Rare DiseasesREVIBIONCT07063719
Identification of Cellular Biomarkers of Rare Eye Diseases in Adults
A study testing Ophthalmological visit, Questionnaires and Blood sample collection in people with Rare Diseases and Ophthalmology, run by Institut National de la Santé Et de la Recherche Médicale, France at 2 sites in France.
Trial summary
The cornea is the outermost transparent 'window' of the eye allowing light to enter and serving as the first-line immune and mechanical barrier. It is a complex avascular tissue composed of cells, stem cells, nerves, and collagen layers organized in an exquisite manner to maintain its transparency and self-healing… Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Rare Diseases, Ophthalmology
- What is being tested?
- Ophthalmological visit, Questionnaires and Blood sample collection
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 110 participants
- Where
- 2 sitesFrance
- Study dates
- 1 Jun 2026to 1 Jun 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Patient group:
- Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study)
- Willingness and ability to read and understand the informed consent.
- Diagnosis (including genotype, if needed) of REDs.
- Affiliation with a social security scheme or beneficiary of such a scheme.
- RED 1 - AAK Diagnosis criteria
Show all 36Show fewer
- Compatible slit lamp examination (iris/pupillary abnormalities, with or without corneal opacification, vascularization, cataract, glaucoma). with or without:
- Foveal hypoplasia and optic disc malformations as detected through fundus examination or OCT tomography
- Compatible anterior segment OCT or high-frequency ultrasound biomicroscopy (UBM)
- Positive genetic testing
- RED 2 - NK Diagnosis criteria
- Compatible history and slit lamp findings of one of the three stages of the Mackie classification (I - punctate keratopathy; II - persistent epithelial defect; III - stromal involvement)
- Reduced/absent corneal sensitivity
- Exclusion of infectious or toxic etiologies with or without:
- confocal microscopy findings
- RED 3 - LSCD Diagnosis criteria
- Compatible history and slit lamp examination (e.g. corneal conjunctivalization with persistent epithelial defects, loss of limbal anatomy or irregular staining with fluorescein) with or without:
- confocal microscopy findings
- RED 4 - OCP Diagnosis criteria
- Compatible slit lamp examination
- Exclusion of infectious or toxic etiologies with or without:
- conjunctival /oral biopsy with characteristic mucous pemphigoid findings
- RED 5 - OC GVHD Diagnosis criteria • Compatible history and slit lamp examination consistent with one of 4 grades of ocular GVHD (1 - conjunctival hyperemia, 2 - fibrovascular changes <25% of palpebral conjunctiva, 3 - fibrovascular changes >25%, 4 - >75% or cicatricial entropion)
- RED 6 - EEC Diagnosis criteria
- Compatible slit lamp examination
- Compatible systemic findings with or without:
- Positive genetic testing
- RED 7- CNV Diagnosis criteria
- Compatible slit lamp examination of corneal stromal neovascularization (1-4 quadrants)
- Exclusion of infectious or toxic etiologies with or without:
- confocal microscopy findings
- Control group:
- Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study).
- Willingness and ability to read and understand the informed consent.
- Non-diagnosis of REDs.
- Affiliation with a social security scheme of beneficiary of such a scheme.
Who cannot join
- Patient group:
- Pregnancy, breastfeeding (in case any stress was caused to the woman by the biological sampling).
- Descemetocele/impending corneal perforation.
- Recent (less than 3 months) ocular surgery.
- Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology.
- Persons subject to a legal protection measure (under guardianship, curatorship or safeguard of justice)
Show all 13Show fewer
- Control group:
- 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 of the ocular pathology.
- Persons subject to a legal protection measure. (under guardianship, curatorship or safeguard of justice)
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France2 sites, 2 recruiting
- Recruiting
Hôpital Universitaire Cochin, APHP
Paris
Francine Behar-Cohen, PU-PH, +33 01 44 27 81 64, Francine.behar@gmail.com
Jean-Louis Bourges, Pr, +33 01 58 41 22 51, jean-louis.bourges@aphp.fr
- Not yet recruiting
Hôpital Universitaire Necker Enfants malades, APHP
Paris
Dominique Bremond-Gignac, Pr, +33 01 44 49 41 11, dominique.bremond@aphp.fr
Dominique Bremond-Gignac, Pr
About this study
The cornea is the outermost transparent 'window' of the eye allowing light to enter and serving as the first-line immune and mechanical barrier. It is a complex avascular tissue composed of cells, stem cells, nerves, and collagen layers organized in an exquisite manner to maintain its transparency and self-healing capacity. This delicately balanced interplay of corneal elements is disrupted in rare diseases of the cornea, resulting in non-healing wounds, corneal ulceration, inflammation, new vessel ingrowth (neovascularization), defective innervation, scarring, oedema and loss of transparency. For many Rare Eye Diseases (REDs), drug development has been relatively unsuccessful, delivering few to no new therapies. Current management is often prohibitively expensive, has low efficacy and leads to debilitating side effects. The RESTORE VISION project (https://restorevision-project.eu/) aims to improve eye health by using cutting-edge models for each rare disease to test novel and repurposed compounds (9 in total) and determine drug mechanisms of action, formulating compounds as safe eye drop suspensions, and performing several first-in-human trials of novel therapies. Thes drugs have solid preliminary data showing beneficial effects in restoring the cell physiology, immune, avascular, neural and signaling environment in the cornea.
The current clinical study is part of Work package 2 within the RESTORE VISION EU grant agreement (''Validation of human drug targets of repurposed drugs and novel therapies'') and aims to ascertain the expression levels of genes and proteins and investigate pathways of interest in human tissue and fluid samples of REDs, that are targeted by the proposed experimental/repurposed substances. Therapeutic target gene and/or protein expression will be verified in human blood, tears and conjunctival cells collected from 7 RED patient groups. The RESTORE VISION Consortium know multiple putative genes and proteins involved in the REDs and/or affected by the drugs to be tested in RED models. These will be analyzed in patient samples from the 7 REDs to see if they are 1) expressed at all; 2) differ in expression between patient and control group and 3) are correlated with clinical endpoints and/or symptoms of REDs.
Read more
The 7 REDs under investigation are briefly explained as follows:
- AAK: genetic progressive limbal stem cell degeneration leading to corneal neovascularization, inflammation, recurrent erosions, chronic pain and vision loss.
- OCP: autoimmune scarring of the conjunctiva leads to deficient wound healing, inflammation, scarring, blindness and pain.
- EEC Syndrome: Ectodermal Dysplasia causes pathological corneal scarring and blindness.
- NK: involves a corneal nerve deficit leading to reduction or loss of corneal sensitivity, impaired wound healing, corneal ulceration and loss of vision.
- LSCD: acquired or hereditary stem cell deficiency inducing epithelial breakdown, neovascularization, scarring and inflammation leading to decreased vision, tearing and pain.
- oGvHD: a severe side-effect of successful bone-marrow transplantation leads to painful and blinding ocular surface inflammation, neovascularization and delayed wound healing.
- CN: in high-risk transplantation, pathologic inflammation, corneal blood and lymphatic vessels are key risk factors for high-risk corneal graft failure, leading to graft rejection and blindness.
Read the detailed description
The expression levels of the genes/proteins that are investigated in this study will be differentially expressed (up/down regulated) between patient and control groups and furthermore there will be associations between the expression levels of these genes/proteins* and clinical endpoints/symptoms in patients with the 7 REDs. The analysis that will be performed in this study will provide key insights into mechanisms of disease in the 7 REDs and the pathways targeted by the RESTORE VISION drugs.
*Restore Vision REDs and gene/protein targets :
Impression cytology :
- For AAK : PAX6, IRS-1, MR, GR, HSD1, HSD2
- For OCP : IRS-1,MR, GR
- For EEC : IRS-1, MR, GR, HSD1, HSD2
- For NK : IRS-1, MR, GR, HSD1, HSD2
- For LSCD : IRS-1, MR, GR, HSD1, HSD2, DCN/LRG-1
- For oGvHD : IRS-1, MR, GR, HSD1, HSD2
- For CN : IRS-1, MR, GR, HSD1, HSD2, DCN/LRG-1
Tear fluid :
- For AKK : PAX6
- For EEC : SPRR1A
- For LSCD :DCN/LRG
- Conditions
- Rare Diseases, Ophthalmology
- Being tested
- Ophthalmological visit, Questionnaires, Blood sample collection, Impression cytology, Tear fluid
- Keywords
- Rare occular disease
- Medical subject headings
- Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Ophthalmological visitOther
Uncorrected visual acuity (UCVA), best-corrected visual acuity (BSCVA), corneal topography, corneal pachymetry, ocular surface pictures (to evaluate disease status of the eye with and without fluorecein), Schirmer's test, Corneal esthesiometry, Tear film break-up time test, Intraocular pressure.
Below is a summary of steps to perform ocular surface pictures of the cornea.
- Ensure slit lamp cleaning and appropriate magnification and light settings.
- Ensure comfortable positioning of both the operator and the patient.
- Examine external orbital structures and adnexa for inflammation, irritation, or lesions.
- Examine lids and lashes for abnormalities.
- Examine both bulbar and palpebral conjunctiva for signs of irritation and injection.
- Examine the cornea for clarity and the presence of any defect.
- Examine the anterior chamber depth and evaluate abnormalities that might affect its transparency (blood, purulent material, cells and flare).
- Examine the surface of the iris an
QuestionnairesOther
Ocular Surface Disease Index (OSDI) questionnaire, Visual Analog Pain Scale (VAS) questionnaire
Blood sample collectionOther
Blood samples from RED patients or control group are collected in BD Vacutainer K2 EDTA.
Impression cytologyOther
Put one drop of oxybuprocaine hydrochloride 0.4% in patients' eyes and wait 10 seconds. Gently apply both side of one sterile nitrocellulose membrane onto the unexposed bulbar conjunctiva, superotemporally, inferotemporally, superonasally, and inferonasally, for approximately 20 seconds, please, keep the eyes separated.
Tear fluidOther
One sterile minisponge per eye will be placed over the lids margin at the junction of the lateral and middle thirds of the lower eyelids and kept in place for 2 minutes. During application of sponges the patient needs to look up to facilitate the procedure. To avoid excessive tear reflex, as well as a mild discomfort, it is recommended that patients close their eyes during the collection. Remove sponge using sterile tweezers and put it into empty 0.5mL tube (pierced at the bottom with a sterile needle) placed into another empty 1.5 mL tube and keep it on ice until processing.
| Study group | Role | What they receive |
|---|---|---|
| Control group | Other | In France, two groups of participants will be recruited (110 participants). 55 of subjects in a control group, will be selected to match the two groups with regard to possible confounding variables, such as gender and age (±5). Patients in the control group will be recruited from the ophthalmology clinics of the Cochin and Necker hospitals, as these patients are already being treated in these hospitals for other pathologies unrelated to rare diseases. Receives: Other: Ophthalmological visit; Other: Questionnaires; Other: Blood sample collection; Other: Impression cytology; Other: Tear fluid |
| Patient group | Other | In France, two groups of participants will be recruited (110 participants). 55 subjects with REDs in an experimental group. This group is divided into subgroups. Indeed, 15 patients will be affected by AAK, 5 by NK, 5 by LSCD, 10 by OCP, 5 by Oc GvHD, 10 by EEC and 5 by CNV (the 7 different rare eye diseases) Receives: Other: Ophthalmological visit; Other: Questionnaires; Other: Blood sample collection; Other: Impression cytology; Other: Tear fluid |
What is being measured
The primary outcome is the main question the study is designed to answer.
The expression levels of the genes and proteins
The primary endpoint will be the expression levels of the genes and proteins listed in the Study description. These genes and proteins are expected to be differentially expressed (upregulated or down regulated) compared to the control group. The investigators will arbitrarily set at 1 the target level in the control group and the RED group will be expressed in relation to the control group.
While sample collection occurs in 4 Clinical centers (2 in Inserm, France, 1 in Klinikum der Universitaet zu Koeln (UKK, Germany) and 1 in San Raffaele Hospital OSR, Italy), following any initial required processing all samples will be shipped to OSR in Italy who will perform the qPCR, Elisa and/or Mass Spectrometry analysis. Laboratory tests (qPCR, Elisa and/or Mass Spectrometry) will be performed at the Eye Repair lab of the Department of Neuroscience at IRCCS at OSR.
Measured: At the inclusion visit
Secondary outcomes (1)
The expression levels of the genes and proteins
The secondary endpoint will again be expression levels of the genes and proteins listed in the study description, however then these genes and protein expression levels will be analyzed statistically to see if there are correlations with the clinical measurements taken in this study (pictures, health questionnaires, uncorrected visual acuity, best spectacle corrected visual acuity, corneal topography, corneal pachymetry and the slit lamp pictures acquired during the ophthalmologic exam).
The measurement of the secondary endpoints will be performed using the same timepoint and techniques as are planned to be used for measurement of the primary endpoints which will be combined with statistical analysis to identify any correlations between gene/protein expression levels in RED patients and controls and the clinical measurements taken in this study.
Measured: At the inclusion visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jul 2025
- Study start1 Jun 2026
- Primary completion1 Jun 2027 (estimated)
- Study completion1 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Model description
- This is a cross-sectional interventional research with minimal risks and constraints, national and multi-center clinical study carried out as part of the overall EU project. This WP2 study will be performed in two other countries: Germany (UKK) and Italy (OSR). Each partner will have the responsibility for the clinical study carried out in its country.
- Masking
- None (open label)
- Enrolment
- 110 participants (estimated)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07063719
- Sponsor's protocol ID
- C24-15
- Acronym
- REVIBIO
- Status last verified
- Jul 2026
- First submitted
- 24 Jun 2025
- Last updated
- 7 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Stachon T, Fecher-Trost C, Latta L, Yapar D, Fries FN, Meyer MR, Kasmann-Kellner B, Seitz B, Szentmary N. Protein profiling of conjunctival impression cytology samples of aniridia subjects. Acta Ophthalmol. 2024 Jun;102(4):e635-e645. doi: 10.1111/aos.16614. Epub 2023 Dec 21.
PubMed 38130099Lasagni Vitar RM, Bonelli F, Atay A, Triani F, Fonteyne P, Di Simone E, Rama P, Mondino A, Ferrari G. Topical neurokinin-1 receptor antagonist Fosaprepitant ameliorates ocular graft-versus-host disease in a preclinical mouse model. Exp Eye Res. 2021 Nov;212:108825. doi: 10.1016/j.exer.2021.108825. Epub 2021 Nov 3.
PubMed 34740637
Study at a glance
From the registry record, last updated by the sponsor on 7 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Cellular Biomarkers of Rare Eye Diseases in Adults
- ClinicalTrials.gov ID
- NCT07063719
- Acronym / sponsor ID
- REVIBIO / C24-15
- Conditions
- Rare Diseases, Ophthalmology
- Keywords
- Rare occular disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 110 participants (estimated)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 1 Jun 2026 (actual)
- Primary completion
- 1 Jun 2027 (estimated)
- Study completion
- 1 Jun 2027 (estimated)
- First posted
- 14 Jul 2025 (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 cornea is the outermost transparent 'window' of the eye allowing light to enter and serving as the first-line immune and mechanical barrier. It is a complex avascular tissue composed of cells, stem cells, nerves, and collagen layers organized in an exquisite manner to maintain its transparency and self-healing capacity. This delicately balanced interplay of corneal elements is disrupted in rare diseases of the cornea, resulting in non-healing wounds, corneal ulceration, inflammation, new vessel ingrowth (neovascularization), defective innervation, scarring, oedema and loss of transparency. For many Rare Eye Diseases (REDs), drug development has been relatively unsuccessful, delivering few to no new therapies. Current management is often prohibitively expensive, has low efficacy and leads to debilitating side effects. The RESTORE VISION project (https://restorevision-project.eu/) aims to improve eye health by using cutting-edge models for each rare disease to test novel and repurposed compounds (9 in total) and determine drug mechanisms of action, formulating compounds as safe eye drop suspensions, and performing several first-in-human trials of novel therapies. Thes drugs have solid preliminary data showing beneficial effects in restoring the cell physiology, immune, avascular, neural and signaling environment in the cornea.
The current clinical study is part of Work package 2 within the RESTORE VISION EU grant agreement (''Validation of human drug targets of repurposed drugs and novel therapies'') and aims to ascertain the expression levels of genes and proteins and investigate pathways of interest in human tissue and fluid samples of REDs, that are targeted by the proposed experimental/repurposed substances. Therapeutic target gene and/or protein expression will be verified in human blood, tears and conjunctival cells collected from 7 RED patient groups. The RESTORE VISION Consortium know multiple putative genes and proteins involved in the REDs and/or affected by the drugs to be tested in RED models. These will be analyzed in patient samples from the 7 REDs to see if they are 1) expressed at all; 2) differ in expression between patient and control group and 3) are correlated with clinical endpoints and/or symptoms of REDs.
The 7 REDs under investigation are briefly explained as follows:
- AAK: genetic progressive limbal stem cell degeneration leading to corneal neovascularization, inflammation, recurrent erosions, chronic pain and vision loss.
