Ignite Creation Date:
2025-12-25 @ 3:13 AM
Ignite Modification Date:
2026-01-09 @ 3:00 AM
Study NCT ID:
NCT06545305
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2024-08-13
First Post:
2024-08-01
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006712', 'term': 'Homocystinuria'}, {'id': 'D004479', 'term': 'Ectopia Lentis'}], 'ancestors': [{'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020138', 'term': 'Hyperhomocysteinemia'}, {'id': 'D000592', 'term': 'Amino Acid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D005124', 'term': 'Eye Abnormalities'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D007906', 'term': 'Lens Subluxation'}, {'id': 'D007905', 'term': 'Lens Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D014821', 'term': 'Vitrectomy'}], 'ancestors': [{'id': 'D013508', 'term': 'Ophthalmologic Surgical Procedures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 6}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2024-01-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-08', 'completionDateStruct': {'date': '2024-08-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-08-09', 'studyFirstSubmitDate': '2024-08-01', 'studyFirstSubmitQcDate': '2024-08-06', 'lastUpdatePostDateStruct': {'date': '2024-08-13', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-08-09', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2024-07-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Autoref reading', 'timeFrame': 'After one year', 'description': 'Refractory errors'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['ocular complications', 'high myopia', 'Saudi Arabia', 'Classic Homocystinuria', 'Ectopia lentis'], 'conditions': ['Complications']}, 'descriptionModule': {'briefSummary': 'Background: Cysteine beta-synthase (CBS) deficiency, often known as classic homocystinuria (HCU), is an uncommon inborn mistake in methionine metabolism. Developmental delay, intellectual incapacity, skeletal and vascular symptoms, and ocular abnormalities are possible main clinical characteristics.\n\nObjective: This study sought to describe the ocular anomalies that King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia, HCU patients presented with between 2018 and 2022.', 'detailedDescription': 'This retrospective research included 6 HCU patients. Demographic and clinical characteristics of patients as age, gender, comorbidities were collected. Relevant clinical and ophthalmic assessments, like visual acuity, fundus examination findings, complications and type of surgery were also reported'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT'], 'maximumAge': '30 Years', 'minimumAge': '20 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': "The patient's records gathered from outpatient internal medicine and pediatric encounters. Six patients met study inclusion criteria. Demographic and clinical characteristics of patients were collected. Relevant clinical and ophthalmic assessments, as visual acuity, fundus examination, complications and surgery type were also obtained. Visual acuity, in-clinic dilated fundus examination, optical coherence tomography (OCT) angiography, macular OCT scan, and fundus photography were components of ophthalmic examinations. Fundus examination involved retinal inspection, visual acuity measured using tumbling E chart.", 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* All patients from all age groups who were diagnosed with homocystinuria between 2018 and 2022 were included, regardless of whether the diagnosis was made biochemically (by exhibiting hyperhomocysteinaemia and hypermethioninaemia) or genetically (by discovering biallelic pathogenic mutations in the CBS gene)\n\nExclusion Criteria:\n\n* Patients with incomplete investigations for various reasons'}, 'identificationModule': {'nctId': 'NCT06545305', 'briefTitle': 'Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria', 'organization': {'class': 'OTHER_GOV', 'fullName': 'King Fahad Armed Forces Hospital'}, 'officialTitle': 'Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria in Jeddah, Saudi Arabia: A Cross-sectional Study', 'orgStudyIdInfo': {'id': 'Optha'}, 'secondaryIdInfos': [{'id': 'King Fahd Armed Forces', 'type': 'OTHER', 'domain': 'REC 607'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients with Homocystinuria', 'description': 'Homocystinuria patients with Ocular complications', 'interventionNames': ['Procedure: Lensectomy and vitrectomy']}], 'interventions': [{'name': 'Lensectomy and vitrectomy', 'type': 'PROCEDURE', 'otherNames': ['Scleral fixation', 'Grice green procedure'], 'description': 'Corrections', 'armGroupLabels': ['Patients with Homocystinuria']}]}, 'contactsLocationsModule': {'locations': [{'zip': '22522', 'city': 'Jeddah', 'country': 'Saudi Arabia', 'facility': 'King Fahad Armed Forces Hospital', 'geoPoint': {'lat': 21.49012, 'lon': 39.18624}}], 'overallOfficials': [{'name': 'Hassan A Ahmed, MS', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Pediatric Department, King Salman Medical city-Maternity and Children, Medina, Saudi Arabia'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED', 'description': 'The data available with principal investigator when needed'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'King Fahad Armed Forces Hospital', 'class': 'OTHER_GOV'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Residence', 'investigatorFullName': 'Hassan A. Ahmed', 'investigatorAffiliation': 'King Fahad Armed Forces Hospital'}}}}