Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies

N/ANot Yet RecruitingNCT06412718

IRCCS Ospedale San Raffaele274 enrolled

Overview

The cross-sectional observational clinical study related to rare eye diseases is a multi-center study in which the hypothesis is that neurokinin 1 receptor and/or substance P expression is increased in REDs associated with inflammation/pain. Moreover, the following alternative targets are: VEGF, PAX6 and pro-inflammatory cytokine. The following procedures are performed specifically for the study: samples of blood, tear fluid and impression cytology. Precisely during the ophthalmological exam performed according to normal clinical practice (uncorrected visual acuity, best spectacle corrected visual acuity, corneal topography, corneal pachymetry and the slit lamp pictures) investigator's team collect the samples of blood, tear fluid and impression cytology to evaluate the goal of the study.

Study Type

OBSERVATIONAL

Enrollment

274

Conditions

Rare Diseases Aniridia Neurotrophic Keratopathy Limbal Stem Cell Deficiency Ocular Graft-versus-host Disease Ocular Cicatricial Pemphigoid

Eligibility

Sex: ALLMin age: 18 YearsMax age: 99 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: Inclusion Criteria for study group * Women and men with age equal or higher than 18 years (patients in reproductive age may be included in the study). * Willingness and ability to read and understand the informed consent. * Diagnosis (including genotype, if needed) of REDs. Inclusion Criteria for control group * Women and men with age equal or higher than 18 years (patients in reproductive age may be included in the study). * Willingness and ability to read and understand the informed consent. * Non - diagnosis of REDs. Exclusion Criteria: Exclusion Criteria for study group Patients who meet these criteria will be excluded from participation in the study: * 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. Exclusion Criteria for control group Patients who meet these criteria will be excluded from participation in the study: * 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.

Outcomes

Primary Outcomes

To quantify the expression of molecular/cellular/genomic targets in the REDs and control group to detect statistically significant and clinically relevant differences.

Evaluation of NK1R transcription levels in PBMC, substance P and VEGF protein levels in the tear fluid, pro-inflammatory cytokines transcription levels in conjunctival tissue. NK1R and pro-inflammatory cytokines are expressed as fold change compared to control group. Substance P and VEGF are expressed as ng/ml.

Time frame: Day 0 (enrollment day).

Secondary Outcomes

To correlate the expression of molecular/cellular genomic targets with the clinical phenotype/quality of life/pain symptoms in patients with the 7 rare diseases and in the control group so as to detect possible risk factors.

Levels of NK1R, substance P, VEGF, and pro-inflammatory cytokines correlated with pictures, questionnaires, uncorrected visual acuity, best spectacle corrected visual acuity, corneal topography, corneal pachymetry and the slit lamp pictures acquired during the ophthalmologic exam.

Time frame: Day 0 (enrollment day).