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Scientists hunt for genes behind inherited eye diseases

NCT ID NCT02771236

Knowledge-focused Sponsor: National Eye Institute (NEI) Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
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
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 07, 2026 · Updated 6 times

Summary

This study aims to identify the genes responsible for inherited eye diseases by examining people with these conditions and their family members. Participants will undergo a comprehensive eye exam, genetic testing via blood or saliva, and provide medical and family history. The goal is to better understand these diseases and improve diagnosis and classification.

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 research could improve diagnosis and categorization of inherited eye diseases, potentially guiding future prevention or treatment strategies.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and genetic findings may not lead to immediate therapies.

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

About 5,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Oct 2016

Expected to finish

Jan 2032

An estimate. End dates often move.

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Participants with inherited eye diseases.

Ages

4 to 120 years

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: To be eligible, the following inclusion criteria must be met, where applicable; 1. Participant must be four years of age or older. 2. Participant must understand and sign the protocol s informed consent document. 3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related. 4. All participants must be able to cooperate with study examination and phlebotomy. EXCLUSION CRITERIA: A participant is not eligible if any of the following exclusion criteria are present: 1. Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc. 2. Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections. 3. Participant requires sedation for study purposes.

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As listed by the trial registrant

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

Inherited eye disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    7 sites in 6 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. 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

Locations

  • Aravind Medical Research Foundation

    WITHDRAWN

    Madurai, India

  • Duke University Eye Center

    WITHDRAWN

    Durham, North Carolina, 27708, United States

  • Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University

    RECRUITING

    Guangzhou, China

  • National Centre of Excellence in Molecular Biology, University of the Punjab

    SUSPENDED

    Lahore, 53700, Pakistan

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

  • Seconda Universita di Napoli

    WITHDRAWN

    Naples, 80014, Italy

  • The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy

    RECRUITING

    Odesa, 6500, Ukraine

  • University of California, San Diego

    RECRUITING

    La Jolla, California, 92093-0603, United States

  • University of Exeter

    SUSPENDED

    Exeter, United Kingdom

  • University of the Philippines

    RECRUITING

    Manila, 4031, Philippines