International Study of Rare Genetic Variants Causing Retinal Dystrophies with Registry and Long-Term Natural History Tracking

What this Trial Is About

This research focuses on inherited retinal dystrophies caused by rare genetic variants. It is an international, multicenter observational study that includes a registry and a natural history study. The registry collects genetic and clinical data across many genes linked to retinal dystrophies, while the natural history study follows participants over time to better understand disease progression, structural and functional changes, and risk factors. This study aims to aid future clinical trials by identifying sensitive outcome measures and well-defined patient subgroups. Participants will first undergo a screening phase where their prior genetic test reports are reviewed to confirm eligibility based on specific genetic criteria. Those meeting criteria enter the registry phase, which involves annual phone follow-ups up to four years or until further enrollment into the natural history study, if their gene is selected for this phase. The natural history study includes in-person baseline and follow-up clinic visits with detailed assessments to track disease changes over time. During the study, participants undergo various visual function tests such as visual acuity, visual field sensitivity, contrast sensitivity, color vision, and retinal function measurements annually for up to four years. Structural changes in the retina are also assessed yearly using imaging techniques. Participants may be assigned to different cohorts based on age and vision status, with tailored testing schedules. The study monitors changes through standardized evaluations and collects data to characterize the natural progression of retinal dystrophies linked to rare genetic variants.

Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants