Ignite Creation Date:
2025-12-25 @ 12:06 AM
Ignite Modification Date:
2025-12-25 @ 10:05 PM
Study NCT ID:
NCT04056858
Status:
COMPLETED
Last Update Posted:
2019-08-14
First Post:
2019-08-12
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Study of a Candidate Gene Involved in Goldenhar Syndrome.
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006053', 'term': 'Goldenhar Syndrome'}], 'ancestors': [{'id': 'D008342', 'term': 'Mandibulofacial Dysostosis'}, {'id': 'D003394', 'term': 'Craniofacial Dysostosis'}, {'id': 'D004413', 'term': 'Dysostoses'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D019465', 'term': 'Craniofacial Abnormalities'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'The informed consent of the patients has already been gathered during the genetic consultation prior to any molecular analysis.\n\nThe samples received are:\n\n\\- 2 tubes of blood on EDTA or 1 aliquot of DNA'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 248}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2012-09-29', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2019-08', 'completionDateStruct': {'date': '2014-01-08', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2019-08-12', 'studyFirstSubmitDate': '2019-08-12', 'studyFirstSubmitQcDate': '2019-08-12', 'lastUpdatePostDateStruct': {'date': '2019-08-14', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-08-14', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2014-01-08', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'presence of sequence variation', 'timeFrame': 'At the screening', 'description': 'Identification of the first gene involved in Goldenhar syndrome'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['array-CGH', 'exome sequencing'], 'conditions': ['Goldenhar Syndrome', 'Oculoauriculovertebral Dysplasia']}, 'descriptionModule': {'briefSummary': 'The aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.', 'detailedDescription': 'Goldenhar syndrome belongs to the heterogeneous spectrum of oculoauriculovertebral dysplasia. Several chromosomal abnormalities have been described associated with this spectrum, and furthermore mutations in different genes of development cause abnormalities of the jaw or facial asymmetries in human or mouse. To date, no gene has been identified as formally involved in the genesis of the OAVS, despite evidence of familial cases, mostly with autosomal dominant inheritance.\n\nThe aim of this study is to identify of the first gene involved in the Goldenhar syndrome in a cohort of 120 affected patients.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'A cohort of 120 patients affected with Goldenhar/spectrum of oculoauriculovertebral dysplasia , whose phenotype is finely characterized, and that were analyzed using an oligonucleotide array-CGH pangenomic approach', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Spectrum of oculoauriculovertebral dysplasia minimal features include unilateral microtia and hemifacial microsomia\n\nExclusion Criteria:\n\n* Absence of minimal spectrum of oculoauriculovertebral dysplasia features, molecular anomaly identified, other diagnosis'}, 'identificationModule': {'nctId': 'NCT04056858', 'acronym': 'GOLDGEN', 'briefTitle': 'Study of a Candidate Gene Involved in Goldenhar Syndrome.', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Bordeaux'}, 'officialTitle': 'Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome.', 'orgStudyIdInfo': {'id': 'CHU BX 2012/11'}}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Caroline ROORYCK THAMBO, Dr', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Bordeaux Universitu Hospital'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Bordeaux', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}