Natural History Study of Patients With EYS-Associated RP
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age14-100
SponsorSensor Technology for Deafblind
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.
Eligibility criteria
Qualifiers
Willing to participate in the study and able to communicate consent during the consent process
Ability to return for all study visits over 48 months
Age ≥ 18 years
Clinical diagnosis of retinal dystrophy
Disqualifiers
Mutations in genes that cause autosomal dominant retinitis pigmentosa (ADRP), X-linked retinitis pigmentosa (RP), or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than EYS.
Expected to enter experimental treatment trial at any time during this study
History of more than 1 year of cumulative treatment, at any time, with an agent associated with pigmentary retinopathy (including hydroxychloroquine, chloroquine, thioridazine, and deferoxamine)
Current vitreous hemorrhage
Trial design
Treatments tested in this trial
- Whole exome/genome sequencing
Treatment groups
45 Participants
are divided into 3 treatment groupsSponsors and collaborators
Sensor Technology for Deafblind
Lead sponsor
Medical Center Oftalmika
Sponsor institution
Russian RetinaFond
Collaborator
Source ClinicalTrials.gov