Natural History Study of Patients With EYS-Associated RP

NCT07228793 | Recruiting DMC

• 1 other identifier: EYS_RUS_2025
• Study Type: observational
• Target: 45
• Locations: 1 country
• Sites: 1

Brief 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. 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. 1.Describe the natural history of retinal degeneration in patients with biallelic mutations in EYS gene in Russia and former CIS territories.
2. 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. 3.Identify well-defined subpopulations for future clinical trials of investigative treatments for EYS-related retinal degeneration in Russia and former CIS territories.

Conditions

Retinitis Pigmentosa; Eye Diseases

Keywords

EYS mutation; RP; Retinitis pigmentosa

Outcome Measures

Primary Outcomes (2)

• Change in Visual Field Sensitivity

  Measured by static perimetry with topographic analysis and assessed by a certified reading center for cohorts 1 and 2.

  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.

  Baseline and 4 year follow-up visit.

Secondary Outcomes (6)

• Change in Best Corrected Visual Acuity

  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

  Baseline and every year until study completion (4 years)

• Change in Best Corrected Low Luminance visual acuity

  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

  Baseline and every year until study completion (4 years).

• Change in Ellipsoid zone (EZ) area

  Baseline and every year until study completion (4 years) for cohorts 1 and 2. Baseline and 4 year follow-up for cohort 3.

Other Outcomes (1)

• Patient Reported Outcomes for Vision Cohorts 1, 2 and 3

  Baseline and 4 year follow-up visit

Study Arms (3)

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.

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)

Diagnostic Test: Whole exome/genome sequencing

Vision Cohort 3

Participants with the better eye Screening Visit decimal visual acuity 0.14 or less.

Diagnostic Test: Whole exome/genome sequencing

Interventions

Whole exome/genome sequencing DIAGNOSTIC_TEST

Next generation sequencing and segregation analysis or long read sequencing for confirmation of biallelic mutations (in trans-position)

Vision Cohort 1; Vision Cohort 2; Vision Cohort 3

Eligibility Criteria

• Age: 14 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

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.

You may qualify if:

• 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.
• 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

You may not qualify if:

• 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)
• If either eye has any of the following, the participant is not eligible:
• Current vitreous hemorrhage
• 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)

Sponsors & Collaborators

• Russian RetinaFond: collaborator
• Sensor Technology for Deafblind: lead

Study Sites (1)

Oftalmic Clinical Research Center

Moscow, 125167, Russia

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

peripheral venous blood

MeSH Terms

Conditions

Retinitis Pigmentosa; Eye Diseases

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Marianna Weener, MD, PhD

  Oftalmic

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Olga Luneva

CONTACT

+7 9629412912; info@oftalmic.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: INDUSTRY
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, PhD

Study Record Dates

• First Submitted: November 13, 2025
• First Posted: November 14, 2025
• Study Start: November 7, 2025
• Primary Completion (Estimated): December 15, 2029
• Study Completion (Estimated): March 30, 2030
• Last Updated: April 28, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share
• Shared Documents: CSR
• Time Frame: After manuscript is published
• Access Criteria: Users accessing data must enter an email address

Locations

RU (1)