Observational Study of BEST1 Vitelliform Macular Dystrophy
This study is looking at Best Vitelliform Macular Dystrophy (VMD), an eye condition that can cause vision loss. It's caused by changes in the BEST1 gene. This is an observational study, meaning researchers will watch how the condition progresses naturally over time in people with BEST1 VMD. They want to understand the disease better and find good ways to measure its changes. This information will help develop new treatments in the future. To join, you need to have a diagnosis of BEST1-associated VMD confirmed by a study doctor and be able to attend four follow-up visits over three years. The study aims to enroll 52 participants.
- Study design
- This is an observational study, meaning no new treatments are being tested. It aims to enroll 52 participants to understand the natural progression of BEST1 VMD.
- What's involved
- You would need to commit to 4 follow-up study visits over a period of up to 3 years. These visits will include eye exams like Medmont Dark Adapted Chromatic (DAC) Automated Perimeter, Full-field electroretinogram (ERG), and Electroocoulogram (EOG).
- Compensation
- Not stated in the trial record.
- Follow-up
- Participants will be followed for up to 3 years, with primary measurements taken at these time points.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Study of BEST1 Vitelliform Macular Dystrophy
At a glance
Conditions
NCT05809635
Where you'd take part
This study runs at 3 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
Columbia University Irving Medical Center
New York, New Yorkstudy coordinator listed
Recruiting
Eberhard Karls University Tubingen
Tübingen, Germanystudy coordinator listed
Recruiting
Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts
Paris, Francestudy coordinator listed
Not yet recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Stephen H Tsang, MD, PhD · PRINCIPAL_INVESTIGATOR · Columbia University
Who to contact
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Inclusion
Exclusion
What this trial measures
- Medmont Dark Adapted Chromatic (DAC) Automated PerimeterUp to 3 years
- Full-field electroretinogram (ERG)Up to 3 years
ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol.
- Electroocoulogram (EOG)Up to 3 years
EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol
- 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