Clinical trial NCT05742321: Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France
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
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Corneal Dystrophies
Keywords: Corneal Dystrophies
Corneal Endothelial Dystrophy
Fuchs' Corneal Endothelial Dystrophy, FECD
Lead sponsor: Centre Hospitalier Universitaire de Saint Etienne
Sponsor class: OTHER
Collaborators: name: Kyoto University, Graduate School of Medicine
First posted: 2023-02-23
Enrollment: 500
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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;

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.

Eligibility criteria: 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

Primary outcomes:
measure: Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
timeFrame: At inclusion
Secondary outcomes:
measure: Refraction with the auto-refractor tonometry
timeFrame: At inclusion
measure: ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale)
timeFrame: At inclusion
measure: Corneal thickness in Optical Coherence Tomography (OCT)
timeFrame: At inclusion
measure: Diameter of the dilated pupil (mm)
timeFrame: At inclusion
measure: Thickness of the lens (mm)
timeFrame: At inclusion
measure: Depth of the anterior chamber (mm)
timeFrame: At inclusion
measure: Endothelial cell density measurement (cells/mm2)
timeFrame: Immediately after surgery of corneal transplantation"
measure: Crystalline analysis
timeFrame: Immediately after surgery of corneal transplantation"
measure: Family cases of Fuchs' Corneal Endothelial Dystrophy
timeFrame: At inclusion
measure: Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
timeFrame: At inclusion
Other outcomes:
Locations:
city: Saint-Étienne
country: France
facility: CHU Saint-Etienne
Study officials:
affiliation: CHU DE SAINT-ETIENNE
name: GILLES THURET, MD-PhD
role: PRINCIPAL_INVESTIGATOR
References: