Natural History Study of Patients With EYS-Associated RP

This natural history study of patients with EYS mutations from Russia and former CIS (Commonwealth of Independent States) territories 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. This approach helps to develop experimental treatment protocol, and assessing its 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 EYS gene in Russia and former CIS territories. 2. Identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in EYS-related retinal degeneration in Russia and former CIS territories. 3. Identify well-defined subpopulations for future clinical trials of investigative treatments for EYS-related retinal degeneration in Russia and former CIS territories.

NCT Number	NCT07228793
Lead Sponsor	Sensor Technology for Deafblind Collaborators: Russian RetinaFond
Conditions	Retinitis Pigmentosa, Eye Diseases
Enrollment	45 participants
Start Date	2025-11-07
Primary Completion	2029-12-15 (estimated)
Study Completion	2030-03-30 (estimated)
Updated on ClinicalTrials.gov	2026-04-28