Study of BEST1 Vitelliform Macular Dystrophy

Last updated: April 25, 2025
Sponsor: Columbia University
Overall Status: Active - Recruiting

Phase

N/A

Condition

Eye Disorders/infections

Geographic Atrophy

Retinitis Pigmentosa

Treatment

Natural History Study

Clinical Study ID

NCT05809635
AAAT5994
R24EY028758
  • All Genders

Study Summary

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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Ability to provide informed consent

  • Diagnosis of BEST1-associated VMD by study physician, who are trained retinalspecialists in the university clinic Must be able to commit to 4 follow-up studyvisits (3 years)

Exclusion

Exclusion Criteria:

  • Systemic condition that prevents the participant from undergoing the exams

Study Design

Total Participants: 52
Treatment Group(s): 1
Primary Treatment: Natural History Study
Phase:
Study Start date:
March 30, 2021
Estimated Completion Date:
May 31, 2025

Connect with a study center

  • Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts

    Paris,
    France

    Site Not Available

  • Eberhard Karls University Tubingen

    Tuebingen,
    Germany

    Active - Recruiting

  • Columbia University Irving Medical Center

    New York, New York 10032
    United States

    Active - Recruiting

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