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

Corneal Dystrophies Clinical Trial

— F3S2  

Official title:

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT05742321
• Other study ID #: 22CH354
• Secondary ID: 2022-A01217-36
• Status: Not yet recruiting
• Start date: June 2024
• Est. completion date: June 1, 2026

Study information

• Verified date: May 2024
• Source: Centre Hospitalier Universitaire de Saint Etienne
• Contact: GILLES THURET, MD-PhD
• Phone: (0)477127793
• Email: gilles.thuret[@]univ-st-etienne.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 500
• Est. completion date: June 1, 2026
• Est. primary completion date: March 1, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Corneal Dystrophies
• Corneal Dystrophies, Hereditary

Intervention

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.

Locations

Country	Name	City	State
France	CHU Saint-Etienne	Saint-Étienne

Sponsors (2)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Saint Etienne	Kyoto University, Graduate School of Medicine

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Refraction with the auto-refractor tonometry	Analysis refraction with the auto-refractor tonometry non-contact air.	At inclusion
Secondary	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
Secondary	Corneal thickness in Optical Coherence Tomography (OCT)	Corneal thickness measured by OCT in micrometers	At inclusion
Secondary	Diameter of the dilated pupil (mm)	Measured by contact or non-contact biometry	At inclusion
Secondary	Thickness of the lens (mm)	Measured by contact or non-contact biometry	At inclusion
Secondary	Depth of the anterior chamber (mm)	Measured by contact or non-contact biometry	At inclusion
Secondary	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"
Secondary	Crystalline analysis	Crystalline : clear lens, cataract, intraocular implant, aphakic	Immediately after surgery of corneal transplantation"
Secondary	Family cases of Fuchs' Corneal Endothelial Dystrophy	Family cases: absent/probable/advanced	At inclusion
Secondary	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