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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

Tracking Information
First Submitted Date May 29, 2019
First Posted Date June 4, 2019
Last Update Posted Date August 7, 2019
Actual Study Start Date August 1, 2019
Estimated Primary Completion Date April 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 3, 2019)
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.
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03974230 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: June 3, 2019)
  • 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.
  • Mutation rs613872 [ Time Frame: Year: 0 and 1 ]
    Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
  • 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.
  • Refraction with the auto-refractor tonometry [ Time Frame: Year: 0 and 1 ]
    Analysis refraction with the auto-refractor tonometry non-contact air.
  • 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).
  • 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.
  • Corneal thickness in Optical Coherence Tomography (OCT) [ Time Frame: Year: 0 and 1 ]
    Comparison corneal thickness in Optical Coherence Tomography (OCT).
  • 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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France.
Official Title Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study, F3S
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.
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.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood sample will be performed (genetic analyses).
Sampling Method Non-Probability Sample
Study Population There are 2 cohorts: patient and control.
Condition Fuchs Endothelial Corneal Dystrophy
Intervention
  • 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.
Study Groups/Cohorts
  • 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.
    Interventions:
    • Other: Collection of datas
    • Biological: blood sample
  • Control group
    Witness will be included in control group. They will have a blood sample and slit lamp examination.
    Interventions:
    • Biological: blood sample
    • Other: slit lamp examination
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: June 3, 2019)
208
Original Estimated Enrollment Same as current
Estimated Study Completion Date April 2022
Estimated Primary Completion Date April 2021   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
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
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03974230
Other Study ID Numbers 18CH199
2019-A00284-53 ( Other Identifier: ANSM )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Centre Hospitalier Universitaire de Saint Etienne
Study Sponsor Centre Hospitalier Universitaire de Saint Etienne
Collaborators Kyoto University, Graduate School of Medicine
Investigators
Principal Investigator: Gilles THURET, MD PhD CHU SAINT-ETIENNE
PRS Account Centre Hospitalier Universitaire de Saint Etienne
Verification Date August 2019