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

NCT ID: NCT05742321

Last Updated: 2024-08-09

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-08-08

Study Completion Date

2026-06-01

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Corneal Dystrophies

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with FECD

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

Genotyping

Intervention Type GENETIC

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).

Histology

Intervention Type DIAGNOSTIC_TEST

Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis

Collection of data

Intervention Type OTHER

Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.

Interventions

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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).

Intervention Type GENETIC

Histology

Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis

Intervention Type DIAGNOSTIC_TEST

Collection of data

Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.

Intervention Type OTHER

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Kyoto University, Graduate School of Medicine

OTHER

Sponsor Role collaborator

Centre Hospitalier Universitaire de Saint Etienne

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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GILLES THURET, MD-PhD

Role: PRINCIPAL_INVESTIGATOR

CHU DE SAINT-ETIENNE

Locations

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CHU Saint-Etienne

Saint-Etienne, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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GILLES THURET, MD-PhD

Role: CONTACT

(0)477127793 ext. +33

PHILIPPE GAIN, MD-PhD

Role: CONTACT

0477127793 ext. +33

Other Identifiers

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2022-A01217-36

Identifier Type: OTHER

Identifier Source: secondary_id

22CH354

Identifier Type: -

Identifier Source: org_study_id

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