| NCT ID | NCT02471287 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Eye Institute (NEI) |
| Condition | Genetic Eye Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 1,500 participants |
| Start Date | 2015-06-22 |
| Primary Completion | 2030-09-01 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 1,500 participants in total. It began in 2015-06-22 with a primary completion date of 2030-09-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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. They also hope to learn more about how symptoms differ in people with similar gene changes. Objective: To learn more about genes involved in eye diseases. Eligibility: People who have a known or suspected inherited eye disease, and their relatives. Design: * All participants will have a medical history, physical exam, and eye exam. They will have blood taken. * Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure. * Participants may have a skin biopsy. A 3mm piece of skin will be removed. * Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells. * Participants may have a retina test. They may also have a test that uses light to measure retina thickness. * Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes. * Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels. * Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light. * Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen. * Participants may complete a color vision test. * Participants will provide a specimen for genetic testing. * Participants may have a MRI. * Participants may complete questionnaires.
Eligibility Criteria
* INCLUSION CRITERIA: Participants will be eligible if they: 1. 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. 2. Have the ability to cooperate with an age-appropriate eye exam. 3. 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: 1. They are unwilling or unable to be followed as clinically indicated. 2. They have a clear, non-genetic disease etiology (unless they are an unaffected relative). 3. 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: 1. 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. 2. They have claustrophobia and would feel uncomfortable in the MRI machine. 3. They are not able to lie comfortably on their back for up to one (1) hour.
Contact & Investigator
Laryssa A Huryn, M.D.
PRINCIPAL INVESTIGATOR
National Eye Institute (NEI)
Frequently Asked Questions
Who can join the NCT02471287 clinical trial?
This trial is open to participants of all sexes, aged 1 Year or older, up to 120 Years, studying Genetic Eye Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT02471287 currently recruiting?
Yes, NCT02471287 is actively recruiting participants. Contact the research team at daniel.claus@nih.gov for enrollment information.
Where is the NCT02471287 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT02471287 clinical trial?
NCT02471287 is sponsored by National Eye Institute (NEI). The principal investigator is Laryssa A Huryn, M.D. at National Eye Institute (NEI). The trial plans to enroll 1,500 participants.