Natural History Study of Patients With EYS-Associated RP
Natural History Prospective Open Clinical and Genetic Study of Patients With EYS-Associated Retinitis Pigmentosa
About This Trial
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.
Who May Be Eligible (Plain English)
Original Eligibility Criteria
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Treatments Being Tested
Whole exome/genome sequencing
Next generation sequencing and segregation analysis or long read sequencing for confirmation of biallelic mutations (in trans-position)