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

Recruiting

• Conditions: Corneal Dystrophies
• Interventions: Genetic: Genotyping; Diagnostic Test: Histology; Other: Collection of data

• Registration Number: NCT05742321
• Lead Sponsor: Centre Hospitalier Universitaire de Saint Etienne

Brief 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.

Study Timeline

• Study First Submitted: 2023-02-13
• Study First Submitted QC: 2023-02-22
• Study First Posted: 2023-02-23
• Status Verified: 2024-08
• Study Start: 2024-08-08
• Last Update Submitted: 2024-08-08
• Last Update Posted: 2024-08-09
• Primary Completion: 2026-03-01
• Study Completion: 2026-06-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

Inclusion Criteria

• affiliated with or entitled to a social security scheme
• Consent form to participate in the study signed
• with an FECD certified by slit lamp examination
• requiring an endothelial keratoplasty

Exclusion Criteria

• Patients under guardianship or curators

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients with FECD	Histology	Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample
Patients with FECD	Collection of data	Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample
Patients with FECD	Genotyping	Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample

Primary Outcome Measures

Name	Time	Method
Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene	At inclusion	Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)

Secondary Outcome Measures

Name	Time	Method
Corneal thickness in Optical Coherence Tomography (OCT)	At inclusion	Corneal thickness measured by OCT in micrometers
Refraction with the auto-refractor tonometry	At inclusion	Analysis refraction with the auto-refractor tonometry non-contact air.
ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale)	At inclusion	ETDRS (Early Treatment Diabetic Retinopathy Study) scale will be allowed to measure visual acuity uses an eye chart with 5 letters per line. The scores range from 0 (no letters read correctly) to 100 (all letters read correctly).
Diameter of the dilated pupil (mm)	At inclusion	Measured by contact or non-contact biometry
Endothelial cell density measurement (cells/mm2)	Immediately after surgery of corneal transplantation"	Endothelial cell density (cells/mm2) in the center and in the 4 standardized cardinal positions high low nasal temporal.
Thickness of the lens (mm)	At inclusion	Measured by contact or non-contact biometry
Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.	At inclusion	PCR reactions will be performed from DNA (blood sample)
Depth of the anterior chamber (mm)	At inclusion	Measured by contact or non-contact biometry
Family cases of Fuchs' Corneal Endothelial Dystrophy	At inclusion	Family cases: absent/probable/advanced
Crystalline analysis	Immediately after surgery of corneal transplantation"	Crystalline : clear lens, cataract, intraocular implant, aphakic

Trial Locations

Locations (1)

CHU Saint-Etienne; 🇫🇷 Saint-Étienne, France