Actively Recruiting
Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Led by National Eye Institute (NEI) · Updated on 2026-05-28
2000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying inherited and congenital eye conditions to identify their genetic causes using whole exome or whole genome sequencing. This includes finding mutations in known genes, discovering new gene mutations for recognized conditions, and exploring mutations in novel genes for previously uncharacterized eye conditions. The study aims to provide molecular information for conditions without current genetic diagnoses. The study plans to enroll 2,000 participants, including both individuals affected by an eye condition and their unaffected family members, ideally parents of affected participants. Participants may be evaluated onsite at the National Institutes of Health (NIH) or offsite through phone or secure videoconference. Both affected and unaffected participants will provide blood or saliva samples for genetic sequencing and receive genetic counseling. Biological relationships will be confirmed before sequencing, and clinically relevant genetic findings will be validated in a certified laboratory. Participants will be involved through genetic counseling sessions, providing biological samples, and possibly sharing medical records. Results of genetic analyses will be returned in person, by secure videoconference, or by telephone. The study will generate new genetic information until the affected participant receives confirmed primary results. Unaffected family members’ participation continues until their affected relative receives results. This observational study is sponsored by the National Eye Institute and may last several years, with ongoing involvement until results are returned.
CONDITIONS
Brief Title
Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant has an eye condition under study or is a family member who can help with genetic analysis
- Participant or their legal representative understands and signs informed consent
You will not qualify if you...
- Cannot comply with study procedures
- Minors without a parent or legal representative to consent
- Minors under joint custody if parents disagree about participation
- Individuals unable to understand or cope with complex genetic information as judged by the study team
- Participants who become decisionally impaired without a legal representative
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 or remote via phone or videoconference)
Duration - Up to several weeks until sequencing and analysis are complete
Participants undergo genetic counseling and provide blood and/or saliva samples for whole exome or whole genome sequencing to identify genetic causes of inherited eye conditions.
1 visit for sample collection and counseling
Duration - Until affected participant has received confirmed Primary Results (PRs), which may take months to years
Participants receive results of genetic testing and may have ongoing involvement depending on family member participation and result confirmation.
Results returned through 1 or more visits (in-person, videoconference, or telephone)
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center,
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
D
Delphine M Blain, CGC
B
Bin Guan, Ph.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
2
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