Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France (F3S2)

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

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.

Study Overview

• Status: Recruiting
• Conditions: Corneal Dystrophies
• Intervention / Treatment: Genetic: Genotyping; Diagnostic test: Histology; Other: Collection of data

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 Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: GILLES THURET, MD-PhD; Phone Number: +33 (0)477127793; Email: gilles.thuret@univ-st-etienne.fr
• Study Contact Backup: Name: PHILIPPE GAIN, MD-PhD; Phone Number: +33 0477127793; Email: philippe.gain@chu-st-etienne.fr

Study Locations

• France
  • Saint-Etienne, France, 42055
    • Recruiting
    • Chu Saint-Etienne
    • Sub-Investigator: Marie-Caroline TRONE, MD
    • Principal Investigator: Gilles THURET, MD PhD
    • Sub-Investigator: Philippe GAIN, MD PhD
    • Sub-Investigator: Emera CHHUY, MD
    • Sub-Investigator: Lise LANFANT, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patient with FECD as evidenced by slit lamp examination and scheduled for endothelial transplantation within one quarter of inclusion;

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

Patients with FECD; Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample

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.

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Refraction with the auto-refractor tonometry	Analysis refraction with the auto-refractor tonometry non-contact air.	At inclusion
ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale)	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).	At inclusion
Corneal thickness in Optical Coherence Tomography (OCT)	Corneal thickness measured by OCT in micrometers	At inclusion
Diameter of the dilated pupil (mm)	Measured by contact or non-contact biometry	At inclusion
Thickness of the lens (mm)	Measured by contact or non-contact biometry	At inclusion
Depth of the anterior chamber (mm)	Measured by contact or non-contact biometry	At inclusion
Endothelial cell density measurement (cells/mm2)	Endothelial cell density (cells/mm2) in the center and in the 4 standardized cardinal positions high low nasal temporal.	Immediately after surgery of corneal transplantation"
Crystalline analysis	Crystalline : clear lens, cataract, intraocular implant, aphakic	Immediately after surgery of corneal transplantation"
Family cases of Fuchs' Corneal Endothelial Dystrophy	Family cases: absent/probable/advanced	At inclusion
Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.	PCR reactions will be performed from DNA (blood sample)	At inclusion

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Saint Etienne
• Collaborators: Kyoto University, Graduate School of Medicine
• Investigators: Principal Investigator: GILLES THURET, MD-PhD, CHU de Saint-Etienne

Study record dates

Study Major Dates

• Study Start (Actual): August 8, 2024
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): September 1, 2026

Study Registration Dates

• First Submitted: February 13, 2023
• First Submitted That Met QC Criteria: February 22, 2023
• First Posted (Actual): February 23, 2023

Study Record Updates

• Last Update Posted (Actual): May 6, 2026
• Last Update Submitted That Met QC Criteria: May 5, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Corneal Dystrophies; Corneal Endothelial Dystrophy; Fuchs' Corneal Endothelial Dystrophy, FECD
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Eye Diseases; Corneal Diseases; Eye Diseases, Hereditary; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Fuchs' Endothelial Dystrophy; Corneal Dystrophies, Hereditary; Corneal Dystrophy, Posterior Polymorphous, 1; Investigative Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Cytological Techniques; Genetic Phenomena; Histological Techniques; Histocytological Preparation Techniques; Staining and Labeling; Genotype; Shadowing Technique, Histology
• Other Study ID Numbers: 22CH354; 2022-A01217-36 (Other Identifier: ANSM)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No