Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. (F3S)

Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S

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.

Study Overview

• Status: Completed
• Conditions: Fuchs Endothelial Corneal Dystrophy
• Intervention / Treatment: Other: Collection of datas; Biological: blood sample; Other: slit lamp examination

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.

• Study Type: Observational
• Enrollment (Actual): 208

Contacts and Locations

Study Locations

• France
  • Saint-Étienne, France
    • CHU SAINT-ETIENNE

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

There are 2 cohorts: patient and control.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with Fuchs Endothelial Corneal Dystrophy (FECD); Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of datas and a blood sample.	Other: Collection of datas; Collection of datas of examination for diagnosis and follow-up of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.; Biological: blood sample; Blood sample will be performed (genetic analyses).
Control group; Witness will be included in control group. They will have a blood sample and slit lamp examination.	Biological: blood sample; Blood sample will be performed (genetic analyses).; Other: slit lamp examination; Slit lamp examination will be performed.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Visual acuity	Correlation between visual acuity measured before noon eye by eye of ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale) results and number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.	Year: 0 and 1

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene	Analysis number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.	Year: 0 and 1
Mutation rs613872	Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.	Year: 0 and 1
Other mutation	Analysis frequency of the other mutation type nucleotide polymorphisms in the intron of the Transcription Factor 4 (TCF4) gene.	Year: 0 and 1
Refraction with the auto-refractor tonometry	Analysis refraction with the auto-refractor tonometry non-contact air.	Year: 0 and 1
ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation	Correlation between visual acuity measured before noon eye by eye on the ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation. 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).	Year: 0 and 1
interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography	Correlation between interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography results.	Year: 0 and 1
Corneal thickness in Optical Coherence Tomography (OCT)	Comparison corneal thickness in Optical Coherence Tomography (OCT).	Year: 0 and 1
Reflectivity results measure by Optical Coherence Tomography (OCT)	Comparison reflectivity results measure by Optical Coherence Tomography (OCT). Optical Coherence Tomography (OCT) is an imaging technique, which is able to produce, in vivo, cross-sectional images of lesions.	Year: 0 and 1

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Saint Etienne
• Collaborators: Kyoto University, Graduate School of Medicine

Study record dates

Study Major Dates

• Study Start (Actual): August 1, 2019
• Primary Completion (Actual): November 10, 2020
• Study Completion (Actual): December 14, 2021

Study Registration Dates

• First Submitted: May 29, 2019
• First Submitted That Met QC Criteria: June 3, 2019
• First Posted (Actual): June 4, 2019

Study Record Updates

• Last Update Posted (Actual): April 18, 2023
• Last Update Submitted That Met QC Criteria: April 14, 2023
• Last Verified: April 1, 2023

More Information

Terms related to this study

• Keywords: genetic; Cornea; Fuchs Endothelial Corneal Dystrophy (FECD); slit lamp; Transcription Factor 4 (TCF4); chromosome 18
• Additional Relevant MeSH Terms: Eye Diseases; Genetic Diseases, Inborn; Eye Diseases, Hereditary; Corneal Diseases; Corneal Dystrophies, Hereditary; Fuchs' Endothelial Dystrophy
• Other Study ID Numbers: 18CH199; 2019-A00284-53 (Other Identifier: ANSM)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No