Identification of Cellular Biomarkers in Rare Eye Diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study analyzes gene and protein expression in patient corneal cells and tear fluid to identify biomarkers that differ from controls across seven rare eye diseases. It uses impression cytology and tear fluid samples collected during ophthalmology visits, along with questionnaires and blood draws, to explore associations between biomarkers and clinical features. The goal is to understand disease mechanisms and identify targets for future therapies in REDs, with results informing drug development efforts. No traditional pharmacologic intervention is described; the focus is on biomarker discovery and characterization. Participants meet age, diagnostic, and consent criteria and are recruited from two Parisian centers.

Why it matters

Who can join: the full rules

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)

Where it's running

• Hôpital Universitaire Cochin, APHP
  Paris, France Recruiting
• Hôpital Universitaire Necker Enfants malades, APHP
  Paris, France Not yet recruiting

Study contacts

• Study coordinator: Francine Behar-Cohen, PU-PH
• Email: Francine.behar@gmail.com
• Phone: +33 01 44 27 81 64

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.