Ignite Creation Date:
2025-12-24 @ 10:17 PM
Ignite Modification Date:
2025-12-29 @ 6:21 AM
Study NCT ID:
NCT05809635
Status:
RECRUITING
Last Update Posted:
2025-07-30
First Post:
2023-03-30
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Study of BEST1 Vitelliform Macular Dystrophy
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D057826', 'term': 'Vitelliform Macular Dystrophy'}, {'id': 'D012174', 'term': 'Retinitis Pigmentosa'}], 'ancestors': [{'id': 'D008268', 'term': 'Macular Degeneration'}, {'id': 'D012162', 'term': 'Retinal Degeneration'}, {'id': 'D012164', 'term': 'Retinal Diseases'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D058499', 'term': 'Retinal Dystrophies'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 52}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-03-30', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-07', 'completionDateStruct': {'date': '2026-05-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-07-28', 'studyFirstSubmitDate': '2023-03-30', 'studyFirstSubmitQcDate': '2023-03-30', 'lastUpdatePostDateStruct': {'date': '2025-07-30', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-04-12', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-05-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Medmont Dark Adapted Chromatic (DAC) Automated Perimeter', 'timeFrame': 'Up to 3 years'}, {'measure': 'Full-field electroretinogram (ERG)', 'timeFrame': 'Up to 3 years', 'description': 'ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol.'}, {'measure': 'Electroocoulogram (EOG)', 'timeFrame': 'Up to 3 years', 'description': 'EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol'}, {'measure': 'Optical Coherence Tomography (OCT)', 'timeFrame': 'Up to 3 years'}, {'measure': 'Fundus Autofluorescence (FAF)', 'timeFrame': 'Up to 3 years'}, {'measure': 'Near-infrared fundus autofluorescence (NIR-AF)', 'timeFrame': 'Up to 3 years'}, {'measure': 'Quantitative Fundus Autofluorescence (qAF)', 'timeFrame': 'Up to 3 years'}], 'secondaryOutcomes': [{'measure': 'Best-corrected Visual Acuity (BCVA)', 'timeFrame': 'Up to 3 years'}, {'measure': 'Color Fundus Photos', 'timeFrame': 'Up to 3 years'}, {'measure': 'Macular Integrity Assessment (MAIA) Microperimetry', 'timeFrame': 'Up to 3 years'}, {'measure': 'Goldman Kinetic Visual Field', 'timeFrame': 'Up to 3 years'}, {'measure': 'Light-adapted Static Perimetry', 'timeFrame': 'Up to 3 years'}, {'measure': 'Dark-adapted Chromatic Perimetry', 'timeFrame': 'Up to 3 years'}, {'measure': 'Full-field Stimulus Testing', 'timeFrame': 'Up to 3 years'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Best Vitelliform Macular Dystrophy', 'Retinitis Pigmentosa']}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to establish the natural history of of participants with BESTROPHIN 1 Vitelliform Macular Dystrophy.\n\nThe blinding disorder Best Vitelliform Macular Dystrophy (VMD) is caused by any one of more than 250 different mutations in the BEST1 gene.\n\nAs new treatments are developed, a clear understanding of the natural history of disease progression of BEST1 VMD is necessary. The goals of this natural history study are to:\n\n1. Report the natural history of retinal degeneration in participants with a clinical diagnosis of VMD with molecular confirmation of a pathogenic BEST1 mutation(s).\n2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD.\n3. Compare progression of the identified structural and functional measures between the two eyes to judge the suitability of the second untreated eye as a control for a future clinical trial involving unilateral treatment\n4. Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients are expected to present to the clinic at all age groups; enrollment of subjects \\<18 years of age will be obtained by informed consent in the company of a parent or legal guardian. There will also be no gender-or ethnic/racial specific inclusion criteria. The enrollment of non-English speaking subjects is not expected.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Ability to provide informed consent\n* Diagnosis of BEST1-associated VMD by study physician, who are trained retinal specialists in the university clinic Must be able to commit to 4 follow-up study visits (3 years)\n\nExclusion Criteria:\n\n* Systemic condition that prevents the participant from undergoing the exams'}, 'identificationModule': {'nctId': 'NCT05809635', 'briefTitle': 'Study of BEST1 Vitelliform Macular Dystrophy', 'organization': {'class': 'OTHER', 'fullName': 'Columbia University'}, 'officialTitle': 'Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene', 'orgStudyIdInfo': {'id': 'AAAT5994'}, 'secondaryIdInfos': [{'id': 'R24EY028758', 'link': 'https://reporter.nih.gov/quickSearch/R24EY028758', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Best Vitelliform Macular Dystrophy (VMD) Participants', 'description': 'Participants with a clinical picture of Retinitis pigmentosa with dominant and recessive variants in the BEST1 gene', 'interventionNames': ['Other: Natural History Study']}], 'interventions': [{'name': 'Natural History Study', 'type': 'OTHER', 'description': 'Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy', 'armGroupLabels': ['Best Vitelliform Macular Dystrophy (VMD) Participants']}]}, 'contactsLocationsModule': {'locations': [{'zip': '10032', 'city': 'New York', 'state': 'New York', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Stephen H Tsang, MD, PhD', 'role': 'CONTACT', 'email': 'sht2@columbia.edu', 'phone': '212-342-1186'}], 'facility': 'Columbia University Irving Medical Center', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}, {'city': 'Paris', 'status': 'NOT_YET_RECRUITING', 'country': 'France', 'contacts': [{'name': 'Isabelle Audo, MD, PhD', 'role': 'CONTACT', 'email': 'isabelle.audo@inserm.fr', 'phone': '+33 1 40 02 14 30'}, {'name': 'Camille Andrieu, MD', 'role': 'CONTACT', 'email': 'candrieu@15-20.fr', 'phone': '+33 1 40 02 14 51'}, {'name': 'Isabelle Audo, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'city': 'Tübingen', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Laura Kuehlewein, MD', 'role': 'CONTACT', 'email': 'laura.kuehlewein@med.uni-tuebingen.de', 'phone': '+49 07071 29-88088'}, {'name': 'Katarina Stingl, MD', 'role': 'CONTACT', 'email': 'katarina.stingl@med.uni-tuebingen.de', 'phone': '+49 7071 29 87421'}, {'name': 'Eberhart Zrenner, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Eberhard Karls University Tubingen', 'geoPoint': {'lat': 48.52266, 'lon': 9.05222}}], 'centralContacts': [{'name': 'Stephen H Tsang, MD, PhD', 'role': 'CONTACT', 'email': 'sht2@cumc.columbia.edu', 'phone': '212-342-1186'}], 'overallOfficials': [{'name': 'Stephen H Tsang, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Columbia University'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Columbia University', 'class': 'OTHER'}, 'collaborators': [{'name': 'Universität Tübingen', 'class': 'OTHER'}, {'name': "Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts", 'class': 'OTHER'}, {'name': 'National Eye Institute (NEI)', 'class': 'NIH'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Laszlo Z. Bito Professor of Ophthalmology and Professor of Pathology and Cell Biology', 'investigatorFullName': 'Stephen H. Tsang', 'investigatorAffiliation': 'Columbia University'}}}}