EICHORCondition: Inherited Eye Disease · Sponsor: National Eye Institute (NEI)
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Background: Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases. Objective: To try to identify the genes linked to the development of inherited eye diseases. Eligibility: People ages 4 and older who have or have a family member with an inherited eye disease Design: Participants will be screened with medical history and medical records. Participants will have one visit that will take 3-4 hours. This will include: Medical and family history Eye exam: This includes the pupil being dilated. Electroretinography: A small electrode is taped to the forehead. Participants sit in the dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in the eyes. They will watch flashing lights. Blood tests Saliva sample: They will spit into a container or have the inside of their cheek swabbed. Genetic testing will be done on participants blood or saliva. Participants may meet with the researchers to discuss their genetic tests.
This description comes directly from the study's public registry record.
James F Hejtmancik, M.D. · (301) 435-1598 · f3h@helix.nih.gov
There is no obligation to join — the study team can answer your questions about taking part.
Always discuss trial participation with your own doctor first.
* INCLUSION CRITERIA: To be eligible, the following inclusion criteria must be met, where applicable; 1. Participant must be four years of age or older. 2. Participant must understand and sign the protocol s informed consent document. 3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related. 4. All participants must be able to cooperate with study examination and phlebotomy. EXCLUSION CRITERIA: A participant is not eligible if any of the following exclusion criteria are present: 1. Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc. 2. Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections. 3. Participant requires sedation for study purposes.
Reproduced word-for-word from the public registry record — the study team can answer questions about it.
| University of California, San Diego | La Jolla, California, United States | Recruiting |
| National Institutes of Health Clinical Center | Bethesda, Maryland, United States | Recruiting |
| Duke University Eye Center | Durham, North Carolina, United States | Withdrawn |
| Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University | Guangzhou, China | Recruiting |
| Aravind Medical Research Foundation | Madurai, India | Withdrawn |
| Seconda Universita di Napoli | Naples, Italy | Withdrawn |
| National Centre of Excellence in Molecular Biology, University of the Punjab | Lahore, Pakistan | Suspended |
| University of the Philippines | Manila, Philippines | Recruiting |
| The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy | Odesa, Ukraine | Recruiting |
| University of Exeter | Exeter, United Kingdom | Suspended |
This study lists sites in the areas below. Each link shows other recruiting studies near that city, from the public registry record.
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Source record: clinicaltrials.gov/study/NCT02771236