Actively Recruiting
National Ophthalmic Genotyping and Phenotyping Network Stage 3 Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Led by National Eye Institute (NEI) · Updated on 2026-05-04
1000
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying inherited eye diseases by expanding the eyeGENE program, a research resource that collects genetic and clinical information from people with various rare eye conditions. This effort aims to increase the number of participants with specific eye diseases such as aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, and pigmentation disorders like albinism. The goal is to enhance understanding of the genetic causes and improve recruitment for future clinical trials. Participants with inherited eye diseases or their close relatives will provide saliva samples using mailed kits with instructions, and some may also provide blood samples collected locally or at the NIH. The study will gather detailed data including eye images, genetic test results, and health history, which will be stored in the eyeGENE data repository for use by researchers. This is an observational study without investigational treatments. During the study, participants will provide genetic samples and clinical data, which may include eye exam images and test results. Researchers will analyze the data to find links between genetic changes and eye disease features over the 30-year study period. Personal information like names and contact details will be kept confidential. This long-term study allows researchers to better understand rare eye diseases and support future research and clinical trials.
CONDITIONS
Brief Title
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant has a diagnosis of aniridia, Best disease, blue-cone monochromacy, corneal dystrophy, or another hypopigmentation disorder affecting vision such as albinism
- Participant is a direct, close relative of an affected participant
- Participant previously took part in eyeGENE Stage 1 and may benefit from further genetic testing
- Participants of any age 1 year or older up to 120 years are eligible
You will not qualify if you...
- Individuals unable to make decisions and without a legally authorized representative
- Individuals unable to provide a saliva sample or with conditions making blood sample collection unsafe
- Individuals with a history of epilepsy are excluded from optional retinal imaging
- Children under 18 years are excluded from optional retinal imaging
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Ongoing for up to 30 years
Participants provide saliva or blood samples to contribute to the genetic data repository.
Visits as needed for sample collection
Duration - Ongoing for up to 30 years
Participants undergo genetic testing and phenotypic assessments to establish genotype-phenotype correlations.
Visits as needed for assessments
Duration - Up to 30 years
Participants are observed over time to support research and recruitment for clinical trials in inherited eye diseases.
Follow-up visits may occur periodically over the study duration
Trial Site Locations
Total: 2 locations
1
National Eye Institute (NEI)
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
E
eyeGene Coordinating Center
B
Brian P Brooks, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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