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Recruiting No phase listed Observational

Study of BEST1 Vitelliform Macular Dystrophy

ClinicalTrials.gov ID: NCT05809635

Public ClinicalTrials.gov record NCT05809635. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.

ClinicalTrials.gov public records Last synced Sep 6, 2026, 7:43 AM EDT

Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.

Official title

Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene

Brief summary

Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.

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.

Study identification

NCT ID
NCT05809635
Recruitment status
Recruiting
Study type
Observational
Phase
Not listed
Lead sponsor
Columbia University
Other
Enrollment
52 participants

Conditions and interventions

Eligibility (public fields only)

Age range
Not listed
Sex
All
Healthy volunteers
Healthy volunteers not accepted

This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.

Study timeline

Start date
Mar 29, 2021
Primary completion
May 30, 2026
Completion
May 30, 2026
Last update posted
Jul 29, 2025

2021 – 2026

United States locations

U.S. sites
1
U.S. states
1
U.S. cities
1
Facility City State ZIP Site status
Columbia University Irving Medical Center New York New York 10032 Recruiting

Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.

Non-U.S. locations

This page focuses on the U.S. directory. The official record also lists 2 non-U.S. sites.

About this trial record page

What this page shows
Public field values for ClinicalTrials.gov record NCT05809635, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
What this page does not do
No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
Where the data comes from
Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
Last refresh
Last update posted Jul 29, 2025 · Synced Sep 6, 2026

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Open the official record

The complete protocol, eligibility criteria, and contact information for NCT05809635 live on ClinicalTrials.gov.

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