MedTrace Logo

Natural History Study of Patients With EYS-Associated RP

NCT07228793 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 45

Last updated 2026-04-28

No results posted yet for this study

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. 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

Interventions

DIAGNOSTIC_TEST

Whole exome/genome sequencing

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

Sponsors & Collaborators

  • Russian RetinaFond

    collaborator UNKNOWN

  • Sensor Technology for Deafblind

    lead INDUSTRY

Principal Investigators

  • Marianna Weener, MD, PhD · Oftalmic

Eligibility

Min Age
14 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-11-07
Primary Completion
2029-12-15
Completion
2030-03-30

Countries

  • Russia

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07228793 on ClinicalTrials.gov