Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
52 participants
OBSERVATIONAL
2021-03-30
2026-05-31
Brief Summary
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The blinding disorder Best Vitelliform Macular Dystrophy (VMD) is caused by any one of more than 250 different mutations in the BEST1 gene.
As 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:
1. Report the natural history of retinal degeneration in participants with a clinical diagnosis of VMD with molecular confirmation of a pathogenic BEST1 mutation(s).
2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD.
3. 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
4. Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Best Vitelliform Macular Dystrophy (VMD) Participants
Participants with a clinical picture of Retinitis pigmentosa with dominant and recessive variants in the BEST1 gene
Natural History Study
Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy
Interventions
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Natural History Study
Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy
Eligibility Criteria
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Inclusion Criteria
* 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)
Exclusion Criteria
ALL
No
Sponsors
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Universität Tübingen
OTHER
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
OTHER
National Eye Institute (NEI)
NIH
Columbia University
OTHER
Responsible Party
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Stephen H. Tsang
Laszlo Z. Bito Professor of Ophthalmology and Professor of Pathology and Cell Biology
Principal Investigators
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Stephen H Tsang, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
Columbia University
Locations
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Columbia University Irving Medical Center
New York, New York, United States
Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts
Paris, , France
Eberhard Karls University Tubingen
Tübingen, , Germany
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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AAAT5994
Identifier Type: -
Identifier Source: org_study_id
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