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

NCT05742321 | Recruiting

• 2 other identifiers: 22CH3542022-A01217-36
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

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.

Conditions

Corneal Dystrophies

Keywords

Corneal Dystrophies; Corneal Endothelial Dystrophy; Fuchs' Corneal Endothelial Dystrophy, FECD

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (10)

• Refraction with the auto-refractor tonometry

  At inclusion

• ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale)

  At inclusion

• Corneal thickness in Optical Coherence Tomography (OCT)

  At inclusion

• Diameter of the dilated pupil (mm)

  At inclusion

• Thickness of the lens (mm)

  At inclusion

Study Arms (1)

Patients with FECD

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

Genetic: Genotyping; Diagnostic Test: Histology; Other: Collection of data

Interventions

Genotyping GENETIC

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).

Patients with FECD

Histology DIAGNOSTIC_TEST

Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis

Patients with FECD

Collection of data OTHER

Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.

Patients with FECD

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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;

You may qualify if:

• 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

You may not qualify if:

• \- Patients under guardianship or curators

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Saint Etienne: lead
• Kyoto University, Graduate School of Medicine: collaborator

Study Sites (1)

CHU Saint-Etienne

Saint-Etienne, 42055, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample will be performed (genetic analyses)

MeSH Terms

Conditions

Corneal Dystrophies, Hereditary; Corneal Dystrophy, Posterior Polymorphous, 1; Fuchs' Endothelial Dystrophy

Interventions

Genotype; Shadowing Technique, Histology

Condition Hierarchy (Ancestors)

Corneal Diseases; Eye Diseases; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Genetic Phenomena; Staining and Labeling; Histocytological Preparation Techniques; Cytological Techniques; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Histological Techniques; Investigative Techniques

Study Officials

• GILLES THURET, MD-PhD

  CHU DE SAINT-ETIENNE

  PRINCIPAL INVESTIGATOR

Central Study Contacts

GILLES THURET, MD-PhD

CONTACT

(0)477127793; gilles.thuret@univ-st-etienne.fr

PHILIPPE GAIN, MD-PhD

CONTACT

0477127793; philippe.gain@chu-st-etienne.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 13, 2023
• First Posted: February 23, 2023
• Study Start: August 8, 2024
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: May 6, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)