Clinical trial NCT06412718: Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
Official title: Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Rare Diseases
Aniridia
Neurotrophic Keratopathy
Limbal Stem Cell Deficiency
Ocular Graft-versus-host Disease
Ocular Cicatricial Pemphigoid
EEC Syndrome
Corneal Neovascularization
Keywords: Rare Eye Diseases
Aniridia
Neurotrophic Keratopathy
Limbal Stem Cell Deficiency
Ocular Graft-versus-host Disease
Ocular Cicatricial Pemphigoid
Corneal Neovascularization
Molecular targets
Cellular targets
Genomic targets
NK1R
PBMC
Substance P
VEGF
Blood
Tear
Impression cytology
Cytokine
Lead sponsor: IRCCS Ospedale San Raffaele
Sponsor class: OTHER
First posted: 2024-05-14
Enrollment: 274
Sex: ALL
Minimum age (years): 18
Maximum age (years): 99
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study population consists of 137 patients, each of them will present with one of the 7 diseases under study (REDs).

The control group will consist of 137 patients not presenting the previous reported REDs.

Brief summary: 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.


Eligibility criteria: 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.

Primary outcomes:
measure: To quantify the expression of molecular/cellular/genomic targets in the REDs and control group to detect statistically significant and clinically relevant differences.
timeFrame: Day 0 (enrollment day).
Secondary outcomes:
measure: 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.
timeFrame: Day 0 (enrollment day).
Other outcomes:
Locations:
Study officials:
References: