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Eye disease study aims to pave way for future treatments

NCT ID NCT03146078

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 This study
Running, but no longer taking on new participants.
Completed
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jul 24, 2026 · Updated 2 times

Summary

This study follows 127 people with a genetic eye condition called USH2A-related retinal degeneration, which can cause vision loss and hearing problems. Researchers measure changes in vision, retinal sensitivity, and mobility over several years. The goal is to understand how the disease progresses so that future treatments can be tested more effectively. No new drugs or treatments are given in this study.

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

127 people

The number who actually took part.

Started

Aug 2017

Expected to finish

Dec 2029

An estimate. End dates often move.

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 will be assessed during a routine examination by an investigator prior to obtaining informed consent, as part of usual care

Ages

8 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: * Willing and able to complete the informed consent process * Ability to return for all study visits over 48 months if in the natural history study * Age ≥ 8 years * At least 2 pathogenic or likely pathogenic mutations in USH2A gene from a clinically certified lab report Ocular Inclusion Criteria Both eyes must meet all of the following: * Clinical diagnosis of a rod-cone degeneration * Clear ocular media and adequate pupil dilation to permit good quality photographic imaging * Ability to perform kinetic and static perimetry reliably Exclusion Criteria: * Mutations in genes that cause autosomal dominant RP, X-linked RP, or presence of biallelic mutations in autosomal recessive RP/retinal dystrophy genes other than USH2A * 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) Ocular Exclusion Criteria If either eye has any of the following, the patient 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 glaucoma visual field, nerve changes, or glaucoma filtering surgery) * Current or any history of retinal vascular occlusion or proliferative diabetic retinopathy * Expected to have cataract removal surgery during the study * History or current evidence of ocular disease that, in the opinion of the investigator, may confound assessment of visual function * History of treatment for retinitis pigmentosa that could affect the progression of retinal degeneration (including participation in a clinical trial within the last year or a retained drug delivery device)

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Conditions

The condition(s) this trial relates to.

retinitis pigmentosa 39 Usher syndrome type 2A

As listed by the trial registrant

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

Retinitis pigmentosa 39 Usher syndrome, type 2A

Contacts and locations

Locations

  • Baylor Eye Physicians and Surgeons

    Houston, Texas, 77030, United States

  • Centre hospitalier National d'Ophtalmologie des Quinze-Vingts

    Paris, 75012, France

  • 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

  • Moorfields Eye Hospital

    London, United Kingdom

  • Moran Eye Center, University of Utah

    Salt Lake City, Utah, 84107, United States

  • OHSU 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 Tubingen

    Tübingen, Germany

  • Vitreo-Retinal Associates

    Gainesville, Florida, 32607, United States

  • Wilmer Eye Institute at Johns Hopkins

    Baltimore, Maryland, 21287-9277, United States