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Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France

NCT05742321 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2026-05-06

No results posted yet for this study

Summary

The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy, FECD) is beginning to be dismembered. There is a significant heterogeneity in the clinical forms and the investigators have just highlighted a great diversity of histological forms that seem to define distinct groups.

Conditions

  • Corneal Dystrophies

Interventions

GENETIC

Genotyping

Genotyping will measure the triple nucleotide repeat in the TCF4 gene and search for other known mutations in other genes Blood sample will be performed (genetic analyses).

DIAGNOSTIC_TEST

Histology

Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis

OTHER

Collection of data

Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.

Sponsors & Collaborators

  • Kyoto University, Graduate School of Medicine

    collaborator OTHER

  • Centre Hospitalier Universitaire de Saint Etienne

    lead OTHER

Principal Investigators

  • GILLES THURET, MD-PhD · CHU DE SAINT-ETIENNE

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-08-08
Primary Completion
2026-06-01
Completion
2026-09-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05742321 on ClinicalTrials.gov