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eyeGENE Expansion for Inherited Eye Diseases

This study, called eyeGENE, is expanding its collection of information and DNA samples from people with inherited eye diseases. Researchers want to learn more about the genetic causes of conditions like Best disease, blue-cone monochromacy, corneal dystrophy, and other hypopigmentation disorders affecting vision. The goal is to gather more data to help understand these diseases better and potentially lead to new treatments. This study is for people of all ages, from newborns to 120 years old, who have been diagnosed with one of these inherited eye conditions. The study aims to enroll 1000 participants and will track their information for 30 years.

Study design
This is an observational study, meaning researchers will collect information without testing a specific drug or intervention. It aims to enroll 1000 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants' data will be followed for 30 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06491615

National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases

Recruiting
Not specifiedAges 1+Observational
National Eye Institute (NEI)
~1,000 participants
Updated 2026-06-09 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To expand the current eyeGENE data repository with targeted participant accrual.
Measured over 30 years

Conditions

Inherited Ophthalmic Diseases
Hypopigmentation Disorder
Corneal Dystrophy
Blue-cone Monochromacy
Best Disease
Aniridia
Albinism

Explore related trials

AniridiaBest vitelliform macular dystrophyBlue cone monochromatismCorneal DystrophySkin Hyperpigmentation

NCT06491615

Where you'd take part

This study runs at 2 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Eye Institute (NEI)

    Bethesda, Marylandstudy coordinator listed

    Recruiting

  • National Institutes of Health Clinical Center

    Bethesda, Marylandno site contact published

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Brian P Brooks, M.D. · PRINCIPAL_INVESTIGATOR · National Eye Institute (NEI)

Who to contact

eyeGene Coordinating Center
[email protected]
(301) 435-3032
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

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Eligibility criteria

Inclusion

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)

Exclusion

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.
Those with a history of epilepsy.
Children under the age of 18.

What this trial measures

  • To expand the current eyeGENE data repository with targeted participant accrual.30 years

    To expand the current eyeGENE data repository with targeted participant accrual.