Retinitis PigmentosaRUS_EYSNCT07228793
Natural History Study of Patients With EYS-Associated RP
An observational study of Retinitis Pigmentosa and Eye Diseases, run by Sensor Technology for Deafblind at 1 site in Russia.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 14 to 100 years
- Conditions the study is for
- Retinitis Pigmentosa, Eye Diseases
- What is being tested?
- Whole exome/genome sequencing
- How many people
- 45 participants
- Where
- 1 siteRussia
- Study dates
- 7 Nov 2025to 30 Mar 2030
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 14 to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study 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.
Who may be able to join
- 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
- Must meet one of the Genetic Screening Criteria, defined below:
- Screening Group A: At least 2 disease-causing variants in the EYS gene which are homozygous or heterozygous in trans, based on a report from a clinically-certified lab (or a report from a research lab that has been pre-approved by the Study Committee) Screening Group B: Only 1 disease-causing variant in the EYS gene, based on a report from a clinically-certified lab (or a report from a research lab which has been pre-approved by the Study Committee) Screening Group C: At least 2 disease-causing variants in the EYS gene which are unknown phase, based on a report from a clinically-certified lab (or a report from a research lab which has been pre-approved by the Study Committee) Note pertaining to all Screening Groups: if a participant has a variant(s) of unknown significance, he/she would still qualify as long as there is at least 1 disease-causing variant(s) on the EYS gene.
- Ocular Inclusion Criteria:
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- Both eyes must meet all of the following:
- Clinical diagnosis of retinal dystrophy
- Clear ocular media and adequate pupil dilation to permit good quality photographic imaging
Who cannot join
- 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)
- Ocular exclusion Criteria:
- If either eye has any of the following, the participant is not eligible:
- Current vitreous hemorrhage
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- Current or any history of rhegmatogenous retinal detachment
- Current or any history of (e.g., prior to cataract or refractive surgery) spherical equivalent of the refractive error worse than -8 Diopters of myopia
- History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months
- Current or any history of confirmed diagnosis of glaucoma (e.g., based on glaucomatous visual functions changes or nerve changes, or history of glaucoma filtering surgery)
- Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy
- History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function
- History or evidence of active treatment for retinitis pigmentosa that could affect the progression of retinal degeneration, including:
- Any use of ocular stem cell or gene therapy
- Treatment with an ophthalmic oligonucleotide within the last 9 months (last treatment date is less than 9 months prior to Screening Visit date)
- Treatment with any other product within five times the expected half-life of the product (time from last treatment date to Screening Visit date is at least 5 times the half-life of the given product)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Russia1 site, 1 recruiting
- Recruiting
Oftalmic Clinical Research Center
Moscow, 125167
Marianna E Weener, MD, PhD, +7 903 758 66 19, info@oftalmic.com
About this study
Official title: Natural History Prospective Open Clinical and Genetic Study of Patients With EYS-Associated Retinitis Pigmentosa
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.
Read the detailed description
- Characterize the natural history of retinal degeneration associated with biallelic pathogenic mutations in the EYS gene over 4 years, as measured using functional, structural, and patient-reported outcome measures
- Investigate whether structural outcome measures can be validated as surrogates for functional outcomes in individuals with biallelic pathogenic mutations in the EYS gene
- Evaluate risk factors (genotype, phenotype, environmental, and comorbidities) for progression of the outcome measures at 4 years in individuals with biallelic pathogenic mutations in the EYS gene
- Evaluate variability and symmetry of left and right eye outcomes over 4 years in individuals with biallelic pathogenic mutations in the EYS gene
- Conditions
- Retinitis Pigmentosa, Eye Diseases
- Being tested
- Whole exome/genome sequencing
- Keywords
- EYS mutation, RP, Retinitis pigmentosa
- Medical subject headings
- Retinitis Pigmentosa, Eye Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole exome/genome sequencingDiagnostic test
Next generation sequencing and segregation analysis or long read sequencing for confirmation of biallelic mutations (in trans-position)
| Study group | Role | What they receive |
|---|---|---|
| Vision Cohort 1 | Participants with the better eye Screening Visit decimal visual acuity of 0.4 or more and visual field diameter 10 degrees or more in every meridian of the central field. Receives: Diagnostic Test: Whole exome/genome sequencing | |
| Vision Cohort 2 | Participants with the better eye Screening Visit decimal visual acuity 0.15 - 0.35 and visual field diameter less than 10 degrees in any meridian of the central field) Receives: Diagnostic Test: Whole exome/genome sequencing | |
| Vision Cohort 3 | Participants with the better eye Screening Visit decimal visual acuity 0.14 or less. Receives: Diagnostic Test: Whole exome/genome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Visual Field Sensitivity
Measured by static perimetry with topographic analysis and assessed by a certified reading center for cohorts 1 and 2.
