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Study of BEST1 Vitelliform Macular Dystrophy

Key facts

Where
New York, United StatesSee the site

Where in United States

  • Columbia University Irving Medical CenterNew York, United StatesTaking people

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  4. What happens if I want to stop?
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Trial details

Who runs it
Columbia University
Trial code
NCT05809635
Record updated
30 July 2025
Original description
The purpose of this study is to establish the natural history of of participants with BESTROPHIN 1 Vitelliform Macular Dystrophy.Read full original descriptionShow less

Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene

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.

Inclusion: Ability to provide informed consent; 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: Systemic condition that prevents the participant from undergoing the exams.

ClinicalTrials.gov NCT05809635