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

NCT06491615 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2026-05-04

No results posted yet for this study

Summary

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.

Conditions

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

Sponsors & Collaborators

  • National Eye Institute (NEI)

    lead NIH

Principal Investigators

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

Eligibility

Min Age
1 Day
Max Age
120 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-07-12
Primary Completion
2054-06-27
Completion
2054-06-27

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06491615 on ClinicalTrials.gov