Ignite Creation Date:
2025-12-24 @ 11:46 AM
Ignite Modification Date:
2026-01-07 @ 7:02 AM
Study NCT ID:
NCT04068961
Status:
COMPLETED
Last Update Posted:
2019-08-28
First Post:
2019-08-22
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D016115', 'term': 'Albinism, Oculocutaneous'}], 'ancestors': [{'id': 'D000417', 'term': 'Albinism'}, {'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D000592', 'term': 'Amino Acid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D017496', 'term': 'Hypopigmentation'}, {'id': 'D010859', 'term': 'Pigmentation Disorders'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Samples (2 blood tubes or 1 aliquot of DNA) are recorded in the DNA bank because were collected during the genetic consultation of these patients'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 64}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2010-09-15', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2019-08', 'completionDateStruct': {'date': '2010-10-31', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2019-08-26', 'studyFirstSubmitDate': '2019-08-22', 'studyFirstSubmitQcDate': '2019-08-22', 'lastUpdatePostDateStruct': {'date': '2019-08-28', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-08-28', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2010-10-31', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Presence of a genetic anomaly', 'timeFrame': 'At the screening', 'description': 'Analysis by CGH (Comparative Genomic Hybridization) array : The Log2 values of the patient / reference fluorescence intensity ratios (Log2R) are -1 in the case of a heterozygous deletion, 0.5 in the case of heterozygous duplication and 0 in the absence of rearrangement.'}, {'measure': 'Identification of a genetic mutation', 'timeFrame': 'At the screening', 'description': 'By sequencing candidate genes : homozygotic cartography and candidate gene sequencing'}]}, 'conditionsModule': {'keywords': ['CGH array chip', 'Homozygosity mapping'], 'conditions': ['Oculocutaneous Albinism', 'Mutation']}, 'descriptionModule': {'briefSummary': 'The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.', 'detailedDescription': 'The oculocutaneous albinism is an autosomal recessive condition associated with mutations in 4 genes. In 20% of patients no mutation is identified. The optimization of genetic analysis methods and the search for new genes involved will help improve the diagnosis in these patients.\n\n.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients having been examined during a genetic consultation, with Oculocutaneous Albinism', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n-Oculocutaneous albinism (diagnosis validated by a clinician at the initial genetic consultation and did not show mutations of the TYR, OCA2, TYRP1, SLC45A2 genes)\n\nExclusion Criteria:\n\nNone'}, 'identificationModule': {'nctId': 'NCT04068961', 'acronym': 'GENALB', 'briefTitle': 'New Strategies of Genetic Study of Patients With Oculocutaneous Albinism', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Bordeaux'}, 'officialTitle': 'New Strategies of Genetic Study of Patients With Oculocutaneous Albinism', 'orgStudyIdInfo': {'id': 'CHUBX 2010/31'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Genetic analyzes', 'type': 'OTHER', 'description': 'Analysis by CGH array, homozygotic cartography and candidate gene sequencing'}]}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Fanny MORICE-PICARD, Dr', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Hospital, Bordeaux'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Bordeaux', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}