Recruiting

Observational Study

Sponsor:

Columbia University

Code:

NCT05809635

Conditions

Best Vitelliform Macular Dystrophy

Retinitis Pigmentosa

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Natural History Study

Study Details

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.

Conditions

Best Vitelliform Macular Dystrophy

Retinitis Pigmentosa

Study ID

NCT05809635

Start date

Mar 30, 2021

Status verified date

Jul, 2025

Completion date

May 31, 2026

Anticipated

Primary completion date

May 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Enrollment

52 participants

Anticipated

Interventions and Outcome Measures

Arms

Best Vitelliform Macular Dystrophy (VMD) Participants

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

Interventions

Natural History Study

Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy

Primary outcome measure

  • Medmont Dark Adapted Chromatic (DAC) Automated Perimeter [ Time Frame: Up to 3 years ]
  • Full-field electroretinogram (ERG) [ Time Frame: Up to 3 years ]
  • Electroocoulogram (EOG) [ Time Frame: Up to 3 years ]
  • Optical Coherence Tomography (OCT) [ Time Frame: Up to 3 years ]
  • Fundus Autofluorescence (FAF) [ Time Frame: Up to 3 years ]
  • Near-infrared fundus autofluorescence (NIR-AF) [ Time Frame: Up to 3 years ]
  • Quantitative Fundus Autofluorescence (qAF) [ Time Frame: Up to 3 years ]

Central Contacts and Locations

Central contacts

Stephen H Tsang, MD, PhD

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

Locations

Columbia University Irving Medical Center

Recruiting

New York, New York, United States, 10032

Contacts

Stephen H Tsang, MD, PhD

212-342-1186sht2@columbia.edu

More Information

Sponsor

Columbia University

Last update posted

Jul 30, 2025

Last verified

Jul, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-07. This information was provided to ClinicalTrials.gov by Columbia University on 2025-07-30. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.