Study of BEST1 Vitelliform Macular Dystrophy

Recruiting

• Conditions: Retinitis Pigmentosa; Best Vitelliform Macular Dystrophy
• Interventions: Other: Natural History Study

• Registration Number: NCT05809635
• Lead Sponsor: Columbia University

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-03-30
• Study First Submitted: 2023-03-30
• Study First Submitted QC: 2023-03-30
• Study First Posted: 2023-04-12
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-25
• Last Update Posted: 2025-04-29
• Primary Completion: 2025-05-31
• Study Completion: 2025-05-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 52

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Best Vitelliform Macular Dystrophy (VMD) Participants	Natural History Study	Participants with a clinical picture of Retinitis pigmentosa with dominant and recessive variants in the BEST1 gene

Primary Outcome Measures

Name	Time	Method
Near-infrared fundus autofluorescence (NIR-AF)	Up to 3 years
Medmont Dark Adapted Chromatic (DAC) Automated Perimeter	Up to 3 years
Electroocoulogram (EOG)	Up to 3 years	EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol
Optical Coherence Tomography (OCT)	Up to 3 years
Full-field electroretinogram (ERG)	Up to 3 years	ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol.
Fundus Autofluorescence (FAF)	Up to 3 years
Quantitative Fundus Autofluorescence (qAF)	Up to 3 years

Secondary Outcome Measures

Name	Time	Method
Full-field Stimulus Testing	Up to 3 years
Light-adapted Static Perimetry	Up to 3 years
Best-corrected Visual Acuity (BCVA)	Up to 3 years
Goldman Kinetic Visual Field	Up to 3 years
Dark-adapted Chromatic Perimetry	Up to 3 years
Color Fundus Photos	Up to 3 years
Macular Integrity Assessment (MAIA) Microperimetry	Up to 3 years

Trial Locations

Locations (3)

Eberhard Karls University Tubingen; 🇩🇪 Tuebingen, Germany

Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts; 🇫🇷 Paris, France

Columbia University Irving Medical Center; 🇺🇸 New York, New York, United States