Study of BEST1 Vitelliform Macular Dystrophy

Columbia University

Status: Enrolling

Conditions: Retinitis Pigmentosa; Best Vitelliform Macular Dystrophy

Treatments: Other: Natural History Study

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT05809635

AAAT5994

R24EY028758 (U.S. NIH Grant/Contract)

Details and patient eligibility

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.

Enrollment: 52 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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 criteria

• Systemic condition that prevents the participant from undergoing the exams

Trial design

52 participants in 1 patient group

Best Vitelliform Macular Dystrophy (VMD) Participants

Description:

Participants with a clinical picture of Retinitis pigmentosa with dominant and recessive variants in the BEST1 gene

Treatment:

Other: Natural History Study