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Eye disease study aims to speed up future treatments

NCT ID NCT04127006

Knowledge-focused Sponsor: Jaeb Center for Health Research Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Aug 06, 2026 · Updated 2 times

Summary

This study follows 103 adults with a genetic eye condition called retinitis pigmentosa caused by EYS mutations. Researchers will track changes in vision and eye structure over 4 years. The goal is to better understand how the disease progresses so that future clinical trials can be designed more effectively.

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

103 people

The number who actually took part.

Started

Feb 2020

Finished

Feb 2026

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

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

18 years and older

Sex

Anyone

Healthy volunteers

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

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 Genetics 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 Genetics 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 Genetics 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: 1. Current vitreous hemorrhage 2. Current or any history of rhegmatogenous retinal detachment 3. 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 4. History of intraocular surgery (e.g., cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within the last 3 months 5. Current or any history of confirmed diagnosis of glaucoma (e.g., based on glaucomatous VF changes or nerve changes, or history of glaucoma filtering surgery) 6. Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy 7. History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function 8. History or evidence of active treatment for retinitis pigmentosa that could affect the progression of retinal degeneration, including: 1. Any use of ocular stem cell or gene therapy 2. Any treatment with ocriplasmin 3. Treatment with an ophthalmic oligonucleotide within the last 9 months (last treatment date is less than 9 months prior to Screening Visit date) 4. 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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Conditions

The condition(s) this trial relates to.

eye disorder EYS-related retinopathy retinitis pigmentosa

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Eye diseases Retinitis pigmentosa

Contacts and locations

Locations

  • Centre hospitalier National d'Ophtalmologie des Quinze-Vingts

    Paris, 75012, France

  • Colorado Retina Associates

    Denver, Colorado, 80230, United States

  • Duke University Eye Center

    Durham, North Carolina, 27710, United States

  • Emory Eye Center

    Atlanta, Georgia, 30322, United States

  • Hadassah Medical Center

    Jerusalem, Israel, Israel

  • Helsinki University Hospital

    Helsinki, Finland

  • Hospital for Sick Children

    Toronto, Canada

  • Kellogg Eye Center, University of Michigan

    Ann Arbor, Michigan, 48105, United States

  • Massachusetts Eye and Ear

    Boston, Massachusetts, 02114, United States

  • Oregon Health Science University Casey Eye Institute

    Portland, Oregon, 97239, United States

  • Radboud University

    Nijmegen, Netherlands

  • Retina Foundation of the Southwest

    Dallas, Texas, 75231, United States

  • University of California, San Francisco

    San Francisco, California, 94143-0344, United States

  • University of Miami: Neuro-ophthalmology Department

    Miami, Florida, 33136, United States

  • University of Pittsburgh Medical Center

    Pittsburgh, Pennsylvania, 15213, United States

  • University of Tubingen

    Tübingen, Germany

  • University of Wisconsin-Madison: McPherson Eye Research Institute

    Madison, Wisconsin, 53705, United States

  • Vitreo-Retinal Associates

    Gainesville, Florida, 32607, United States

  • Wilmer Eye Institute at Johns Hopkins

    Baltimore, Maryland, 21287-9277, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.