Proteomic Study of Tears From Patients With a PAX6 Mutation
NCT05562115 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 5
Last updated 2024-08-09
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
Interventions
- OTHER
-
Tear collection
Collection of tears by Schirmer strip (2 to 4 mm).
Sponsors & Collaborators
-
University Hospital, Montpellier
lead OTHER
Principal Investigators
-
Marjolaine WILLEMS, PH · University Hospital, Montpellier
Study Design
- Allocation
- NA
- Purpose
- OTHER
- Masking
- NONE
- Model
- SINGLE_GROUP
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2023-02-09
- Primary Completion
- 2023-11-22
- Completion
- 2023-11-22
Countries
- France
Study Locations
More Related Trials
-
Anti-IL5 and Other Biotherapies in Cystic Fibrosis
NCT04256772 ·Status: UNKNOWN
-
Combating Diagnostic Wandering and Impasse for Cystic Fibrosis
NCT05654480 ·Status: UNKNOWN
-
Small Circulating RNA as Molecular Markers of Lung Disease in Cystic Fibrosis
NCT02992080 ·Status: COMPLETED ·Phase: NA
-
Validation of Therapeutic Efficacy Targeting the Splicing Variants in Cystic Fibrosis and CFTR Pathologies
NCT05100823 ·Status: TERMINATED ·Phase: NA
-
Urinary and Anorectal Functional Disorders and Their Impact on CF Adults (PerineoMucoRMO)
NCT02894619 ·Status: COMPLETED
-
Molecular Diagnosis of Respiratory Viral Infections on Sputum From Cystic Fibrosis Patients
NCT03736096 ·Status: COMPLETED
-
Multicenter International Cross-Sectional Evaluation of Pulmonary Alveolar Proteinosis Trial
NCT03007134 ·Status: COMPLETED
-
A Two-Part Multicenter Prospective Longitudinal Study of CFTR-dependent Disease Profiling in Cystic Fibrosis (PROSPECT)
NCT02477319 ·Status: COMPLETED
-
Muco Smartphone Exacerbation
NCT02122289 ·Status: COMPLETED ·Phase: EARLY_PHASE1
-
In Vitro Model of the Cystic Fibrosis Bronchial Epithelium Via iPS Technology
NCT03754088 ·Status: COMPLETED
-
Prospective Study of the Phenotypic Expression of Cystic Fibrosis (CF) Screened Positive Newborns With an Atypical Form of CF (DPAM)
NCT02869932 ·Status: COMPLETED ·Phase: NA
-
Analysis T Cells Response for Identification of Aspergillus Bronchitis With Cystic Fibrosis Patients
NCT02550041 ·Status: TERMINATED ·Phase: NA
-
Correction of Nonsense Mutations in Cystic Fibrosis
NCT03670472 ·Status: RECRUITING
-
Lung MRI and Allergic Broncho-pulmonary Aspergillosis in Cystic Fibrosis
NCT02853175 ·Status: COMPLETED
-
Ocular Surface Changes in Patients With Cystic Fibrosis
NCT00345280 ·Status: UNKNOWN
-
Mechanisms of Immune Tolerance and Inflammation in Patients With Cystic Fibrosis With ABPA
NCT00585364 ·Status: COMPLETED
-
Viral Infections and Airway Microbiome in Young Children With Cystic Fibrosis
NCT06188988 ·Status: ENROLLING_BY_INVITATION
-
Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients
NCT05545774 ·Status: COMPLETED
-
Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
NCT00467831 ·Status: TERMINATED ·Phase: PHASE1/PHASE2
-
Surrogate Markers of Response to New Therapies in Cystic Fibrosis Patients
NCT02965326 ·Status: RECRUITING ·Phase: NA
-
Rates DMBT1 ( Glycoprotein) in Sputum of CF Patients With Pseudomonas Aeruginosa
NCT02880111 ·Status: TERMINATED
-
Evaluation of the Evolution of Quality of Life in Relation to Naso-sinus Symptomatology Under Treatment With CFTE Modulators in Children Aged 6 to 11 Years With Cystic Fibrosis With Compatible Mutation
NCT05581056 ·Status: COMPLETED
-
Monitoring Response to Orkambi in Cystic Fibrosis Lung Disease by Inhaled Xenon MRI
NCT02848560 ·Status: ACTIVE_NOT_RECRUITING
-
Screening for Cystic Fibrosis and Cystic Fibrosis Related Disorders in Chinese Adults With Bronchiectasis
NCT05604495 ·Status: RECRUITING
-
Molecular Phenotypes for Cystic Fibrosis Lung Disease
NCT01116414 ·Status: COMPLETED