Rare DiseasesNCT06412718
Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
An observational study of Rare Diseases and Aniridia, run by IRCCS Ospedale San Raffaele.
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. Read more about this study
- Who is it for?
- Ages 18 to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Rare Diseases, Aniridia, Neurotrophic Keratopathy
- How many people
- 274 participants
- Where
- No sites listed yet
- Study dates
- May 2024to Apr 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 99 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Show all 12Show fewer
- 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.
About this study
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
- 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
- Medical subject headings
- Rare Diseases, Aniridia, Limbal Stem Cell Deficiency, Pemphigoid, Benign Mucous Membrane, Ectrodactyly-cleft lip-palate syndrome, Corneal Neovascularization, Lacerations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Not described | |
| Control group | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
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.
Measured: Day 0 (enrollment day).
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 May 2024
- Study startMay 2024 (estimated)
- Primary completionApr 2025 (estimated)
- Study completionApr 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 274 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Ospedale San Raffaele
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Giulio Ferrari, IRCCS Ospedale San Raffaele
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06412718
- Sponsor's protocol ID
- RV-WP2
- Status last verified
- Apr 2024
- First submitted
- 30 Apr 2024
- Last updated
- 14 May 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies
- ClinicalTrials.gov ID
- NCT06412718
- Acronym / sponsor ID
- RV-WP2
- Conditions
- Rare Diseases, Aniridia, Neurotrophic Keratopathy, Limbal Stem Cell Deficiency, Ocular Graft-versus-host Disease, Ocular Cicatricial Pemphigoid
- Keywords
- Rare Eye Diseases, Aniridia, Neurotrophic Keratopathy, Limbal Stem Cell Deficiency, Ocular Graft-versus-host Disease, Ocular Cicatricial Pemphigoid, Corneal Neovascularization, Molecular targets
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 274 participants (estimated)
- Lead sponsor
- IRCCS Ospedale San RaffaeleUniversity, hospital or other
- Study start
- May 2024 (estimated)
- Primary completion
- Apr 2025 (estimated)
- Study completion
- Apr 2026 (estimated)
- First posted
- 14 May 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | – | – |
| Control group | – | – |
Who may qualify
- Ages
- 18 to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (6 listed)
- 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.
Key exclusion criteria (12 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To quantify the expression of molecular/cellular/genomic targets in the REDs and control group to detect statistically significant and clinically relevant differences.
Time frame: 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.
1 secondary outcome
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.
Time frame: Day 0 (enrollment day).
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 May 2024.
- European Commission, ERN-EYE: a European Reference Network dedicated to Rare Eye Diseases. Accessed 29 December 2021Link provided by the sponsor.
- European Blind Union, About Blindness and Partial Sight: Facts and Figures. Accessed 26 August 2022Link provided by the sponsor.
- Restore Vision siteLink provided by the sponsor.
Related trials for Rare Diseases
RecruitingPhase 1/2
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
X-linked Hypophosphatemia
Not yet recruitingObservational study
Functional Impact of Psychological Symptoms in Patients With Superior Semicircular Canal Dehiscence Syndrome (SSCD): a National Cross-sectional Study
Superior Semicircular Canal Dehiscence
RecruitingObservational study
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Undiagnosed Diseases, Rare Diseases
RecruitingPhase 1
A Study of SGT-212 Gene Therapy in Friedreich's Ataxia
Friedreich's Ataxia (FA)
RecruitingObservational study
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Inherited Ophthalmic Diseases, Hypopigmentation Disorder
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases and Aniridia, run by IRCCS Ospedale San Raffaele.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 12 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 14 May 2024. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To quantify the expression of molecular/cellular/genomic targets in the REDs and control group to detect statistically significant and clinically relevant differences. (time frame: Day 0 (enrollment day).). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 May 2024.