- OCP: autoimmune scarring of the conjunctiva leads to deficient wound healing, inflammation, scarring, blindness and pain.
- EEC Syndrome: Ectodermal Dysplasia causes pathological corneal scarring and blindness.
- NK: involves a corneal nerve deficit leading to reduction or loss of corneal sensitivity, impaired wound healing, corneal ulceration and loss of vision.
- LSCD: acquired or hereditary stem cell deficiency inducing epithelial breakdown, neovascularization, scarring and inflammation leading to decreased vision, tearing and pain.
- oGvHD: a severe side-effect of successful bone-marrow transplantation leads to painful and blinding ocular surface inflammation, neovascularization and delayed wound healing.
- CN: in high-risk transplantation, pathologic inflammation, corneal blood and lymphatic vessels are key risk factors for high-risk corneal graft failure, leading to graft rejection and blindness.
Detailed description
The expression levels of the genes/proteins that are investigated in this study will be differentially expressed (up/down regulated) between patient and control groups and furthermore there will be associations between the expression levels of these genes/proteins* and clinical endpoints/symptoms in patients with the 7 REDs. The analysis that will be performed in this study will provide key insights into mechanisms of disease in the 7 REDs and the pathways targeted by the RESTORE VISION drugs.
*Restore Vision REDs and gene/protein targets :
Impression cytology :
- For AAK : PAX6, IRS-1, MR, GR, HSD1, HSD2
- For OCP : IRS-1,MR, GR
- For EEC : IRS-1, MR, GR, HSD1, HSD2
- For NK : IRS-1, MR, GR, HSD1, HSD2
- For LSCD : IRS-1, MR, GR, HSD1, HSD2, DCN/LRG-1
- For oGvHD : IRS-1, MR, GR, HSD1, HSD2
- For CN : IRS-1, MR, GR, HSD1, HSD2, DCN/LRG-1
Tear fluid :
- For AKK : PAX6
- For EEC : SPRR1A
- For LSCD :DCN/LRG
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- This is a cross-sectional interventional research with minimal risks and constraints, national and multi-center clinical study carried out as part of the overall EU project. This WP2 study will be performed in two other countries: Germany (UKK) and Italy (OSR). Each partner will have the responsibility for the clinical study carried out in its country.
| Arm | Type | Receives |
|---|---|---|
| Control group | Other | Other: Ophthalmological visit, Other: Questionnaires, Other: Blood sample collection, Other: Impression cytology, Other: Tear fluidIn France, two groups of participants will be recruited (110 participants). 55 of subjects in a control group, will be selected to match the two groups with regard to possible confounding variables, such as gender and age (±5). Patients in the control group will be recruited from the ophthalmology clinics of the Cochin and Necker hospitals, as these patients are already being treated in these hospitals for other pathologies unrelated to rare diseases. |
| Patient group | Other | Other: Ophthalmological visit, Other: Questionnaires, Other: Blood sample collection, Other: Impression cytology, Other: Tear fluidIn France, two groups of participants will be recruited (110 participants). 55 subjects with REDs in an experimental group. This group is divided into subgroups. Indeed, 15 patients will be affected by AAK, 5 by NK, 5 by LSCD, 10 by OCP, 5 by Oc GvHD, 10 by EEC and 5 by CNV (the 7 different rare eye diseases) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (36 listed)
- Women and men with age equal or higher than 18 years (patients planning to conceive may be included in the study)
- Willingness and ability to read and understand the informed consent.
- Diagnosis (including genotype, if needed) of REDs.
- Affiliation with a social security scheme or beneficiary of such a scheme.
- RED 1 - AAK Diagnosis criteria
Key exclusion criteria (13 listed)
- Pregnancy, breastfeeding (in case any stress was caused to the woman by the biological sampling).
- Descemetocele/impending corneal perforation.
- Recent (less than 3 months) ocular surgery.
- Recent (less than 1 month) change in topical medications type and frequency of the ocular pathology.
