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NCT Number: NCT05742321

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

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.

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Key information

Conditions

Corneal Dystrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities Corneal Diseases Corneal Dystrophies, Hereditary Corneal Dystrophy, Posterior Polymorphous, 1 Eye Diseases Eye Diseases, Hereditary Fuchs' Endothelial Dystrophy Genetic Diseases, Inborn

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Saint-Etienne

Saint-Etienne, 42055, France

Location status: Recruiting

Location contact

Emera CHHUY, MD

SUB_INVESTIGATOR

Gilles THURET, MD PhD

PRINCIPAL_INVESTIGATOR

Lise LANFANT, MD

SUB_INVESTIGATOR

Marie-Caroline TRONE, MD

SUB_INVESTIGATOR

Philippe GAIN, MD PhD

SUB_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Genotyping

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

Diagnostic Test

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

Collection of data

Other

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

Primary outcomes

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

    Time frame: At inclusion

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

Secondary outcomes

  1. Refraction with the auto-refractor tonometry

    Time frame: At inclusion

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

  2. ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale)

    Time frame: 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)

    Time frame: At inclusion

    Corneal thickness measured by OCT in micrometers

  4. Diameter of the dilated pupil (mm)

    Time frame: At inclusion

    Measured by contact or non-contact biometry

  5. Thickness of the lens (mm)

    Time frame: At inclusion

    Measured by contact or non-contact biometry

  6. Depth of the anterior chamber (mm)

    Time frame: At inclusion

    Measured by contact or non-contact biometry

  7. Endothelial cell density measurement (cells/mm2)

    Time frame: 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

    Time frame: Immediately after surgery of corneal transplantation"

    Crystalline : clear lens, cataract, intraocular implant, aphakic

  9. Family cases of Fuchs' Corneal Endothelial Dystrophy

    Time frame: At inclusion

    Family cases: absent/probable/advanced

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

    Time frame: At inclusion

    PCR reactions will be performed from DNA (blood sample)

Study contacts

Contact information is provided by the study sponsor or research team.

GILLES THURET, MD-PhD

CONTACT

[email protected]

(0)477127793 ext. +33

PHILIPPE GAIN, MD-PhD

CONTACT

[email protected]

0477127793 ext. +33

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Saint Etienne

Other

Collaborators

  • Kyoto University, Graduate School of Medicine

Registry information

Official study title

Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study (Phase 2), F3S2

Acronym: F3S2

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Feb 23, 2023
Registry last updated
May 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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