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

NCT03974230 | Completed

• 2 other identifiers: 18CH1992019-A00284-53
• Study Type: observational
• Target: 208
• Locations: 1 country
• Sites: 1

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.

Conditions

Fuchs Endothelial Corneal Dystrophy

Keywords

Cornea; Fuchs Endothelial Corneal Dystrophy (FECD); slit lamp; Transcription Factor 4 (TCF4); chromosome 18; genetic

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (8)

• CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene

  Year: 0 and 1

• Mutation rs613872

  Year: 0 and 1

• Other mutation

  Year: 0 and 1

• Refraction with the auto-refractor tonometry

  Year: 0 and 1

• ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation

  Year: 0 and 1

Study Arms (2)

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; Biological: blood sample

Control group

Witness will be included in control group. They will have a blood sample and slit lamp examination.

Biological: blood sample; Other: slit lamp examination

Interventions

Collection of datas OTHER

Collection of datas of examination for diagnosis and follow-up of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.

Patients with Fuchs Endothelial Corneal Dystrophy (FECD)

blood sample BIOLOGICAL

Blood sample will be performed (genetic analyses).

Control group; Patients with Fuchs Endothelial Corneal Dystrophy (FECD)

slit lamp examination OTHER

Slit lamp examination will be performed.

Control group

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

There are 2 cohorts: patient and control.

You may qualify if:

• 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

You may not qualify if:

• 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 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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Saint Etienne: lead
• Kyoto University, Graduate School of Medicine: collaborator

Study Sites (1)

Chu Saint-Etienne

Saint-Etienne, France

Location

Related Publications (2)

• Dorado Cortez O, Fleischmann Caruso D, Crouzet E, Poinard S, Trone MC, Gain P, Okumura N, Koizumi N, Thuret G. Assessing Corneal Tomographic Changes in Fuchs Endothelial Corneal Dystrophy Over 1 Year: Scheimpflug Versus Anterior Segment Optical Coherence Tomography. Cornea. 2024 Dec 11;44(9):1127-1135. doi: 10.1097/ICO.0000000000003771.

  PMID: 39661178 DERIVED

• Dorado-Cortez O, Crouzet E, Trone MC, Gain P, He Z, Vaitinadapoule H, Mentek M, Mascarelli F, Poinard S, Yasunaga M, Nishiuchi G, Koizumi N, Okumura N, Thuret G. Change in Visual Acuity of Patients With Fuchs Endothelial Corneal Dystrophy Over 1 Year. Cornea. 2024 Oct 1;43(10):1207-1215. doi: 10.1097/ICO.0000000000003590. Epub 2024 Jul 9.

  PMID: 39288343 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample will be performed (genetic analyses).

MeSH Terms

Conditions

Fuchs' Endothelial Dystrophy; Corneal Diseases

Interventions

Blood Specimen Collection; Slit Lamp

Condition Hierarchy (Ancestors)

Corneal Dystrophies, Hereditary; Eye Diseases; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques; Ophthalmoscopes; Diagnostic Equipment; Equipment and Supplies

Study Officials

• Gilles THURET, MD PhD

  CHU SAINT-ETIENNE

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 29, 2019
• First Posted: June 4, 2019
• Study Start: August 1, 2019
• Primary Completion: November 10, 2020
• Study Completion: December 14, 2021
• Last Updated: April 18, 2023

Record last verified: 2023-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)