Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies

Rare Diseases Clinical Trial

Official title:

Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06412718
• Other study ID #: RV-WP2
• Status: Not yet recruiting
• Start date: May 2024
• Est. completion date: April 2026

Study information

• Verified date: April 2024
• Source: IRCCS Ospedale San Raffaele
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 274
• Est. completion date: April 2026
• Est. primary completion date: April 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 99 Years

Eligibility

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.

Related Conditions & MeSH terms

• Aniridia
• Corneal Neovascularization
• Graft vs Host Disease
• Limbal Stem Cell Deficiency
• Neovascularization, Pathologic
• Neurotrophic Keratopathy
• Ocular Cicatricial Pemphigoid
• Ocular Graft-versus-host Disease
• Pemphigoid, Bullous
• Rare Diseases

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
IRCCS Ospedale San Raffaele

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	Day 0 (enrollment day).
Secondary	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.	Day 0 (enrollment day).

External Links

•   European Blind Union, About Blindness and Partial Sight: Facts and Figures. Accessed 26 August 2022
•   European Commission, ERN-EYE: a European Reference Network dedicated to Rare Eye Diseases. Accessed 29 December 2021
•   Restore Vision site