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Recruiting NCT05809635

NCT05809635 Study of BEST1 Vitelliform Macular Dystrophy

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Clinical Trial Summary
NCT ID NCT05809635
Status Recruiting
Phase
Sponsor Columbia University
Condition Best Vitelliform Macular Dystrophy
Study Type OBSERVATIONAL
Enrollment 52 participants
Start Date 2021-03-30
Primary Completion 2026-05-31

Eligibility & Interventions

Sex All sexes
Min Age N/A
Max Age N/A
Study Type OBSERVATIONAL
Interventions
Natural History Study

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 52 participants in total. It began in 2021-03-30 with a primary completion date of 2026-05-31.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

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.

Eligibility Criteria

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

Contact & Investigator

Central Contact

Stephen H Tsang, MD, PhD

✉ sht2@cumc.columbia.edu

📞 212-342-1186

Principal Investigator

Stephen H Tsang, MD, PhD

PRINCIPAL INVESTIGATOR

Columbia University

Frequently Asked Questions

Who can join the NCT05809635 clinical trial?

This trial is open to participants of all sexes, studying Best Vitelliform Macular Dystrophy. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT05809635 currently recruiting?

Yes, NCT05809635 is actively recruiting participants. Contact the research team at sht2@cumc.columbia.edu for enrollment information.

Where is the NCT05809635 trial being conducted?

This trial is being conducted at New York, United States, Paris, France, Tübingen, Germany.

Who is sponsoring the NCT05809635 clinical trial?

NCT05809635 is sponsored by Columbia University. The principal investigator is Stephen H Tsang, MD, PhD at Columbia University. The trial plans to enroll 52 participants.

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