The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with EYS mutations in order to accelerate the development of outcome measures for clinical trials.
This natural history study of patients with EYS mutations will accelerate the development of outcome measures for clinical trials. Sensitive, reliable outcome measures of retinal degeneration will greatly facilitate development of treatments for retinitis pigmentosa due to EYS mutations. Together these approaches are expected to have an impact on understanding EYS-related retinal degeneration, developing experimental treatment protocols, and assessing their effectiveness. The goals and expected impact of this natural history study are to: 1. Describe the natural history of retinal degeneration in patients with biallelic mutations in the EYS gene 2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in EYS-related retinal degeneration 3. Identify well-defined subpopulations for future clinical trials of investigative treatments for EYS-related retinal degeneration Study Objectives The primary objectives of the natural history study are to: 1. Characterize the natural history of retinal degeneration associated with biallelic pathogenic mutations in the EYS gene over 4 years, as measured using functional, structural, and patient-reported outcome measures 2. Investigate whether structural outcome measures can be validated as surrogates for functional outcomes in individuals with biallelic pathogenic mutations in the EYS gene 3. Evaluate possible risk factors (genotype, phenotype, environmental, and comorbidities) for progression of the outcome measures at 4 years in individual with biallelic pathogenic mutations in the EYS gene 4. Evaluate variability and symmetry of left and right eye outcomes over 4 years in individuals with biallelic pathogenic mutations in the EYS gene
Study Type
OBSERVATIONAL
Enrollment
103
University of California, San Francisco
San Francisco, California, United States
Colorado Retina Associates
Denver, Colorado, United States
Change in Visual Field Sensitivity
Measured by static perimetry with topographic analysis (Hill of Vision) and assessed by a central reading center for cohorts 1 and 2.
Time frame: Baseline and every year until study completion (4 years)
Change in Best Corrected Visual Acuity
Measured on the Electronic Visual Acuity (EVA) system or ETDRS charts. Berkeley Rudimentary Vision Test (BRVT) will be used for patients unable to see letters.
Time frame: Screening visit and every year until study completion (4 years) with the exception of baseline for cohorts 1 and 2. Screening visit and 48 month follow-up for cohort 3.
Change in Mean Retinal Sensitivity
Measured by fundus-guided microperimetry (MP) and assessed by a central reading center at selected sites with requisite equipment for cohorts 1 and 2.
Time frame: Baseline and every year until study completion (4 years).
Change in Full-field Retinal Sensitivity
Measured by full-field stimulus threshold (FST) testing to blue, white, and red stimuli
Time frame: Baseline and every year until study completion (4 years) for cohort 1 and 2. Baseline and 4 year follow-up for cohort 3.
Change in Best Corrected Low Luminance visual acuity
Measured by letter score
Time frame: Screening visit and every year until study completion (4 years) with the exception of baseline for cohorts 1 and 2. Screening visit and 48 month follow-up for cohort 3.
Change in Contrast Sensitivity Function
Measured by the CSV-1000E VectorVision chart for cohorts 1 and 2.
Time frame: Baseline and every year until study completion (4 years).
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Vitreo-Retinal Associates
Gainesville, Florida, United States
University of Miami: Neuro-ophthalmology Department
Miami, Florida, United States
Emory Eye Center
Atlanta, Georgia, United States
Wilmer Eye Institute at Johns Hopkins
Baltimore, Maryland, United States
Massachusetts Eye and Ear
Boston, Massachusetts, United States
Kellogg Eye Center, University of Michigan
Ann Arbor, Michigan, United States
Duke University Eye Center
Durham, North Carolina, United States
Oregon Health Science University Casey Eye Institute
Portland, Oregon, United States
...and 9 more locations
Change in Retinal Function
Measured by full-field electroretinogram (ERG) amplitudes and timing in response to rod- and cone-specific stimuli for cohorts 1 and 2.
Time frame: Baseline and 4 year follow-up visit.
Change in Ellipsoid zone (EZ) area
Measured by spectral domain optical coherence tomography (SD-OCT) and assessed by a central reading center
Time frame: Baseline and every year until study completion (4 years) for cohorts 1 and 2. Baseline and 4 year follow-up for cohort 3.
Explore Qualitative categorization of Fundus Autofluorescence (FAF) pattern
Assessed by a central reading center
Time frame: Baseline and every year until study completion (4 years) for cohorts 1 and 2. Baseline and 4 year follow-up for cohort 3.
Explore quantitative measures of FAF
assessed by a central reading center
Time frame: Baseline and every year until study completion (4 years) for cohorts 1 and 2. Baseline and 4 year follow-up for cohort 3.