- Persons subject to a legal protection measure (under guardianship, curatorship or safeguard of justice)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Ophthalmological visitUncorrected visual acuity (UCVA), best-corrected visual acuity (BSCVA), corneal topography, corneal pachymetry, ocular surface pictures (to evaluate disease status of the eye with and without fluorecein), Schirmer's test, Corneal esthesiometry, Tear film break-up time test, Intraocular pressure. Below is a summary of steps to perform ocular surface pictures of the cornea. 1. Ensure slit lamp cleaning and appropriate magnification and light settings. 2. Ensure comfortable positioning of both the operator and the patient. 3. Examine external orbital structures and adnexa for inflammation, irritation, or lesions. 4. Examine lids and lashes for abnormalities. 5. Examine both bulbar and palpebral conjunctiva for signs of irritation and injection. 6. Examine the cornea for clarity and the presence of any defect. 7. Examine the anterior chamber depth and evaluate abnormalities that might affect its transparency (blood, purulent material, cells and flare). 8. Examine the surface of the iris an | Other | Control group, Patient group |
| QuestionnairesOcular Surface Disease Index (OSDI) questionnaire, Visual Analog Pain Scale (VAS) questionnaire | Other | Control group, Patient group |
| Blood sample collectionBlood samples from RED patients or control group are collected in BD Vacutainer K2 EDTA. | Other | Control group, Patient group |
| Impression cytologyPut one drop of oxybuprocaine hydrochloride 0.4% in patients' eyes and wait 10 seconds. Gently apply both side of one sterile nitrocellulose membrane onto the unexposed bulbar conjunctiva, superotemporally, inferotemporally, superonasally, and inferonasally, for approximately 20 seconds, please, keep the eyes separated. | Other | Control group, Patient group |
| Tear fluidOne sterile minisponge per eye will be placed over the lids margin at the junction of the lateral and middle thirds of the lower eyelids and kept in place for 2 minutes. During application of sponges the patient needs to look up to facilitate the procedure. To avoid excessive tear reflex, as well as a mild discomfort, it is recommended that patients close their eyes during the collection. Remove sponge using sterile tweezers and put it into empty 0.5mL tube (pierced at the bottom with a sterile needle) placed into another empty 1.5 mL tube and keep it on ice until processing. | Other | Control group, Patient group |
Primary outcome
The expression levels of the genes and proteins
Time frame: At the inclusion visit
The primary endpoint will be the expression levels of the genes and proteins listed in the Study description. These genes and proteins are expected to be differentially expressed (upregulated or down regulated) compared to the control group. The investigators will arbitrarily set at 1 the target level in the control group and the RED group will be expressed in relation to the control group. While sample collection occurs in 4 Clinical centers (2 in Inserm, France, 1 in Klinikum der Universitaet zu Koeln (UKK, Germany) and 1 in San Raffaele Hospital OSR, Italy), following any initial required processing all samples will be shipped to OSR in Italy who will perform the qPCR, Elisa and/or Mass Spectrometry analysis. Laboratory tests (qPCR, Elisa and/or Mass Spectrometry) will be performed at the Eye Repair lab of the Department of Neuroscience at IRCCS at OSR.
1 secondary outcome
The expression levels of the genes and proteins
Time frame: At the inclusion visit
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Jul 2026.
- Background: PubMed 38130099Stachon T, Fecher-Trost C, Latta L, Yapar D, Fries FN, Meyer MR, Kasmann-Kellner B, Seitz B, Szentmary N. Protein profiling of conjunctival impression cytology samples of aniridia subjects. Acta Ophthalmol. 2024 Jun;102(4):e635-e645. doi: 10.1111/aos.16614. Epub 2023 Dec 21.
- Background: PubMed 34740637Lasagni Vitar RM, Bonelli F, Atay A, Triani F, Fonteyne P, Di Simone E, Rama P, Mondino A, Ferrari G. Topical neurokinin-1 receptor antagonist Fosaprepitant ameliorates ocular graft-versus-host disease in a preclinical mouse model. Exp Eye Res. 2021 Nov;212:108825. doi: 10.1016/j.exer.2021.108825. Epub 2021 Nov 3.
- Individual participant dataSharing planned: Undecided
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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.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Ophthalmological visit, Questionnaires and Blood sample collection in people with Rare Diseases and Ophthalmology, run by Institut National de la Santé Et de la Recherche Médicale, France at 2 sites in France.
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 36 inclusion and 13 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: looking for participants now, as of the sponsor's last update on 7 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Francine Behar-Cohen, PU-PH (+33 01 44 27 81 64, Francine.behar@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The expression levels of the genes and proteins (time frame: At the inclusion visit). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07063719, which also lists 2 linked publications.
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 7 Jul 2026.