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Scientists hunt for eye disease genes in 2,000-Person study

NCT ID NCT02077894

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 15 times

Summary

This study aims to find the genetic causes of inherited eye conditions by analyzing the DNA of 2,000 people, including affected individuals and their family members. Researchers will use whole exome or whole genome sequencing to look for new or known gene mutations. The goal is to improve understanding and diagnosis of these eye diseases.

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 linked to inherited eye diseases, leading to better genetic testing and diagnosis for patients and families.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and finding a genetic cause is not guaranteed for everyone.

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 2,000 people

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

Started

Aug 2014

Expected to finish

Aug 2029

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

This study seeks to recruit patients with a diagnosis of inherited or congenital eye condition whose phenotype was confirmed either at the National Eye Institute (NEI) or through an outside clinician such as an ophthalmologist or geneticist. Select unaffected family members (in many cases, parents) will also be recruited in order to facilitate data analysis.

Ages

1 day 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, participants must meet the following criteria: 1. Participant is affected with an eye condition under study or is a family member of an affected individual who will be informative for ES/GS analysis and interpretation. 2. Participant or legally authorized representative (LAR) of participant understands and signs the informed consent document. EXCLUSION CRITERIA: 1. Participants who cannot comply with study procedures are ineligible. 2. Participants who are minors are ineligible if they do not have a parent/LAR who can consent and make decisions on their behalf. Participants who are or become decisionally impaired are ineligible if they do not have, or are unable to obtain, a legally authorized representative who can consent and make decisions on their behalf. 3. Participants who are minors and under joint custody are ineligible if parents disagree about study participation. 4. Prospective participants or their parent/LAR who, based on the judgment of the team, appear to have impaired ability to understand and appropriately use complex medical and genetic information, or to cope with potentially life altering medical information, will be ineligible.

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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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