Measured: Baseline and every year until study completion (4 years)
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.
Measured: Baseline and 4 year follow-up visit.
Secondary outcomes (6)
Change in Best Corrected Visual Acuity
Measured on Golovina-Sivtsev charts
Measured: Screening visit and every year until study completion (4 years) for cohort 1&2. Screening visit and 48 month follow-up for cohort 3.
Change in Mean Retinal Sensitivity
Measured by fundus-guided microperimetry (MP) and assessed by a certified reading center for cohorts 1 and 2.
Measured: Baseline and every year until study completion (4 years)
Change in Best Corrected Low Luminance visual acuity
Measured by letter score
Measured: Screening visit and every year until study completion (4 years) for cohort 1&2. Screening visit and 48 month follow-up for cohort 3.
Change in Contrast Sensitivity Function
Measured by Zebra software for cohorts 1 and 2.
Measured: Baseline and every year until study completion (4 years).
Change in Ellipsoid zone (EZ) area
Measured by spectral domain optical coherence tomography (SD-OCT) and assessed by a certified expert
Measured: Baseline and every year until study completion (4 years) for cohorts 1 and 2. Baseline and 4 year follow-up for cohort 3.
Explore qualitative and quantitative categorization of Fundus Autofluorescence (FAF) pattern
Assessed by a certified expert
Measured: Baseline and every year until study completion (4 years) for cohorts 1 and 2. Baseline and 4 year follow-up for cohort 3.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Nov 2025
- Study start7 Nov 2025
- Primary completion15 Dec 2029 (estimated)
- Study completion30 Mar 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinitis PigmentosaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 45 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Sensor Technology for Deafblind
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Russian RetinaFond
- Responsible party
- Principal investigator, Marianna E. Weener, Medical Center Oftalmika
- Investigators
- Marianna Weener, MD, PhD, Principal investigator, Oftalmic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07228793
- Sponsor's protocol ID
- EYS_RUS_2025
- Acronym
- RUS_EYS
- Status last verified
- Apr 2026
- First submitted
- 13 Nov 2025
- Last updated
- 28 Apr 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: A de-identified database will be placed in the public domain on the Oftalmic public website after the completion of each protocol and publication of the manuscript.
