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Massive gene hunt for inherited eye diseases launches

NCT ID NCT02471287

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Sep 17, 2026 · Updated 12 times

Summary

This study aims to uncover the genes behind inherited eye diseases by enrolling up to 1,500 people with known or suspected genetic eye conditions, along with their relatives. Participants will undergo eye exams, genetic testing, and various other tests to help researchers understand how these diseases develop and vary. The goal is to build a foundation for future disease-specific studies and improve diagnosis and monitoring.

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 identify new genes causing inherited eye diseases and suggest better ways to track disease progression.
What could go wrong
This is an observational study, not a treatment trial. It may not directly lead to new therapies, and results depend on participant diversity and cooperation.

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 1,500 people

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

Started

Jun 2015

Expected to finish

Sep 2030

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

A total of 1500 participants may be enrolled into this study. One thousand one-hundred (1,100) participants with known or suspected eye diseases and 400 healthy volunteers (unaffected relatives of affected participants) will be accrued for this study. Self-referral is permitted and participants may enroll as a referral from another NEI study.

Ages

1 year to 120 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: Participants will be eligible if they: 1. Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease. 2. Have the ability to cooperate with an age-appropriate eye exam. 3. Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able to provide consent. EXCLUSION CRITERIA: Participants will not be eligible if: 1. They are unwilling or unable to be followed as clinically indicated. 2. They have a clear, non-genetic disease etiology (unless they are an unaffected relative). 3. Their participation would not contribute to the NEI research mission, at the discretion of the PI. Exclusion Criteria for MRI (if applicable) Participants will not be eligible for optional MRI procedure if: 1. They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye. 2. They have claustrophobia and would feel uncomfortable in the MRI machine. 3. They are not able to lie comfortably on their back for up to one (1) hour.

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As listed by the trial registrant

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

Genetic 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

    1 site. 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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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