Condition: Inherited Ophthalmic Diseases · Hypopigmentation Disorder · Corneal Dystrophy · Sponsor: National Eye Institute (NEI)
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE (Registered Trademark) to include more people for certain eye diseases. Objective: To collect information and DNA samples for the study of eye diseases. * Primary objective --To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual * Secondary objectives * To enhance recruitment for clinical trials and investigations in inherited eye diseases * To establish genotype-phenotype correlations for rare eye diseases Eligibility: People of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed. Design: Researchers will select participants based on their diagnosis. The data may include images and test results from eye exams. Participants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH. Participants …
This description comes directly from the study's public registry record.
eyeGene Coordinating Center · (301) 435-3032 · neieyegeneinfo@nih.gov
Brian P Brooks, M.D. · (301) 451-2238 · brooksb@mail.nih.gov
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| National Eye Institute (NEI) | Bethesda, Maryland, United States | Recruiting |
| National Institutes of Health Clinical Center | Bethesda, Maryland, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06491615