Study at a glance
From the registry record, last updated by the sponsor on 28 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Prospective Open Clinical and Genetic Study of Patients With EYS-Associated Retinitis Pigmentosa
- ClinicalTrials.gov ID
- NCT07228793
- Acronym / sponsor ID
- RUS_EYS / EYS_RUS_2025
- Conditions
- Retinitis Pigmentosa, Eye Diseases
- Keywords
- EYS mutation, RP, Retinitis pigmentosa
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- Sensor Technology for DeafblindIndustry (pharma, biotech, devices)
- Collaborators
- Russian RetinaFond
- Study start
- 7 Nov 2025 (actual)
- Primary completion
- 15 Dec 2029 (estimated)
- Study completion
- 30 Mar 2030 (estimated)
- First posted
- 14 Nov 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
- Characterize the natural history of retinal degeneration associated with biallelic pathogenic mutations in the EYS gene over 4 years, as measured using functional, structural, and patient-reported outcome measures
- Investigate whether structural outcome measures can be validated as surrogates for functional outcomes in individuals with biallelic pathogenic mutations in the EYS gene
- Evaluate risk factors (genotype, phenotype, environmental, and comorbidities) for progression of the outcome measures at 4 years in individuals with biallelic pathogenic mutations in the EYS gene
- Evaluate variability and symmetry of left and right eye outcomes over 4 years in individuals with biallelic pathogenic mutations in the EYS gene
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Vision Cohort 1 | – | Diagnostic Test: Whole exome/genome sequencingParticipants with the better eye Screening Visit decimal visual acuity of 0.4 or more and visual field diameter 10 degrees or more in every meridian of the central field. |
| Vision Cohort 2 | – | Diagnostic Test: Whole exome/genome sequencingParticipants with the better eye Screening Visit decimal visual acuity 0.15 - 0.35 and visual field diameter less than 10 degrees in any meridian of the central field) |
| Vision Cohort 3 | – | Diagnostic Test: Whole exome/genome sequencingParticipants with the better eye Screening Visit decimal visual acuity 0.14 or less. |
Who may qualify
- Ages
- 14 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study 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.
Key inclusion criteria (9 listed)
- 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
- Must meet one of the Genetic Screening Criteria, defined below:
- Screening Group A: At least 2 disease-causing variants in the EYS gene which are homozygous or heterozygous in trans, based on a report from a clinically-certified lab (or a report from a research lab that has been pre-approved by the Study Committee) Screening Group B: Only 1 disease-causing variant in the EYS gene, based on a report from a clinically-certified lab (or a report from a research lab which has been pre-approved by the Study Committee) Screening Group C: At least 2 disease-causing variants in the EYS gene which are unknown phase, based on a report from a clinically-certified lab (or a report from a research lab which has been pre-approved by the Study Committee) Note pertaining to all Screening Groups: if a participant has a variant(s) of unknown significance, he/she would still qualify as long as there is at least 1 disease-causing variant(s) on the EYS gene.
Key exclusion criteria (16 listed)
- 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
- Current or any history of rhegmatogenous retinal detachment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole exome/genome sequencingNext generation sequencing and segregation analysis or long read sequencing for confirmation of biallelic mutations (in trans-position) | Diagnostic test | Vision Cohort 1, Vision Cohort 2, Vision Cohort 3 |
Primary outcome
Change in Visual Field Sensitivity
Time frame: Baseline and every year until study completion (4 years)
Measured by static perimetry with topographic analysis and assessed by a certified reading center for cohorts 1 and 2.
Change in Retinal Function
Time frame: Baseline and 4 year follow-up visit.
Measured by full-field electroretinogram (ERG) amplitudes and timing in response to rod- and cone-specific stimuli for cohorts 1 and 2.
6 secondary outcomes
Change in Best Corrected Visual Acuity
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.
Change in Mean Retinal Sensitivity
Time frame: Baseline and every year until study completion (4 years)
Change in Best Corrected Low Luminance visual acuity
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.
Change in Contrast Sensitivity Function
Time frame: Baseline and every year until study completion (4 years).
Change in Ellipsoid zone (EZ) area
Time frame: Baseline and every year until study completion (4 years) for cohorts 1 and 2. Baseline and 4 year follow-up for cohort 3.
Explore qualitative and quantitative categorization of Fundus Autofluorescence (FAF) pattern
Time frame: Baseline and every year until study completion (4 years) for cohorts 1 and 2. Baseline and 4 year follow-up for cohort 3.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Apr 2026.
- Individual participant dataSharing planned: Yes. A de-identified database will be placed in the public domain on the Oftalmic public website after the completion of each protocol and publication of the manuscript.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Marianna Weener, MD, PhD principal investigator
Oftalmic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinitis Pigmentosa and Eye Diseases, run by Sensor Technology for Deafblind at 1 site in Russia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 16 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Russia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Olga Luneva (+7 9629412912, info@oftalmic.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Visual Field Sensitivity (time frame: Baseline and every year until study completion (4 years)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Apr 2026.