Actively Recruiting
Study of BEST1 Vitelliform Macular Dystrophy
Led by Columbia University · Updated on 2025-07-30
52
Participants Needed
3
Research Sites
269 weeks
Total Duration
On this page
Sponsors
C
Columbia University
Lead Sponsor
U
Universität Tübingen
Collaborating Sponsor
AI-Summary
What this Trial Is About
The purpose of this study is to establish the natural history of of participants with BESTROPHIN 1 Vitelliform Macular Dystrophy. 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.
CONDITIONS
Official Title
Study of BEST1 Vitelliform Macular Dystrophy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Ability to provide informed consent
- Diagnosis of BEST1-associated Vitelliform Macular Dystrophy by a trained retinal specialist
- Must be able to commit to 4 follow-up study visits over 3 years
You will not qualify if you...
- Presence of any systemic condition that prevents undergoing the exams
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 3 locations
1
Columbia University Irving Medical Center
New York, New York, United States, 10032
Actively Recruiting
2
Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts
Paris, France
Not Yet Recruiting
3
Eberhard Karls University Tubingen
Tübingen, Germany
Actively Recruiting
Research Team
S
Stephen H Tsang, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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