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
This trial does not accept healthy volunteersQualifiers
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 population
Potential eligibility may be assessed as part of a routine care examination by an investigator prior to obtaining informed consent, as part of usual care, by referral from another physician, or self-referral.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Whole exome/genome sequencing
Diagnostic testNext generation sequencing and segregation analysis or long read sequencing for confirmation of biallelic mutations (in trans-position)
Treatment groups
45 Participants
are divided into 3 treatment groupsGroup A: Vision Cohort 11 intervention
Group B: Vision Cohort 21 intervention
Group C: Vision Cohort 31 intervention
Trial outcomes
Primary outcomes
1
Change in Visual Field Sensitivity
Measured by static perimetry with topographic analysis and assessed by a certified reading center for cohorts 1 and 2.
Time frame
Baseline and every year until study completion (4 years)2
Change in Retinal Function
Measured by full-field electroretinogram (ERG) amplitudes and timing in response to rod- and cone-specific stimuli for cohorts 1 and 2.
Time frame
Baseline and 4 year follow-up visit.Secondary outcomes
1
Change in Best Corrected Visual Acuity
Measured on Golovina-Sivtsev charts
Time frame
Screening visit and every year until study completion (4 years) for cohort 1&2. Screening visit and 48 month follow-up for cohort 3.2
Change in Mean Retinal Sensitivity
Measured by fundus-guided microperimetry (MP) and assessed by a certified reading center for cohorts 1 and 2.
Time frame
Baseline and every year until study completion (4 years)3
Change in Best Corrected Low Luminance visual acuity
Measured by letter score
Time frame
Screening visit and every year until study completion (4 years) for cohort 1&2. Screening visit and 48 month follow-up for cohort 3.4
Change in Contrast Sensitivity Function
Measured by Zebra software for cohorts 1 and 2.
Time frame
Baseline and every year until study completion (4 years).Other outcomes
1
Patient Reported Outcomes for Vision Cohorts 1, 2 and 3
Measured by modified MRDQ (Michigan Retinal Degeneration Questionnaire)
Time frame
Baseline and 4 year follow-up visitSponsors and contacts
Click on the lead sponsor to view all of their trials.
Sensor Technology for Deafblind
Lead sponsor
Medical Center Oftalmika
Sponsor institution
Russian RetinaFond
Collaborator
Source ClinicalTrials.gov