An observational study in Rare Diseases, Aniridia and Neurotrophic Keratopathy, sponsored by IRCCS Ospedale San Raffaele. Not yet recruiting. Open to participants aged 18 Years to 99 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-05-14.
Sponsored by IRCCS Ospedale San Raffaele · Observational
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.
592 studies on the registry are indexed under Rare Diseases; 125 are open to participants now.
This study's planned enrollment of 274 is above the median of 133 across 208 observational studies indexed under Rare Diseases.
Browse Rare Diseases studies →IRCCS Ospedale San Raffaele is the lead sponsor of 36 studies on the registry; 28 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Inclusion Criteria:
Inclusion Criteria for study group
Inclusion Criteria for control group
Exclusion Criteria:
Exclusion Criteria for study group
Patients who meet these criteria will be excluded from participation in the study:
Exclusion Criteria for control group
Patients who meet these criteria will be excluded from participation in the study:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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).
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).
No study locations are listed for this record.
This study is not yet recruiting, as verified in Apr 2024. You cannot join it, but the record below documents what was studied.
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IRCCS Ospedale San Raffaele