Study of BEST1 Vitelliform Macular Dystrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Natural History Study.
- Who it may be relevant to
- Registry conditions: Best Vitelliform Macular Dystrophy, Retinitis Pigmentosa. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, France, Germany
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Natural History Study in Retinitis Pigmentosa Caused by Mutations in the BEST1 Gene
Overview
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.
Interventions
- Other Natural History Study
Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy
Primary outcome measures
- 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]
Secondary outcome measures (7)
- Best-corrected Visual Acuity (BCVA) [Time frame: Up to 3 years]
- Color Fundus Photos [Time frame: Up to 3 years]
- Macular Integrity Assessment (MAIA) Microperimetry [Time frame: Up to 3 years]
- Goldman Kinetic Visual Field [Time frame: Up to 3 years]
- Light-adapted Static Perimetry [Time frame: Up to 3 years]
- Dark-adapted Chromatic Perimetry [Time frame: Up to 3 years]
- Full-field Stimulus Testing [Time frame: Up to 3 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Columbia University Irving Medical Center — New York
France · 1 center
- Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologi — Paris
Germany · 1 center
- Eberhard Karls University Tubingen — Tübingen
Identifiers
NCT: NCT05809635 · AAAT5994 · R24EY028758