Status:
RECRUITING
Genetics of Inherited Eye Disease
Lead Sponsor:
National Eye Institute (NEI)
Conditions:
Genetic Eye Disease
Eligibility:
All Genders
1-120 years
Brief Summary
Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. The...
Detailed Description
OBJECTIVE: Molecular genetics and genomics are revolutionizing the delivery of medicine in general and ophthalmology in particular. New treatment and prevention strategies rely on a detailed understa...
Eligibility Criteria
- INCLUSION CRITERIA:
Participants will be eligible if they:
- Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.
- Have the ability to cooperate with an age-appropriate eye exam.
- Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able
to provide consent.
EXCLUSION CRITERIA:
Participants will not be eligible if:
- They are unwilling or unable to be followed as clinically indicated.
- They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
- Their participation would not contribute to the NEI research mission, at the discretion of the PI.
Exclusion Criteria for MRI (if applicable)
Participants will not be eligible for optional MRI procedure if:
- They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.
- They have claustrophobia and would feel uncomfortable in the MRI machine.
- They are not able to lie comfortably on their back for up to one (1) hour.
Key Trial Info
Start Date :
June 22 2015
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 1 2030
Estimated Enrollment :
1500 Patients enrolled
Trial Details
Trial ID
NCT02471287
Start Date
June 22 2015
End Date
September 1 2030
Last Update
October 2 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892