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

Fuchs Endothelial Corneal Dystrophy Clinical Trial

— F3S  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03974230
• Other study ID #: 18CH199
• Secondary ID: 2019-A00284-53
• Status: Completed
• Start date: August 1, 2019
• Est. completion date: December 14, 2021

Study information

• Verified date: April 2023
• Source: Centre Hospitalier Universitaire de Saint Etienne
• Contact: n/a
• 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. 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 208
• Est. completion date: December 14, 2021
• Est. primary completion date: November 10, 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Corneal Dystrophies, Hereditary
• Fuchs Endothelial Corneal Dystrophy
• Fuchs' Endothelial Dystrophy

Intervention

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).

Other:
• slit lamp examination
Slit lamp examination 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	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	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
Secondary	Mutation rs613872	Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.	Year: 0 and 1
Secondary	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
Secondary	Refraction with the auto-refractor tonometry	Analysis refraction with the auto-refractor tonometry non-contact air.	Year: 0 and 1
Secondary	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
Secondary	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
Secondary	Corneal thickness in Optical Coherence Tomography (OCT)	Comparison corneal thickness in Optical Coherence Tomography (OCT).	Year: 0 and 1
Secondary	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