Actively Recruiting
Analysis of the Genotype/Phenotype Relationship in Fuchs' Corneal Endothelial Dystrophy in France The French Fuchs' Follow-up Study (Phase 2), F3S2
Led by Centre Hospitalier Universitaire de Saint Etienne · Updated on 2026-05-06
500
Participants Needed
1
Research Sites
13 weeks
Total Duration
On this page
Sponsors
C
Centre Hospitalier Universitaire de Saint Etienne
Lead Sponsor
K
Kyoto University, Graduate School of Medicine
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are investigating the genotype and phenotype relationships in Fuchs' Corneal Endothelial Dystrophy (FECD), one of the most common corneal endothelial dystrophies. This study aims to better understand the diverse clinical and histological forms of FECD by analyzing how genetic abnormalities relate to these variations. The study focuses on the genetic and histological factors that contribute to the formation of corneal endothelial abnormalities. Participants with FECD will undergo genetic testing to measure the triple nucleotide repeat in the TCF4 gene and check for other known mutations through blood samples. Histological analysis will be performed on Descemet membrane samples taken after Descemetorhexis surgery. Additionally, clinical data including slit lamp examination results will be collected to aid diagnosis. The study is observational and involves collecting data and samples from patients requiring endothelial keratoplasty. During the study, participants will have various eye assessments such as refraction, corneal thickness measured by Optical Coherence Tomography, pupil diameter, lens thickness, anterior chamber depth, and endothelial cell density after surgery. Researchers will analyze genetic markers like the CTG triplet repeats in the TCF4 gene and mutation frequencies. Participant involvement includes signing consent and providing blood samples, with data collected at inclusion and post-surgery timepoints. The study will monitor these outcomes to enhance understanding of FECD and its genetic factors.
CONDITIONS
Brief Title
Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Affiliated with or entitled to a social security scheme
- Signed consent form to participate in the study
- Diagnosis of Fuchs' Corneal Endothelial Dystrophy confirmed by slit lamp examination
- Requires endothelial keratoplasty
You will not qualify if you...
- Patients under guardianship or curatorship
AI-Screening
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Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - At inclusion
Participants undergo clinical examination and genetic testing to assess Fuchs' Corneal Endothelial Dystrophy, including blood sample collection for genotyping and data collection of eye examinations.
1 visit (in-person)
Duration - Immediately after surgery
Participants who require endothelial keratoplasty receive surgery and immediate post-operative assessments including endothelial cell density measurement and crystalline analysis.
1 to 2 visits depending on surgery schedule
Trial Site Locations
Total: 1 location
1
CHU Saint-Etienne
Saint-Etienne, France, 42055
Actively Recruiting
Research Team
G
GILLES THURET, MD-PhD
P
PHILIPPE GAIN, MD-PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Frequently Asked Questions
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