New study aims to pave the way for treatments of a rare eye disease
NCT ID NCT07228793
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study follows 45 adults with retinitis pigmentosa caused by EYS gene mutations to understand how the disease progresses over 48 months. Researchers will measure vision changes using eye exams and genetic testing. The goal is to identify reliable ways to track the disease, which will help design better clinical trials for future treatments.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could help design better clinical trials for treatments targeting EYS-related retinitis pigmentosa.
- What could go wrong
- This is an observational study, not a treatment trial. It may not directly lead to a therapy, and results may not apply to all populations.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 45 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Nov 2025
- Expected to finish
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Mar 2030
An estimate. End dates often move.
- Lead sponsor
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A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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14 to 100 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: 1. Willing to participate in the study and able to communicate consent during the consent process 2. Ability to return for all study visits over 48 months 3. Age ≥ 18 years 4. 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: Both eyes must meet all of the following: 1. Clinical diagnosis of retinal dystrophy 2. Clear ocular media and adequate pupil dilation to permit good quality photographic imaging Exclusion Criteria: 1. 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. 2. Expected to enter experimental treatment trial at any time during this study 3. 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 * 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)
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Genom att skicka in godkänner du våra Användarvillkor
Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The study's own enquiry address
This study publishes an address for enquiries. See it below .
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Show contact details
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Genom att skicka in godkänner du våra Användarvillkor
Study contacts
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Contact
Email: •••••@•••••
Locations
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Oftalmic Clinical Research Center
RECRUITINGMoscow, 125167, Russia
Contact Email: •••••@•••••
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