NCT05742321

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

Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study (Phase 2), F3S2

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 500 (estimated)
• Sponsor: Centre Hospitalier Universitaire de Saint Etienne · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Detailed description

The most frequent genetic abnormalities have been published since 10 years and can now be easily searched. This study is going to analyze the relationships between clinical, histological and genetic forms in a large population to better understand how histological abnormalities are formed.

Conditions

• Corneal Dystrophies

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2024-08-08
• Primary completion: 2026-03-01
• Completion: 2026-06-01
• First posted: 2023-02-23
• Last updated: 2024-08-09

Locations

1 site across 1 country: France