Actively Recruiting

Age: 14Years - 100Years
All Genders
NCT07228793

Natural History Study of Patients With EYS-Associated RP

Led by Sensor Technology for Deafblind · Updated on 2026-04-28

45

Participants Needed

1

Research Sites

229 weeks

Total Duration

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Sponsors

S

Sensor Technology for Deafblind

Lead Sponsor

R

Russian RetinaFond

Collaborating Sponsor

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Natural History Study of Patients With EYS-Associated RP

Who Can Participate

Age: 14Years - 100Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Willing to participate and able to communicate consent
  • Able to return for all study visits over 48 months
  • Age 18 years or older
  • Must have at least one disease-causing variant in the EYS gene confirmed by certified or approved lab
  • Both eyes must have a clinical diagnosis of retinal dystrophy
  • Both eyes must have clear ocular media and allow adequate pupil dilation for imaging
Not Eligible

You will not qualify if you...

  • Mutations in genes causing autosomal dominant or X-linked retinitis pigmentosa, or biallelic mutations in other autosomal recessive retinal dystrophy genes besides EYS
  • Expected to enter experimental treatment trial during this study
  • History of more than 1 year cumulative treatment with agents linked to pigmentary retinopathy (e.g., hydroxychloroquine, chloroquine)
  • Either eye has current vitreous hemorrhage or history of rhegmatogenous retinal detachment
  • Either eye has spherical equivalent refractive error worse than -8 Diopters of myopia
  • Intraocular surgery in last 3 months
  • Diagnosis or history of glaucoma
  • History of retinal vascular occlusion or proliferative diabetic retinopathy
  • Ocular disease that may affect visual function assessment
  • History or current active treatment for retinitis pigmentosa affecting disease progression, including ocular stem cell or gene therapy
  • Treatment with ophthalmic oligonucleotides within last 9 months
  • Treatment with other products within five times their expected half-life before screening visit

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Oftalmic Clinical Research Center

Moscow, Russia, 125167

Actively Recruiting

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Research Team

O

Olga Luneva

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

3

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