Aniridia, Corneal Neovascularization, EEC Syndrome, Limbal Stem Cell Deficiency, Neurotrophic Keratopathy, Ocular Cicatricial Pemphigoid, Ocular Graft-versus-host Disease, Rare Diseases
Conditions
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
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.
Interventions
None listed
Sponsors
IRCCS Ospedale San Raffaele
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 99 Years
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To quantify the expression of molecular/cellular/genomic targets in the REDs and control group to detect statistically significant and clinically relevant differences. | Day 0 (enrollment day). | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| 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). | 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. |
Outcome results
None listed