Identification of Cellular Biomarkers of Rare Eye Diseases in Adults

Launched by INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE MÉDICALE, FRANCE · Jul 2, 2025

Keywords

ClinConnect Summary

This clinical trial is studying rare diseases that affect the cornea, which is the clear, front part of the eye. These diseases can cause problems like poor healing, inflammation, scarring, pain, and vision loss. The study aims to better understand how certain genes and proteins behave in people with these rare eye conditions. By looking at samples of blood, tears, and eye cells from patients, researchers hope to identify biological markers that can help develop new and improved treatments. This work is part of a larger project focused on testing new and existing drugs to find better ways to protect and heal the cornea.

Adults aged 18 and older who have been diagnosed with one of seven specific rare corneal diseases may be eligible to join. Participants will be asked to provide small samples of blood, tears, and cells from the surface of the eye. The study will compare these samples to those from people without these eye conditions to learn more about the diseases. The trial is not yet recruiting, and people who are pregnant, breastfeeding, or have had recent eye surgery may not be able to join. Overall, this study is an important step toward finding safer, more effective treatments for rare corneal diseases that currently have limited options.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• Patient group:
• • Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study)
• • Willingness and ability to read and understand the informed consent.
• • Diagnosis (including genotype, if needed) of REDs.
• • Affiliation with a social security scheme or beneficiary of such a scheme.
• • RED 1 - AAK Diagnosis criteria
• * Compatible slit lamp examination (iris/pupillary abnormalities, with or without corneal opacification, vascularization, cataract, glaucoma). with or without:
• • Foveal hypoplasia and optic disc malformations as detected through fundus examination or OCT tomography
• • Compatible anterior segment OCT or high-frequency ultrasound biomicroscopy (UBM)
• • Positive genetic testing
• • RED 2 - NK Diagnosis criteria
• • Compatible history and slit lamp findings of one of the three stages of the Mackie classification (I - punctate keratopathy; II - persistent epithelial defect; III - stromal involvement)
• • Reduced/absent corneal sensitivity
• * Exclusion of infectious or toxic etiologies with or without:
• • confocal microscopy findings
• • RED 3 - LSCD Diagnosis criteria
• * Compatible history and slit lamp examination (e.g. corneal conjunctivalization with persistent epithelial defects, loss of limbal anatomy or irregular staining with fluorescein) with or without:
• • confocal microscopy findings
• • RED 4 - OCP Diagnosis criteria
• • Compatible slit lamp examination
• * Exclusion of infectious or toxic etiologies with or without:
• • conjunctival /oral biopsy with characteristic mucous pemphigoid findings
• • RED 5 - OC GVHD Diagnosis criteria • Compatible history and slit lamp examination consistent with one of 4 grades of ocular GVHD (1 - conjunctival hyperemia, 2 - fibrovascular changes \<25% of palpebral conjunctiva, 3 - fibrovascular changes \>25%, 4 - \>75% or cicatricial entropion)
• • RED 6 - EEC Diagnosis criteria
• • Compatible slit lamp examination
• * Compatible systemic findings with or without:
• • Positive genetic testing
• • RED 7- CNV Diagnosis criteria
• • Compatible slit lamp examination of corneal stromal neovascularization (1-4 quadrants)
• * Exclusion of infectious or toxic etiologies with or without:
• • confocal microscopy findings
• Control group:
• • Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study).
• • Willingness and ability to read and understand the informed consent.
• • Non-diagnosis of REDs.
• • Affiliation with a social security scheme of beneficiary of such a scheme.
• Exclusion Criteria:
• Patient group:
• • Pregnancy, breastfeeding (in case any stress was caused to the woman by the biological sampling).
• • Descemetocele/impending corneal perforation.
• • Recent (less than 3 months) ocular surgery.
• • Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology.
• • Persons subject to a legal protection measure (under guardianship, curatorship or safeguard of justice)
• Control group:
• • Pregnancy, breastfeeding.
• • Active ocular infection.
• • Descemetocele/impending corneal perforation.
• • Recent (less than 3 months) ocular surgery.
• • Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology.
• • Persons subject to a legal protection measure. (under guardianship, curatorship or safeguard of justice)