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Massive eye gene bank aims to unlock secrets of rare blindness

NCT ID NCT06491615

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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jun 27, 2026

Summary

This study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repository that helps scientists understand genetic causes and develop better treatments.

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 could help researchers find genetic causes of rare eye diseases and speed up development of new treatments.
What could go wrong
This is an observational study, not a treatment trial. It may not directly benefit participants, and results depend on future research.

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 1,000 people

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

Started

Jul 2024

Expected to finish

Jun 2054

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 or their unaffected relatives.

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: In order to be eligible to participate in this study, an individual must meet all of the following criteria: The participant must present with characteristics consistent with one of the following diagnoses: * Aniridia * Best disease * Blue-cone monochromacy * Corneal dystrophy * Other hypopigmentation disorder affecting vision (e.g., Oculocutaneous and ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome) OR The participant must be a direct, close relative of an affected participant. OR A participant who also participated in the eyeGENE Stage 1 protocol who may benefit from further genetic testing. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: * Those with impaired decision-making capability who do not have a legally-authorized representative. * Those unable to provide a saliva sample OR have any disease or condition that makes it unsafe for a subject to provide a suitable blood sample of at least 5 mL to yield more than 50 micrograms of DNA. An individual who meets any of the following criteria will be excluded from participation in the optional retinal imaging: * Those with a history of epilepsy. * Children under the age of 18.

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Conditions

The condition(s) this trial relates to.

albinism aniridia blue cone monochromacy Chediak-Higashi syndrome corneal dystrophy Hermansky-Pudlak syndrome hypopigmentation of the skin ocular albinism oculocutaneous albinism vitelliform macular dystrophy vitelliform macular dystrophy 2 vitiligo

As listed by the trial registrant

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

Albinism Aniridia Best disease Blue-cone monochromacy Corneal dystrophy Hypopigmentation disorder Inherited ophthalmic diseases

How to take part

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

  1. The places running it

    2 sites. 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 Eye Institute (NEI)

    RECRUITING

    Bethesda, Maryland, 20892, United States

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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