CompletedNot Applicable

Proteomic Study of Tears From Patients With a PAX6 Mutation

France5 participantsStarted 2023-02-09

Plain-language 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. 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.

Who can participate

Age range

18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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

Exclusion criteria

. Ophthalmologic procedure less than 3 months old
. Chromosomal abnormality not limited to the PAX6 gene
. Being under court protection, guardianship or curatorship

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Proteomic profile of tears associated with different pathogenic variations of the PAX6 gene.

Timeframe: Through study completion, an average of 18 months

Trial details

NCT IDNCT05562115

SponsorUniversity Hospital, Montpellier

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2023-11-22

View on ClinicalTrials.gov More Aniridia trials