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RECRUITINGOBSERVATIONAL

Study of BEST1 Vitelliform Macular Dystrophy

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

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: - Ability to provide willing to sign a consent form - 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) Who Should NOT Join This Trial: - Systemic condition that prevents the participant from undergoing the exams Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
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

Treatments Being Tested

OTHER

Natural History Study

Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy

Locations (3)

Columbia University Irving Medical Center
New York, New York, United States
Institut de la Vision/Centre de maladies rares du Centre Hospitalier National Ophtalmologique des Quinze-Vingts
Paris, France
Eberhard Karls University Tubingen
Tübingen, Germany