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

ConditionCorneal Dystrophies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorCentre Hospitalier Universitaire de Saint Etienne

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

None

Trial population

Patient with FECD as evidenced by slit lamp examination and scheduled for endothelial transplantation within one quarter of inclusion;

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

  • 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 intervention

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

Treatment groups

500 Participants
are divided into 1 treatment group
Group A: Patients with FECD3 interventions

Trial outcomes

Primary outcomes

1

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

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

Time frame
At inclusion

Secondary outcomes

1

Refraction with the auto-refractor tonometry

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

Time frame
At inclusion
2

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

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).

Time frame
At inclusion
3

Corneal thickness in Optical Coherence Tomography (OCT)

Corneal thickness measured by OCT in micrometers

Time frame
At inclusion
4

Diameter of the dilated pupil (mm)

Measured by contact or non-contact biometry

Time frame
At inclusion

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Centre Hospitalier Universitaire de Saint Etienne

Lead sponsor

Kyoto University, Graduate School of Medicine

Collaborator

Source ClinicalTrials.gov
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