Trials / NCT07228793
Natural History Study of Patients With EYS-Associated RP
Recruiting now Observational Natural history / observational
- Sponsor
- Sensor Technology for Deafblind
- Treatment
- Whole exome/genome sequencing
- Gene
- EYS
- Conditions
- Retinitis Pigmentosa, Eye Diseases
- Ages
- 14 Years to 100 Years
- Enrollment
- 45 participants
- Started
- 2025-11-07
- Main results expected
- 2029-12-15
- Results posted
- Not yet
- Record last updated
- 2026-04-28
What the study is testing
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:
- Describe the natural history of retinal degeneration in patients with biallelic mutations in EYS gene in Russia and former CIS territories.
- 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.
- Identify well-defined subpopulations for future clinical trials of investigative treatments for EYS-related retinal degeneration in Russia and former CIS territories.
Where it runs
Russia (1)
- Oftalmic Clinical Research Center, Moscow (recruiting now)