An observational study in Fuchs Endothelial Corneal Dystrophy, sponsored by Centre Hospitalier Universitaire de Saint Etienne. Completed at 1 site in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-04-18.
Sponsored by Centre Hospitalier Universitaire de Saint Etienne · Observational
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.
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.
92 studies on the registry are indexed under Fuchs' Endothelial Dystrophy; 27 are open to participants now.
This study's enrollment of 208 is above the median of 144 across 26 observational studies indexed under Fuchs' Endothelial Dystrophy.
Browse Fuchs' Endothelial Dystrophy studies →Centre Hospitalier Universitaire de Saint Etienne is the lead sponsor of 597 studies on the registry; 127 are open to participants now.
Counted across the registry records on this site, refreshed daily.
There are 2 cohorts: patient and control.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
For patient group:
For control group:
Exclusion Criteria:
For patient group:
For control group:
Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of datas and a blood sample.
Other: Collection of datas · Biological: blood sample
Witness will be included in control group. They will have a blood sample and slit lamp examination.
Biological: blood sample · Other: slit lamp examination
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 will be performed (genetic analyses).
Slit lamp examination will be performed.
Visual acuity
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.
Time frame: Year: 0 and 1
CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
Analysis number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene.
Time frame: Year: 0 and 1
Mutation rs613872
Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
Time frame: Year: 0 and 1
Other mutation
Analysis frequency of the other mutation type nucleotide polymorphisms in the intron of the Transcription Factor 4 (TCF4) gene.
Time frame: Year: 0 and 1
Refraction with the auto-refractor tonometry
Analysis refraction with the auto-refractor tonometry non-contact air.
Time frame: Year: 0 and 1
ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation
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).
Time frame: Year: 0 and 1
interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography
Correlation between interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography results.
Time frame: Year: 0 and 1
Corneal thickness in Optical Coherence Tomography (OCT)
Comparison corneal thickness in Optical Coherence Tomography (OCT).
Time frame: Year: 0 and 1
Reflectivity results measure by Optical Coherence Tomography (OCT)
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.
Time frame: Year: 0 and 1
Plan to share: No
No publications or documents are linked to this record.
Ran from Aug 2019 to primary completion in Nov 2020, 15 months.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Apr 2023. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Fuchs' Endothelial Dystrophy →
Centre Hospitalier Universitaire de Saint Etienne →