AniridiaPLAPAX6NCT05562115
Proteomic Study of Tears From Patients With a PAX6 Mutation
A study testing Tear collection in people with Aniridia, run by University Hospital, Montpellier at 1 site in France.
Trial summary
This is a single-center prospective pilot study involving the ophthalmology and medical genetics departments of the Montpellier University Hospital, and the proteomics platform of the Montpellier University Hospital. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Aniridia
- What is being tested?
- Tear collection
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 1 siteFrance
- Study dates
- 9 Feb 2023to 22 Nov 2023
- Phase
- Interventional
- 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 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Patients with an isolated pathogenic variation of PAX6
- Age: 18-60 years
- Subject affiliated to a French social security system or beneficiary of such a system
- Written consent given by the subject
Who cannot join
- Ophthalmologic procedure less than 3 months old
- Chromosomal abnormality not limited to the PAX6 gene
- Being under court protection, guardianship or curatorship
- To be deprived of liberty by administrative decision
- Be in a period of exclusion in relation to another protocol
- Pregnant or breastfeeding woman
Trial locations and contacts
1 site in 1 country.
About this study
This is a single-center prospective pilot study involving the ophthalmology and medical genetics departments of the Montpellier University Hospital, and the proteomics platform of the Montpellier University Hospital.
5 patients with PAX6 pathogenic variation will be included in order to determine the proteomic profile in a tear sample associated with different pathogenic variations of the PAX6 gene.
Participation in the study for the patients consists of a single visit with an ophthalmological examination and a tear collection.
Read the detailed description
The transcription factor PAX6 is required for the normal development of all elements constituting the eyeball, including the lacrimal gland.
In patients with PAX6 gene mutations, the cornea presents a limbal anomaly that has been evolving since childhood and is responsible for variable damage. It evolves from a simple peripheral keratopathy to an advanced stage with complete corneal opacification and fibrosis. Chronic inflammation, associated with tear film damage is very common and promotes keratopathy. The current treatment of dry eye in patients with ocular malformation related to a PAX6 mutation is non specific: it aims to palliate the quantitative tear defect and uses tear substitutes, cyclosporine eye drops, meatus plugs, scleral lenses.
The identification of specific qualitative abnormalities constitutes the indispensable preliminary step necessary in order to be able to consider in the long term an adapted treatment, of tear protein supplementation, aiming at preserving the cornea of patients with an ocular malformation related to a PAX6 gene mutation.
In this study, patients will be recruited from the active file of patients and patients previously treated in the ophthalmology or medical genetics departments of Montpellier University Hospital for an ocular malformation related to a PAX6 mutation.
Participation in the study will consist of a single visit of up to 3 hours.
During the pre-inclusion visit, the existence of a pathogenic variation of the PAX6 gene identified in each patient will be verified.
Once the inclusion is achieved, the same day, it is planned to:
- data collection: demographic (age, sex), clinical (weight, height, head circumference, blood pressure, associated neurodevelopmental disorder, neurological examination, extraocular damage, description of the ocular malformation, previous surgical interventions) and genetic (description of the pathogenic variation of the PAX6 gene),
- an ophthalmological examination,
- the collection of tears by Schirmer strip (2 to 4 mm) will be performed by the ophthalmologist.
The data for each protein in the spectrum will be compared with the previously established reference proteomic profile range. Significant variations (50% change) will be retained.
The discovery of tear film abnormalities in the pathophysiological context of a PAX6 gene alteration will allow a better understanding of the progressive tear and corneal damage in these complex ocular malformations. This is an essential preliminary step in the perspective of a better management of the patients, by the creation of specific adapted eye drops allowing to palliate more specifically the identified anomalies, following the example of the treatment by eye drops containing NGF developed in the United States in order to treat the attacks of the corneal innervation.
- Conditions
- Aniridia
- Being tested
- Tear collection
- Keywords
- PAX6, tear proteomics, aniridia
- Medical subject headings
- Aniridia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Tear collectionOther
Collection of tears by Schirmer strip (2 to 4 mm).
| Study group | Role | What they receive |
|---|---|---|
| Patients treated for an ocular malformation linked to a PAX6 mutation. | Experimental | Not described Receives: Other: Tear collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proteomic profile of tears associated with different pathogenic variations of the PAX6 gene.
Proteomic profile (quantitative and qualitative analysis of global protein expression after gel prefractionation) of tears associated with different pathogenic variations of the PAX6 gene.
Measured: Through study completion, an average of 18 months
Secondary outcomes (1)
Types of changes relative to the previously established reference tear profile range.
Types of changes (protein expression deficiency or excess, defined as greater than 50% change) relative to the previously established reference tear profile range.
Measured: Through study completion, an average of 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Sep 2022
- Study start9 Feb 2023
- Primary completion22 Nov 2023
- Study completion22 Nov 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for AniridiaStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe 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
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marjolaine WILLEMS, PH, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05562115
- Sponsor's protocol ID
- RECHMPL22_0050
- Acronym
- PLAPAX6
- Status last verified
- Aug 2024
- First submitted
- 21 Sep 2022
- Last updated
- 9 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Willems M, Vialaret J, Girard M, Feret N, Bremond-Gignac D, Chassaing N, Kindermans J, Fichter L, Hirtz C, Mollevi C, Crowdy H, Pequignot M, Delettre C, Daien V, Michon F. High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridia. BMC Ophthalmol. 2026 May 27;26(1):436. doi: 10.1186/s12886-026-04958-8.
