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

June 6, 2026 updated by: National Eye Institute (NEI)

National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases

Background:

The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE (Registered Trademark) to include more people for certain eye diseases.

Objective: To collect information and DNA samples for the study of eye diseases.

  • Primary objective

    --To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual

  • Secondary objectives

    • To enhance recruitment for clinical trials and investigations in inherited eye diseases

      • To establish genotype-phenotype correlations for rare eye diseases

Eligibility:

People of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed.

Design:

Researchers will select participants based on their diagnosis. The data may include images and test results from eye exams.

Participants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH.

Participants may be asked to provide a blood sample. The blood may be drawn at the NIH or at a local clinic.

The eyeGENE (Registered Trademark) repository will offer researchers data about the participants eye conditions. The data may include pictures of their eyes, results of the genetic testing, and history of other diseases. Researchers will be able to see data such as age and gender, but they will not see names, dates of birth, or contact information.

Study Overview

Status

Recruiting

Conditions

Detailed Description

STUDY DESCRIPTION:

Molecular genetics has revolutionized the diagnosis and treatment of inherited eye diseases. Progress in research on inherited eye disease is augmented by the availability of patient DNA coupled to phenotypic information. To expand the current eyeGENE (Registered Trademark) data repository, participants will be accrued from targeted rare and ultra-rare disease populations.

OBJECTIVES:

Primary Objective:

-To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual

Secondary Objectives:

  • To enhance recruitment for clinical trials and investigations in inherited eye diseases
  • To establish genotype-phenotype correlations for rare eye diseases

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • Recruiting
        • National Institutes of Health Clinical Center
        • Contact:
          • NIH Clinical Center Office of Patient Recruitment (OPR)
          • Phone Number: TTY dial 711 800-411-1222
          • Email: ccopr@nih.gov
      • Bethesda, Maryland, United States, 20892
        • Recruiting
        • National Eye Institute (NEI)
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Participants with inherited eye diseases or their unaffected relatives.

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Participants
Participants with inherited eye diseases or relative of affected participant

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To expand the current eyeGENE data repository with targeted participant accrual.
Time Frame: 30 years
To expand the current eyeGENE data repository with targeted participant accrual.
30 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To enhance recruitment for clinical trials and investigations in inherited eye diseases.
Time Frame: 30 years
To enhance recruitment for clinical trials and investigations in inherited eye diseases.
30 years
To establish genotype-phenotype correlations for rare eye diseases.
Time Frame: 30 years
To establish genotype-phenotype correlations for rare eye diseases.
30 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Eye Institute (NEI)

Investigators

  • Principal Investigator: Brian P Brooks, M.D., National Eye Institute (NEI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 12, 2024

Primary Completion (Estimated)

June 27, 2054

Study Completion (Estimated)

June 27, 2054

Study Registration Dates

First Submitted

July 8, 2024

First Submitted That Met QC Criteria

July 8, 2024

First Posted (Actual)

July 9, 2024

Study Record Updates

Last Update Posted (Actual)

June 9, 2026

Last Update Submitted That Met QC Criteria

June 6, 2026

Last Verified

June 5, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 10001647
  • 001647-EI

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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