Study of BEST1 Vitelliform Macular Dystrophy

NCT05809635 | Recruiting

• 2 other identifiers: AAAT5994R24EY028758
• Study Type: observational
• Target: 52
• Locations: 3 countries
• Sites: 3

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. 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. 2.Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD.
3. 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. 4.Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.

Conditions

Best Vitelliform Macular Dystrophy; Retinitis Pigmentosa

Outcome Measures

Primary Outcomes (7)

• Medmont Dark Adapted Chromatic (DAC) Automated Perimeter

  Up to 3 years

• Full-field electroretinogram (ERG)

  ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol.

  Up to 3 years

• Electroocoulogram (EOG)

  EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol

  Up to 3 years

• Optical Coherence Tomography (OCT)

  Up to 3 years

• Fundus Autofluorescence (FAF)

  Up to 3 years

• Near-infrared fundus autofluorescence (NIR-AF)

  Up to 3 years

• Quantitative Fundus Autofluorescence (qAF)

  Up to 3 years

Secondary Outcomes (7)

• Best-corrected Visual Acuity (BCVA)

  Up to 3 years

• Color Fundus Photos

  Up to 3 years

• Macular Integrity Assessment (MAIA) Microperimetry

  Up to 3 years

• Goldman Kinetic Visual Field

  Up to 3 years

• Light-adapted Static Perimetry

  Up to 3 years

Study Arms (1)

Best Vitelliform Macular Dystrophy (VMD) Participants

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

Other: Natural History Study

Interventions

Natural History Study OTHER

Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy

Best Vitelliform Macular Dystrophy (VMD) Participants

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients are expected to present to the clinic at all age groups; enrollment of subjects \<18 years of age will be obtained by informed consent in the company of a parent or legal guardian. There will also be no gender-or ethnic/racial specific inclusion criteria. The enrollment of non-English speaking subjects is not expected.

You may qualify if:

• 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)

You may not qualify if:

• Systemic condition that prevents the participant from undergoing the exams

Sponsors & Collaborators

• Columbia University: lead
• Universität Tübingen: collaborator
• Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts: collaborator
• National Eye Institute (NEI): collaborator

Study Sites (3)

Columbia University Irving Medical Center

New York, New York, 10032, United States

RECRUITING

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

Paris, France

NOT YET RECRUITING

Eberhard Karls University Tubingen

Tübingen, Germany

RECRUITING

MeSH Terms

Conditions

Vitelliform Macular Dystrophy; Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

Macular Degeneration; Retinal Degeneration; Retinal Diseases; Eye Diseases; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Retinal Dystrophies

Study Officials

• Stephen H Tsang, MD, PhD

  Columbia University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Stephen H Tsang, MD, PhD

CONTACT

212-342-1186; sht2@cumc.columbia.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Laszlo Z. Bito Professor of Ophthalmology and Professor of Pathology and Cell Biology

Study Record Dates

• First Submitted: March 30, 2023
• First Posted: April 12, 2023
• Study Start: March 30, 2021
• Primary Completion (Estimated): May 31, 2026
• Study Completion (Estimated): May 31, 2026
• Last Updated: July 30, 2025

Record last verified: 2025-07

Locations

US (1); FR (1); DE (1)