Study of BEST1 Vitelliform Macular Dystrophy

Part of paid clinical trials in New York, New York.

Sponsor
Columbia University
Study ID
NCT05809635
Status
Recruiting
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Conditions

  • Best Vitelliform Macular Dystrophy
  • Retinitis Pigmentosa

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Not accepted

Interventions

  • Natural History Study — OTHER
    Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy

Study Details

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.

Key Dates

Start date
Mar 30, 2021
Status verified
Jul 2025
Primary completion
May 31, 2026
Completion
May 31, 2026

Study Design

Enrollment
52 participants (estimated)

Arms

  • Arm: Best Vitelliform Macular Dystrophy (VMD) Participants
    Participants with a clinical picture of Retinitis pigmentosa with dominant and recessive variants in the BEST1 gene

Primary Outcome Measure

Medmont Dark Adapted Chromatic (DAC) Automated Perimeter [ Time Frame: Up to 3 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Columbia University Irving Medical CenterNew YorkNew York10032
Stephen H Tsang, MD, PhD
[email protected]
212-342-1186

Find similar trials in New York, NY

By research site
Columbia University Irving Medical Center· New York, NY

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