Ignite Creation Date:
2025-12-25 @ 3:21 AM
Ignite Modification Date:
2025-12-26 @ 1:59 AM
Study NCT ID:
NCT03959605
Status:
COMPLETED
Last Update Posted:
2021-10-21
First Post:
2019-05-18
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D016117', 'term': 'Albinism, Ocular'}], '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'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D001800', 'term': 'Blood Specimen Collection'}, {'id': 'D005820', 'term': 'Genetic Testing'}], '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'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D033142', 'term': 'Genetic Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 48}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2019-01-06', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-10', 'completionDateStruct': {'date': '2021-10-01', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2021-10-20', 'studyFirstSubmitDate': '2019-05-18', 'studyFirstSubmitQcDate': '2019-05-21', 'lastUpdatePostDateStruct': {'date': '2021-10-21', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2019-05-22', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-02-02', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of genetics variants', 'timeFrame': '1 month', 'description': 'among the genes involved in albinism, identification of those presents in parents of children with albinism'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Albinism, Ocular']}, 'descriptionModule': {'briefSummary': 'Fovea plana could be the phenoyipic translation of a genetic anomaly in one of the genes identified in albinisme'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'parents without symptom of albinism (except fovea plana) of children with albinism', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* children with albinism\n* father and mother of children with albinism\n\nExclusion Criteria:\n\n* sign of albinism except fovea plana in father or mother of children with albinism\n* ophthalmological abnormalities making access to the fundus with OCT impossible'}, 'identificationModule': {'nctId': 'NCT03959605', 'acronym': 'ALAFOR', 'briefTitle': 'Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children', 'organization': {'class': 'NETWORK', 'fullName': 'Fondation Ophtalmologique Adolphe de Rothschild'}, 'officialTitle': 'Genetic Determinant of Foveolar Hypoplasia in Parents of Albinos Children', 'orgStudyIdInfo': {'id': 'MMT_2019_2'}}, 'armsInterventionsModule': {'interventions': [{'name': 'blood sample for genetic test', 'type': 'GENETIC', 'description': 'detection of pathogenic variants among the 19 genes known to be involved in albinism'}, {'name': 'Ophtalmological examination', 'type': 'DIAGNOSTIC_TEST', 'description': 'measurement of visual acuity, OCT and OCTA'}]}, 'contactsLocationsModule': {'locations': [{'zip': '75019', 'city': 'Paris', 'country': 'France', 'facility': 'Fondation A de Rothschild', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'overallOfficials': [{'name': 'Martine MAUGET FAYSSE', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Fondation A. de Rothschild'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Fondation Ophtalmologique Adolphe de Rothschild', 'class': 'NETWORK'}, 'responsibleParty': {'type': 'SPONSOR'}}}}