PubMed 42204496
Study at a glance
From the registry record, last updated by the sponsor on 9 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Proteomic Study of Tears From Patients With a PAX6 Mutation
- ClinicalTrials.gov ID
- NCT05562115
- Acronym / sponsor ID
- PLAPAX6 / RECHMPL22_0050
- Conditions
- Aniridia
- Keywords
- PAX6, tear proteomics, aniridia
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 9 Feb 2023 (actual)
- Primary completion
- 22 Nov 2023 (actual)
- Study completion
- 22 Nov 2023 (actual)
- First posted
- 30 Sep 2022 (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.
This is a single-center prospective pilot study involving the ophthalmology and medical genetics departments of the Montpellier University Hospital, and the proteomics platform of the Montpellier University Hospital.
5 patients with PAX6 pathogenic variation will be included in order to determine the proteomic profile in a tear sample associated with different pathogenic variations of the PAX6 gene.
Participation in the study for the patients consists of a single visit with an ophthalmological examination and a tear collection.
Detailed description
The transcription factor PAX6 is required for the normal development of all elements constituting the eyeball, including the lacrimal gland.
In patients with PAX6 gene mutations, the cornea presents a limbal anomaly that has been evolving since childhood and is responsible for variable damage. It evolves from a simple peripheral keratopathy to an advanced stage with complete corneal opacification and fibrosis. Chronic inflammation, associated with tear film damage is very common and promotes keratopathy. The current treatment of dry eye in patients with ocular malformation related to a PAX6 mutation is non specific: it aims to palliate the quantitative tear defect and uses tear substitutes, cyclosporine eye drops, meatus plugs, scleral lenses.
The identification of specific qualitative abnormalities constitutes the indispensable preliminary step necessary in order to be able to consider in the long term an adapted treatment, of tear protein supplementation, aiming at preserving the cornea of patients with an ocular malformation related to a PAX6 gene mutation.
In this study, patients will be recruited from the active file of patients and patients previously treated in the ophthalmology or medical genetics departments of Montpellier University Hospital for an ocular malformation related to a PAX6 mutation.
Participation in the study will consist of a single visit of up to 3 hours.
During the pre-inclusion visit, the existence of a pathogenic variation of the PAX6 gene identified in each patient will be verified.
Once the inclusion is achieved, the same day, it is planned to:
- data collection: demographic (age, sex), clinical (weight, height, head circumference, blood pressure, associated neurodevelopmental disorder, neurological examination, extraocular damage, description of the ocular malformation, previous surgical interventions) and genetic (description of the pathogenic variation of the PAX6 gene),
- an ophthalmological examination,
- the collection of tears by Schirmer strip (2 to 4 mm) will be performed by the ophthalmologist.
The data for each protein in the spectrum will be compared with the previously established reference proteomic profile range. Significant variations (50% change) will be retained.
The discovery of tear film abnormalities in the pathophysiological context of a PAX6 gene alteration will allow a better understanding of the progressive tear and corneal damage in these complex ocular malformations. This is an essential preliminary step in the perspective of a better management of the patients, by the creation of specific adapted eye drops allowing to palliate more specifically the identified anomalies, following the example of the treatment by eye drops containing NGF developed in the United States in order to treat the attacks of the corneal innervation.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients treated for an ocular malformation linked to a PAX6 mutation. | Experimental | Other: Tear collection |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (4 listed)
- Patients with an isolated pathogenic variation of PAX6
- Age: 18-60 years
- Subject affiliated to a French social security system or beneficiary of such a system
- Written consent given by the subject
Key exclusion criteria (6 listed)
- Ophthalmologic procedure less than 3 months old
- Chromosomal abnormality not limited to the PAX6 gene
- Being under court protection, guardianship or curatorship
- To be deprived of liberty by administrative decision
- Be in a period of exclusion in relation to another protocol
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 |
|---|---|---|
| Tear collectionCollection of tears by Schirmer strip (2 to 4 mm). | Other | Patients treated for an ocular malformation linked to a PAX6 mutation. |
Primary outcome
Proteomic profile of tears associated with different pathogenic variations of the PAX6 gene.
Time frame: Through study completion, an average of 18 months
Proteomic profile (quantitative and qualitative analysis of global protein expression after gel prefractionation) of tears associated with different pathogenic variations of the PAX6 gene.
1 secondary outcome
Types of changes relative to the previously established reference tear profile range.
Time frame: Through study completion, an average of 18 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Aug 2024.
- Derived from this study: PubMed 42204496Willems M, Vialaret J, Girard M, Feret N, Bremond-Gignac D, Chassaing N, Kindermans J, Fichter L, Hirtz C, Mollevi C, Crowdy H, Pequignot M, Delettre C, Daien V, Michon F. High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridia. BMC Ophthalmol. 2026 May 27;26(1):436. doi: 10.1186/s12886-026-04958-8.
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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. This study is not recruiting at the moment.
Marjolaine WILLEMS, PH principal investigator
University Hospital, Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Tear collection in people with Aniridia, run by University Hospital, Montpellier at 1 site 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 4 inclusion and 6 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: finished, as of the sponsor's last update on 9 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Proteomic profile of tears associated with different pathogenic variations of the PAX6 gene. (time frame: Through study completion, an average of 18 months). 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 NCT05562115, which also lists 1 linked publication.
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 9 Aug 2024.