'id': 'K180404J'}, 'secondaryIdInfos': [{'id': '2018-A01250-55', 'type': 'OTHER', 'domain': 'ID-RCB'}]}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'All patients', 'description': 'Blood sample', 'interventionNames': ['Biological: Blood sample']}], 'interventions': [{'name': 'Blood sample', 'type': 'BIOLOGICAL', 'description': 'Adults : 7 to 10 mL Childs : 2 to 4 mL', 'armGroupLabels': ['All patients']}]}, 'contactsLocationsModule': {'locations': [{'zip': '75014', 'city': 'Paris', 'country': 'France', 'facility': 'Hospital Cochin', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Céline GAUCHER, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'APHP'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'collaborators': [{'name': 'French rare diseases Healthcare Network', 'class': 'UNKNOWN'}, {'name': 'The French Foundation for Rare Diseases', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'SPONSOR'}}}}