Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 274
- 主要终点
- To quantify the expression of molecular/cellular/genomic targets in the REDs and control group to detect statistically significant and clinically relevant differences.
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 99 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
To quantify the expression of molecular/cellular/genomic targets in the REDs and control group to detect statistically significant and clinically relevant differences.
时间窗: 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.
次要结局
- 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).)
研究者
Giulio Ferrari
Professor of Ophthalmology-San Raffaele Vita Salute University, Cornea and Ocular Surface Unit; Head-Eye Repair Lab San Raffaele Scientific Institute
IRCCS Ospedale San Raffaele