Clinical trial NCT03974230: 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, F3S
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fuchs Endothelial Corneal Dystrophy
Keywords: Cornea
Fuchs Endothelial Corneal Dystrophy (FECD)
slit lamp
Transcription Factor 4 (TCF4)
chromosome 18
genetic
Lead sponsor: Centre Hospitalier Universitaire de Saint Etienne
Sponsor class: OTHER
Collaborators: name: Kyoto University, Graduate School of Medicine
First posted: 2019-06-04
Enrollment: 208
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: There are 2 cohorts: patient and control.

Brief summary: The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy (FECD)) is beginning to be dismembered. One of the most common genetic anomalies is a triplet repetition in one of the introns of the Transcription Factor 4 (TCF4) gene located on chromosome 18. However, the number of repetitions varies greatly from one patient to another.

Detailed description: The intent of that study was to analyse if there is a relationship between the number of triplet repetitions and the rate of disease progression. This knowledge would make it possible to personalize the care.

Eligibility criteria: Inclusion Criteria:

For patient group:

* \>18 years old
* affiliated with or entitled to a social security scheme
* having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study
* with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination

For control group:

* \>18 years old
* affiliated with or entitled to a social security scheme
* having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study

Exclusion Criteria:

For patient group:

* Patients under guardianship or curatorship
* Patient planning to move within the year
* With no evidence of ophthalmological pathology requiring intraocular surgery within one year of the first visit
* Better initial corrected visual acuity \<1/10
* Not having had intraocular surgery in the 6 months prior to inclusion (after 6 months, the endothelium is considered stabilized)
* Not having any other progressive pathology responsible for a decrease in visual acuity (significant cataract Lens Opacities Classification System (LOCS) \>2 ; progressive retinal pathology, in particular age-related macular degeneration, unstabilized macular edema)

For control group:

* Patients under guardianship or curatorship
* with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination

Primary outcomes:
measure: Visual acuity
timeFrame: Year: 0 and 1
Secondary outcomes:
measure: CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
timeFrame: Year: 0 and 1
measure: Mutation rs613872
timeFrame: Year: 0 and 1
measure: Other mutation
timeFrame: Year: 0 and 1
measure: Refraction with the auto-refractor tonometry
timeFrame: Year: 0 and 1
measure: ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation
timeFrame: Year: 0 and 1
measure: interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography
timeFrame: Year: 0 and 1
measure: Corneal thickness in Optical Coherence Tomography (OCT)
timeFrame: Year: 0 and 1
measure: Reflectivity results measure by Optical Coherence Tomography (OCT)
timeFrame: Year: 0 and 1
Other outcomes:
Locations:
city: Saint-Étienne
country: France
facility: Chu Saint-Etienne
Study officials:
affiliation: CHU SAINT-ETIENNE
name: Gilles THURET, MD PhD
role: PRINCIPAL_INVESTIGATOR
References: