Corneal DystrophiesF3S2NCT05742321
Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France
An observational study of Corneal Dystrophies, run by Centre Hospitalier Universitaire de Saint Etienne at 1 site in France.
Trial summary
The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy, FECD) is beginning to be dismembered. There is a significant heterogeneity in the clinical forms and the investigators have just highlighted a great diversity of histological forms that seem to define distinct… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Corneal Dystrophies
- What is being tested?
- Genotyping, Histology and Collection of data
- How many people
- 500 participants
- Where
- 1 siteFrance
- Study dates
- 8 Aug 2024to 1 Sep 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patient with FECD as evidenced by slit lamp examination and scheduled for endothelial transplantation within one quarter of inclusion;
Who may be able to join
- affiliated with or entitled to a social security scheme
- Consent form to participate in the study signed
- with an FECD certified by slit lamp examination
- requiring an endothelial keratoplasty
Who cannot join
- Patients under guardianship or curators
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU Saint-Etienne
Saint-Etienne, 42055
Gilles THURET, MD PhD
Marie-Caroline TRONE, MD
About this study
Official title: Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study (Phase 2), F3S2
The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy, FECD) is beginning to be dismembered. There is a significant heterogeneity in the clinical forms and the investigators have just highlighted a great diversity of histological forms that seem to define distinct groups.
Read the detailed description
The most frequent genetic abnormalities have been published since 10 years and can now be easily searched. This study is going to analyze the relationships between clinical, histological and genetic forms in a large population to better understand how histological abnormalities are formed.
- Conditions
- Corneal Dystrophies
- Being tested
- Genotyping, Histology, Collection of data
- Keywords
- Corneal Dystrophies, Corneal Endothelial Dystrophy, Fuchs' Corneal Endothelial Dystrophy, FECD
- Medical subject headings
- Corneal Dystrophies, Hereditary, Corneal Dystrophy, Posterior Polymorphous, 1, Fuchs' Endothelial Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GenotypingGenetic
Genotyping will measure the triple nucleotide repeat in the TCF4 gene and search for other known mutations in other genes Blood sample will be performed (genetic analyses).
HistologyDiagnostic test
Histology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis
Collection of dataOther
Collection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed.
| Study group | Role | What they receive |
|---|---|---|
| Patients with FECD | Patients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample Receives: Genetic: Genotyping; Diagnostic Test: Histology; Other: Collection of data |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)
Measured: At inclusion
Secondary outcomes (10)
Refraction with the auto-refractor tonometry
Analysis refraction with the auto-refractor tonometry non-contact air.
Measured: At inclusion
ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale)
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).
Measured: At inclusion
Corneal thickness in Optical Coherence Tomography (OCT)
Corneal thickness measured by OCT in micrometers
Measured: At inclusion
Diameter of the dilated pupil (mm)
Measured by contact or non-contact biometry
Measured: At inclusion
Thickness of the lens (mm)
Measured by contact or non-contact biometry
Measured: At inclusion
Depth of the anterior chamber (mm)
Measured by contact or non-contact biometry
Measured: At inclusion
Endothelial cell density measurement (cells/mm2)
Endothelial cell density (cells/mm2) in the center and in the 4 standardized cardinal positions high low nasal temporal.
Measured: Immediately after surgery of corneal transplantation"
Crystalline analysis
Crystalline : clear lens, cataract, intraocular implant, aphakic
Measured: Immediately after surgery of corneal transplantation"
Family cases of Fuchs' Corneal Endothelial Dystrophy
Family cases: absent/probable/advanced
Measured: At inclusion
Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
PCR reactions will be performed from DNA (blood sample)
Measured: At inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Feb 2023
- Study start8 Aug 2024
- Primary completion1 Jun 2026 (estimated)
- Study completion1 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Corneal DystrophiesStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de Saint EtienneThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Kyoto University, Graduate School of Medicine
- Responsible party
- Sponsor
- Investigators
- GILLES THURET, MD-PhD, Principal investigator, CHU DE SAINT-ETIENNE
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05742321
- Sponsor's protocol ID
- 22CH354
- Other IDs
- 2022-A01217-36
- Acronym
- F3S2
- Status last verified
- May 2026
- First submitted
- 13 Feb 2023
- Last updated
- 6 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France. The French Fuchs' Follow-up Study (Phase 2), F3S2
- ClinicalTrials.gov ID
- NCT05742321
- Acronym / sponsor ID
- F3S2 / 22CH354
- Conditions
- Corneal Dystrophies
- Keywords
- Corneal Dystrophies, Corneal Endothelial Dystrophy, Fuchs' Corneal Endothelial Dystrophy, FECD
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de Saint EtienneUniversity, hospital or other
- Collaborators
- Kyoto University, Graduate School of Medicine
- Study start
- 8 Aug 2024 (actual)
- Primary completion
- 1 Jun 2026 (estimated)
- Study completion
- 1 Sep 2026 (estimated)
- First posted
- 23 Feb 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The pathophysiology of the most common corneal endothelial dystrophies (Fuchs' Corneal Endothelial Dystrophy, FECD) is beginning to be dismembered. There is a significant heterogeneity in the clinical forms and the investigators have just highlighted a great diversity of histological forms that seem to define distinct groups.
Detailed description
The most frequent genetic abnormalities have been published since 10 years and can now be easily searched. This study is going to analyze the relationships between clinical, histological and genetic forms in a large population to better understand how histological abnormalities are formed.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with FECD | – | Genetic: Genotyping, Diagnostic Test: Histology, Other: Collection of dataPatients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of data and a blood sample |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patient with FECD as evidenced by slit lamp examination and scheduled for endothelial transplantation within one quarter of inclusion;
Key inclusion criteria (4 listed)
- affiliated with or entitled to a social security scheme
- Consent form to participate in the study signed
- with an FECD certified by slit lamp examination
- requiring an endothelial keratoplasty
Key exclusion criteria (1 listed)
- Patients under guardianship or curators
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| GenotypingGenotyping will measure the triple nucleotide repeat in the TCF4 gene and search for other known mutations in other genes Blood sample will be performed (genetic analyses). | Genetic | Patients with FECD |
| HistologyHistology will be performed on flat mounted Descemet membrane obtained after Descemetorhexis | Diagnostic test | Patients with FECD |
| Collection of dataCollection of data of examination for diagnosis of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed. | Other | Patients with FECD |
Primary outcome
Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
Time frame: At inclusion
Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)
10 secondary outcomes
Refraction with the auto-refractor tonometry
Time frame: At inclusion
ETDRS scale (international standardized Early Treatment Diabetic Retinopathy Study scale)
Time frame: At inclusion
Corneal thickness in Optical Coherence Tomography (OCT)
Time frame: At inclusion
Diameter of the dilated pupil (mm)
Time frame: At inclusion
Thickness of the lens (mm)
Time frame: At inclusion
Depth of the anterior chamber (mm)
Time frame: At inclusion
Endothelial cell density measurement (cells/mm2)
Time frame: Immediately after surgery of corneal transplantation"
Crystalline analysis
Time frame: Immediately after surgery of corneal transplantation"
Family cases of Fuchs' Corneal Endothelial Dystrophy
Time frame: At inclusion
Frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
Time frame: At inclusion
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
GILLES THURET, MD-PhD principal investigator
CHU DE SAINT-ETIENNE
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Corneal Dystrophies, run by Centre Hospitalier Universitaire de Saint Etienne at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact GILLES THURET, MD-PhD ((0)477127793 ext. +33, gilles.thuret@univ-st-etienne.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene (time frame: At inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 May 2026.