NCT03974230

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, F3S

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 208 (actual)
• Sponsor: Centre Hospitalier Universitaire de Saint Etienne · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy (FECD)) is beginning to be dismembered. One of the most common genetic anomalies is a triplet repetition in one of the introns of the Transcription Factor 4 (TCF4) gene located on chromosome 18. However, the number of repetitions varies greatly from one patient to another.

Detailed description

The intent of that study was to analyse if there is a relationship between the number of triplet repetitions and the rate of disease progression. This knowledge would make it possible to personalize the care.

Conditions

• Fuchs Endothelial Corneal Dystrophy

Interventions

Type	Name	Description
OTHER	Collection of datas	Collection of datas of examination for diagnosis and follow-up of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.
BIOLOGICAL	blood sample	Blood sample will be performed (genetic analyses).
OTHER	slit lamp examination	Slit lamp examination will be performed.

Timeline

• Start date: 2019-08-01
• Primary completion: 2020-11-10
• Completion: 2021-12-14
• First posted: 2019-06-04
• Last updated: 2023-04-18

Locations

1 site across 1 country: France