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

NCT03974230 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 208

Last updated 2023-04-18

No results posted yet for this study

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

Interventions

OTHER

Collection of datas

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

BIOLOGICAL

blood sample

Blood sample will be performed (genetic analyses).

OTHER

slit lamp examination

Slit lamp examination will be performed.

Sponsors & Collaborators

  • Kyoto University, Graduate School of Medicine

    collaborator OTHER

  • Centre Hospitalier Universitaire de Saint Etienne

    lead OTHER

Principal Investigators

  • Gilles THURET, MD PhD · CHU SAINT-ETIENNE

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-08-01
Primary Completion
2020-11-10
Completion
2021-12-14

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03974230 on ClinicalTrials.gov