F3S2: Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France

• Sponsor: Centre Hospitalier Universitaire de Saint Etienne (Other)
• Overall Status: Not yet recruiting
• CT.gov ID: NCT05742321
• Collaborator: Kyoto University, Graduate School of Medicine (Other)
• Enrollment: 500
• Location: 1
• Anticipated Duration (Months): 6
• Patients Per Site Per Month: 83.2

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Corneal Dystrophies	Genetic: Genotyping; Diagnostic Test: Histology; Other: Collection of data

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.

Study Design

• Study Type: Observational
• Anticipated Enrollment: 500 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• 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
• Anticipated Study Start Date: Apr 1, 2023
• Anticipated Primary Completion Date: Oct 1, 2023
• Anticipated Study Completion Date: Oct 1, 2023

Arms and Interventions

Arm

Intervention/Treatment

Patients with FECD Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample

Genetic: Genotyping; Genotyping will measure the triple nucleotide repeat in the TCF4 gene and search for other known mutations in other genes Blood sample will be performed (genetic analyses).; Diagnostic Test: Histology; Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis; Other: Collection of data; Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.

Outcome Measures

Primary Outcome Measures

1. Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene [At inclusion]

   Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)

Secondary Outcome Measures

1. Refraction with the auto-refractor tonometry [At inclusion]

   Analysis refraction with the auto-refractor tonometry non-contact air.

2. ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale) [At inclusion]

   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).

3. Corneal thickness in Optical Coherence Tomography (OCT) [At inclusion]

   Corneal thickness measured by OCT in micrometers

4. Diameter of the dilated pupil (mm) [At inclusion]

   Measured by contact or non-contact biometry

5. Thickness of the lens (mm) [At inclusion]

   Measured by contact or non-contact biometry

6. Depth of the anterior chamber (mm) [At inclusion]

   Measured by contact or non-contact biometry

7. Endothelial cell density measurement (cells/mm2) [Immediately after surgery of corneal transplantation"]

   Endothelial cell density (cells/mm2) in the center and in the 4 standardized cardinal positions high low nasal temporal.

8. Crystalline analysis [Immediately after surgery of corneal transplantation"]

   Crystalline : clear lens, cataract, intraocular implant, aphakic

9. Family cases of Fuchs' Corneal Endothelial Dystrophy [At inclusion]

   Family cases: absent/probable/advanced

10. Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene. [At inclusion]

    PCR reactions will be performed from DNA (blood sample)

Eligibility Criteria

Criteria

• Ages Eligible for Study: 18 Years and Older
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Centre Hospitalier de Saint-Etienne	Saint-Étienne		France	42055

Sponsors and Collaborators

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

Investigators

• Principal Investigator: GILLES THURET, MD-PhD, CHU DE SAINT-ETIENNE

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Centre Hospitalier Universitaire de Saint Etienne
• ClinicalTrials.gov Identifier: NCT05742321
• Other Study ID Numbers: 22CH354; 2022-A01217-36
• First Posted: Feb 23, 2023
• Last Update Posted: Feb 23, 2023
• Last Verified: Feb 1, 2023

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Keywords provided by Centre Hospitalier Universitaire de Saint Etienne: Corneal Dystrophies; Corneal Endothelial Dystrophy; Fuchs' Corneal Endothelial Dystrophy, FECD
• Additional relevant MeSH terms: Corneal Dystrophies, Hereditary

Study Results

No Results Posted as of Feb 23, 2023