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NCT Number: NCT03974230

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. 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.

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Key information

Conditions

Fuchs Endothelial Corneal Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Corneal Diseases Corneal Dystrophies, Hereditary 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, France

About this study

The intent of that study was to analyse if there is a relationship between the number of triplet repetitions and the rate of disease progression. This knowledge would make it possible to personalize the care.

Who can participate

Healthy volunteers accepted: Yes

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

Inclusion criteria

For patient group:

  • >18 years old
  • affiliated with or entitled to a social security scheme
  • having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study
  • with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination

For control group:

  • >18 years old
  • affiliated with or entitled to a social security scheme
  • having received informed information about the study and having co-signed, with the investigator, a consent to participate in the study

Exclusion criteria

For patient group:

  • Patients under guardianship or curatorship
  • Patient planning to move within the year
  • With no evidence of ophthalmological pathology requiring intraocular surgery within one year of the first visit
  • Better initial corrected visual acuity <1/10
  • Not having had intraocular surgery in the 6 months prior to inclusion (after 6 months, the endothelium is considered stabilized)
  • Not having any other progressive pathology responsible for a decrease in visual acuity (significant cataract Lens Opacities Classification System (LOCS) >2 ; progressive retinal pathology, in particular age-related macular degeneration, unstabilized macular edema)

For control group:

  • Patients under guardianship or curatorship
  • with an Fuchs Endothelial Corneal Dystrophy (FECD) certified by slit lamp examination

Treatment and study plan

Collection of datas

Other

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

Blood sample

Biological

Blood sample will be performed (genetic analyses).

slit lamp examination

Other

Slit lamp examination will be performed.

Primary outcomes

  1. Visual acuity

    Time frame: Year: 0 and 1

    Correlation between visual acuity measured before noon eye by eye of ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale) results and number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.

Secondary outcomes

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

    Time frame: Year: 0 and 1

    Analysis number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.

  2. Mutation rs613872

    Time frame: Year: 0 and 1

    Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.

  3. Other mutation

    Time frame: Year: 0 and 1

    Analysis frequency of the other mutation type nucleotide polymorphisms in the intron of the Transcription Factor 4 (TCF4) gene.

  4. Refraction with the auto-refractor tonometry

    Time frame: Year: 0 and 1

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

  5. ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation

    Time frame: Year: 0 and 1

    Correlation between visual acuity measured before noon eye by eye on the ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation.

    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).

  6. interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography

    Time frame: Year: 0 and 1

    Correlation between interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography results.

  7. Corneal thickness in Optical Coherence Tomography (OCT)

    Time frame: Year: 0 and 1

    Comparison corneal thickness in Optical Coherence Tomography (OCT).

  8. Reflectivity results measure by Optical Coherence Tomography (OCT)

    Time frame: Year: 0 and 1

    Comparison reflectivity results measure by Optical Coherence Tomography (OCT). Optical Coherence Tomography (OCT) is an imaging technique, which is able to produce, in vivo, cross-sectional images of lesions.

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, F3S

Acronym: F3S

Important dates

Study start
2019
Primary completion
2020
Study completion
2021
First posted
Jun 4, 2019
Registry last updated
Apr 18, 2023

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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