genetic eye disease retinal dystrphy
Conditions
Interventions
None listed
Sponsors
JAEB Center For Health Research
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: • Have retinal degeneration • Have one or more mutations in one of your genes that is the cause of your retinal degeneration • Be willing and able to give consent • Be willing to have annual study phone calls over four years • Have eyes in which photographic imaging is possible • Be at least 4 years old
Exclusion criteria
Exclusion criteria: • Have a history of treatment that could have affected the retina • Have a history of certain eye conditions or surgeries that may affect the tests for this study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The list of candidate endpoints to measure and understand IRD progression is vast. Visual function outcomes, such as visual acuity (VA), contrast sensitivity, color vision, microperimetry (MP), full-field stimulus threshold (FST) and full-field electroretinogram (ffERG), measure performance of the components of the visual system in the clinical environment and represent the measures of what is clinically meaningful. Structural or anatomical measures, such as fundus autofluorescence (FAF) and optical coherence tomography (OCT), represent candidate biomarkers or surrogate endpoints that hold the potential to predict clinical benefit. Structural measures are an expanding area of IRD research due to new technologies and better imaging acquisition and interpretation techniques and is an area of priority identified by gap analyses. | — |
Secondary
| Measure | Time frame |
|---|---|
| Functional vision measures, which are designed to reflect real-life challenges in daily activities, include patient-reported outcomes. Although a variety of tools exist, little is known about their applicability within each genotype. | — |
Countries
Netherlands
Outcome results
None listed