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RecruitingNCT05809635Updated Jul 30, 2025

Study of BEST1 Vitelliform Macular Dystrophy

An observational study in Best Vitelliform Macular Dystrophy and Retinitis Pigmentosa, sponsored by Columbia University. Recruiting at 3 sites in 3 countries. Per ClinicalTrials.gov, last updated 2025-07-30.

Sponsored by Columbia University · Observational

From the registry’s dates

  • Primary completion was expected by May 2026, 4 months ago, but the record still lists the study as recruiting.
  • Started Mar 2021; still recruiting 5 years 6 months later.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
52
Sex
All
01

Study 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.
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Conditions studied

  • Best Vitelliform Macular Dystrophy
  • Retinitis Pigmentosa

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03

In context

Retinitis Pigmentosa

268 studies on the registry are indexed under Retinitis Pigmentosa; 71 are open to participants now.

This study's planned enrollment of 52 is close to the median of 52 across 83 observational studies indexed under Retinitis Pigmentosa.

Browse Retinitis Pigmentosa studies →

Lead sponsor

Columbia University is the lead sponsor of 1,103 studies on the registry; 193 are open to participants now.

Of its 172 completed or terminated interventional studies of FDA-regulated products, 142 (83%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
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.

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

Exclusion Criteria:

  • Systemic condition that prevents the participant from undergoing the exams
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
52 participants (estimated)
Patient registry
No

Groups and cohorts

  • 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

  • OtherNatural History Study

    Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy

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What researchers measure

Primary outcomes

  1. Medmont Dark Adapted Chromatic (DAC) Automated Perimeter

    Time frame: Up to 3 years

  2. Full-field electroretinogram (ERG)

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

    Time frame: Up to 3 years

  3. Electroocoulogram (EOG)

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

    Time frame: Up to 3 years

  4. Optical Coherence Tomography (OCT)

    Time frame: Up to 3 years

  5. Fundus Autofluorescence (FAF)

    Time frame: Up to 3 years

  6. Near-infrared fundus autofluorescence (NIR-AF)

    Time frame: Up to 3 years

  7. Quantitative Fundus Autofluorescence (qAF)

    Time frame: Up to 3 years

Secondary outcomes

  1. Best-corrected Visual Acuity (BCVA)

    Time frame: Up to 3 years

  2. Color Fundus Photos

    Time frame: Up to 3 years

  3. Macular Integrity Assessment (MAIA) Microperimetry

    Time frame: Up to 3 years

  4. Goldman Kinetic Visual Field

    Time frame: Up to 3 years

  5. Light-adapted Static Perimetry

    Time frame: Up to 3 years

  6. Dark-adapted Chromatic Perimetry

    Time frame: Up to 3 years

  7. Full-field Stimulus Testing

    Time frame: Up to 3 years

07

Study locations

2 of 3 sites recruiting
  • 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
    • Isabelle Audo, MD, PhD · Contact · isabelle.audo@inserm.fr · +33 1 40 02 14 30
    • Camille Andrieu, MD · Contact · candrieu@15-20.fr · +33 1 40 02 14 51
    • Isabelle Audo, MD, PhD · Principal investigator
    Not yet recruiting
  • Eberhard Karls University Tubingen
    Tübingen, Germany
    Recruiting
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jul 30, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT05809635
Lead sponsor
Columbia University
Collaborators
Universität Tübingen, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, National Eye Institute (NEI)
Responsible party
Stephen H. Tsang (Laszlo Z. Bito Professor of Ophthalmology and Professor of Pathology and Cell Biology, Columbia University) — Principal investigator
First posted
Apr 12, 2023
Start date
Mar 30, 2021
Primary completion
May 31, 2026 (estimated)
Completion
May 31, 2026 (estimated)
Last update
Jul 30, 2025

Study contacts

Stephen H Tsang, MD, PhD
Contact
sht2@cumc.columbia.edu
212-342-1186
Stephen H Tsang, MD, PhD
principal investigator · Columbia University

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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