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NCT05809635

Study of BEST1 Vitelliform Macular Dystrophy

Recruiting now Last updated 30 July 2025
What this trial tests

trial testing Natural History Study in Best Vitelliform Macular Dystrophy in 52 participants. Currently enrolling.

Timeline
30 March 2021
Primary endpoint
31 May 2026
31 May 2026

Quick facts

Lead sponsorColumbia University
StatusRecruiting now
Study typeOBSERVATIONAL
Enrollment52
Start date30 March 2021
Primary completion31 May 2026
Estimated completion31 May 2026
Sites3 locations across France, United States, Germany

Drugs / interventions tested

Conditions studied

Sponsor

Columbia University

Who can join

Eligibility, any sex, with Best Vitelliform Macular Dystrophy or Retinitis Pigmentosa. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

  1. Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.
    Padhy SK, Habjan MŠ, Constable PA. · · 2026 · PMID 41795754 · DOI 10.1007/s10633-026-10093-y

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