Ignite Creation Date:
2025-12-25 @ 4:59 AM
Ignite Modification Date:
2025-12-26 @ 3:59 AM
Study NCT ID:
NCT04495218
Status:
COMPLETED
Last Update Posted:
2024-09-19
First Post:
2020-07-20
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
NGS Panel of Incomplete Forms of Ocular Albinism
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D016117', 'term': 'Albinism, Ocular'}, {'id': 'D000417', 'term': 'Albinism'}], 'ancestors': [{'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'}], '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': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'whole blood sample'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 53}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2020-11-23', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-09', 'completionDateStruct': {'date': '2024-02-28', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2024-09-03', 'studyFirstSubmitDate': '2020-07-20', 'studyFirstSubmitQcDate': '2020-07-28', 'lastUpdatePostDateStruct': {'date': '2024-09-19', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-07-31', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2024-02-28', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Percentage of patients for whom a molecular diagnosis is obtained based on the panel of targeted genes', 'timeFrame': 'Enrollment', 'description': 'the prevalence of finding at least two pathogenic variants is 10%.'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Next generation sequencing', 'Albinism'], 'conditions': ['Albinism, Ocular']}, 'descriptionModule': {'briefSummary': 'Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.', 'detailedDescription': 'Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopigmentation, translucent irides and nystagmus. The molecular genetic lab at Bordeaux University Hospital is the national reference for the study of this disease. More than 1400 patients have been analyzed with a strategy including next-generation sequencing of the 19 known genes of albinism and array-CGH. Despite this thorough analysis, 25% of patients remain without molecular diagnosis. Our experience tells us that these patients often show an incomplete form of albinism with the presence of only few ophthalmologic signs. The molecular diagnosis is very challenging as the phenotype often overlaps with other ophthalmologic disorders.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '0 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patient with a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm and having a specialized consultation in CHU de Bordeaux', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Minor and adult patient.\n* Patient presenting a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm.\n* Registered for the social security system.\n* Informed consent signed by patient or parent of a minor patient.\n\nExclusion Criteria:\n\n* Refusal to participate in research protocol.'}, 'identificationModule': {'nctId': 'NCT04495218', 'acronym': 'DIA', 'briefTitle': 'NGS Panel of Incomplete Forms of Ocular Albinism', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Bordeaux'}, 'officialTitle': 'Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism', 'orgStudyIdInfo': {'id': 'CHUBX 2019/52'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patient with a diagnosis of incomplete form of albinism', 'interventionNames': ['Biological: Blood samples']}], 'interventions': [{'name': 'Blood samples', 'type': 'BIOLOGICAL', 'description': 'Performed a 10 ml blood sample (2 unnamed samples of 5ml) in each of the 100 patients included.', 'armGroupLabels': ['Patient with a diagnosis of incomplete form of albinism']}]}, 'contactsLocationsModule': {'locations': [{'city': 'Bordeaux', 'country': 'France', 'facility': 'Centre Hospitalier Universitaire de Bordeaux', 'geoPoint': {'lat': 44.84124, 'lon': -0.58046}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Bordeaux', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}