Study of BEST1 Vitelliform Macular Dystrophy

Study Overview
=================
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: Report the natural history of retinal degeneration in participants with a clinical diagnosis of VMD with molecular confirmation of a pathogenic BEST1 mutation(s). Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials for the treatment of BESTROPHIN 1 VMD. 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 Identify well-defined patient populations for future clinical trials of investigative treatments for BEST1 VMD.

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

Conditions
-----------------
Best Vitelliform Macular Dystrophy, Retinitis Pigmentosa

Intervention / Treatment
-----------------
* Other: Natural History Study


Participation Criteria
=================
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
Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Best Vitelliform Macular Dystrophy (VMD) Participants<br>Participants with a clinical picture of Retinitis pigmentosa with dominant and recessive variants in the BEST1 gene | Other: Natural History Study<br>* Longitudinal assessment of participants with BEST1 Vitelliform Macular Dystrophy<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Medmont Dark Adapted Chromatic (DAC) Automated Perimeter |  | Up to 3 years | 
| Full-field electroretinogram (ERG) | ERG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol. | Up to 3 years | 
| Electroocoulogram (EOG) | EOG conducted under International Society for Clinical Electrophysiology of Vision (ISCEV) Protocol | Up to 3 years | 
| 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 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Best-corrected Visual Acuity (BCVA) |  | Up to 3 years | 
| Color Fundus Photos |  | Up to 3 years | 
| Macular Integrity Assessment (MAIA) Microperimetry |  | Up to 3 years | 
| Goldman Kinetic Visual Field |  | Up to 3 years | 
| Light-adapted Static Perimetry |  | Up to 3 years | 
| Dark-adapted Chromatic Perimetry |  | Up to 3 years | 
| Full-field Stimulus Testing |  | Up to 3 years |