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Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. (F3S)

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ClinicalTrials.gov Identifier: NCT03974230
Recruitment Status : Recruiting
First Posted : June 4, 2019
Last Update Posted : August 7, 2019
Sponsor:
Collaborator:
Kyoto University, Graduate School of Medicine
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Saint Etienne

Brief 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.

Condition or disease Intervention/treatment
Fuchs Endothelial Corneal Dystrophy Other: Collection of datas Biological: blood sample Other: slit lamp examination

Detailed Description:
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.

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Study Type : Observational
Estimated Enrollment : 208 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S
Actual Study Start Date : August 1, 2019
Estimated Primary Completion Date : April 2021
Estimated Study Completion Date : April 2022


Group/Cohort Intervention/treatment
Patients with Fuchs Endothelial Corneal Dystrophy (FECD)
Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of datas and a blood sample.
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).

Control group
Witness will be included in control group. They will have a blood sample and slit lamp examination.
Biological: blood sample
Blood sample will be performed (genetic analyses).

Other: slit lamp examination
Slit lamp examination will be performed.




Primary Outcome Measures :
  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 Outcome Measures :
  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.


Biospecimen Retention:   Samples With DNA
Blood sample will be performed (genetic analyses).


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
There are 2 cohorts: patient and control.
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03974230


Contacts
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Contact: Gilles THURET, MD PhD (0)477127540 ext +33 gilles.thuret@univ-st-etienne.fr
Contact: Arnauld GARCIN, CRA (0)477120286 ext +33 Arnauld.Garcin@chu-st-etienne.fr

Locations
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France
Chu Saint-Etienne Recruiting
Saint-Étienne, France
Principal Investigator: Gilles THURET, MD PhD         
Sub-Investigator: Philippe GAIN, MD PhD         
Sub-Investigator: Marie Caroline TRONE, MD         
Sub-Investigator: Caroline RONIN, MD         
Sub-Investigator: Nicolas PERRILLAT-COLOMB, MD         
Sponsors and Collaborators
Centre Hospitalier Universitaire de Saint Etienne
Kyoto University, Graduate School of Medicine
Investigators
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Principal Investigator: Gilles THURET, MD PhD CHU SAINT-ETIENNE

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Responsible Party: Centre Hospitalier Universitaire de Saint Etienne
ClinicalTrials.gov Identifier: NCT03974230     History of Changes
Other Study ID Numbers: 18CH199
2019-A00284-53 ( Other Identifier: ANSM )
First Posted: June 4, 2019    Key Record Dates
Last Update Posted: August 7, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Centre Hospitalier Universitaire de Saint Etienne:
Cornea
Fuchs Endothelial Corneal Dystrophy (FECD)
slit lamp
Transcription Factor 4 (TCF4)
chromosome 18
genetic
Additional relevant MeSH terms:
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Fuchs' Endothelial Dystrophy
Corneal Dystrophies, Hereditary
Corneal Diseases
Eye Diseases
Eye Diseases, Hereditary
Genetic Diseases, Inborn