Study of Cellular Biomarkers in Adults With Rare Eye Diseases to Understand Disease Mechanisms and Drug Targets

What this Trial Is About

Rare Eye Diseases REDs affect the cornea, the transparent outer layer of the eye, disrupting its complex structure and leading to problems such as non-healing wounds, inflammation, scarring, and vision loss. This project aims to study seven different REDs, including genetic and autoimmune conditions, by analyzing gene and protein expression in patient tissues and fluids. It seeks to understand disease mechanisms and evaluate novel and repurposed drug targets to improve treatments for these rare conditions, which currently have limited effective options. The study involves recruiting adult participants with REDs and healthy controls. It collects blood, tear fluid, and conjunctival cell samples to analyze gene and protein levels linked to the diseases and the drugs being tested. Participants undergo ophthalmological exams, complete questionnaires about eye symptoms and pain, and provide biological samples through non-invasive procedures. The research compares expression patterns between patients and controls to identify biomarkers and correlations with clinical signs. Participants will attend an inclusion visit where clinical assessments, imaging, and sample collections occur. Researchers will monitor gene and protein expression levels to better understand REDs and the effects of potential treatments. The study involves no drug administration but focuses on validating targets for future therapies. Participation includes questionnaires, eye exams, and sample collection, with total involvement lasting the duration of study visits around the inclusion timepoint.

Identification of Cellular Biomarkers of Rare Eye Diseases in Adults