Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies

NCT06412718 | Not Yet Recruiting

• 1 other identifier: RV-WP2
• Study Type: observational
• Target: 274
• Locations: 0 countries
• Sites: N/A

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.

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

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• 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.

  Day 0 (enrollment day).

Study Arms (2)

Patients

Control group

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.
• 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.

You may not qualify if:

• 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.
• 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.

Sponsors & Collaborators

• IRCCS Ospedale San Raffaele: lead

Related Links

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

MeSH Terms

Conditions

Rare Diseases; Aniridia; Limbal Stem Cell Deficiency; Pemphigoid, Benign Mucous Membrane; Ectrodactyly-cleft lip-palate syndrome; Corneal Neovascularization; Lacerations

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Eye Abnormalities; Eye Diseases; Eye Diseases, Hereditary; Iris Diseases; Uveal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Corneal Diseases; Conjunctival Diseases; Skin Diseases, Vesiculobullous; Skin Diseases; Skin and Connective Tissue Diseases; Neovascularization, Pathologic; Metaplasia; Wounds and Injuries

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Ophthalmology-San Raffaele Vita Salute University, Cornea and Ocular Surface Unit; Head-Eye Repair Lab San Raffaele Scientific Institute

Study Record Dates

• First Submitted: April 30, 2024
• First Posted: May 14, 2024
• Study Start: May 1, 2024
• Primary Completion: April 1, 2025
• Study Completion: April 1, 2026
• Last Updated: May 14, 2024

Record last verified: 2024-04