Proteomic Study of Tears From Patients With a PAX6 Mutation

NCT05562115 | Completed

• 1 other identifier: RECHMPL22_0050
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Aniridia

Keywords

PAX6; tear proteomics; aniridia

Outcome Measures

Primary Outcomes (1)

• 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.

  Through study completion, an average of 18 months

Secondary Outcomes (1)

• Types of changes relative to the previously established reference tear profile range.

  Through study completion, an average of 18 months

Study Arms (1)

Patients treated for an ocular malformation linked to a PAX6 mutation.

EXPERIMENTAL

Other: Tear collection

Interventions

Tear collection OTHER

Collection of tears by Schirmer strip (2 to 4 mm).

Patients treated for an ocular malformation linked to a PAX6 mutation.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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
• Pregnant or breastfeeding woman

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

University Hospital

Montpellier, France

Location

MeSH Terms

Conditions

Aniridia

Condition Hierarchy (Ancestors)

Eye Abnormalities; Eye Diseases; Eye Diseases, Hereditary; Iris Diseases; Uveal Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Marjolaine WILLEMS, PH

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 21, 2022
• First Posted: September 30, 2022
• Study Start: February 9, 2023
• Primary Completion: November 22, 2023
• Study Completion: November 22, 2023
• Last Updated: August 9, 2024

Record last verified: 2024-08

Locations

FR (1)