Fuchs Endothelial Corneal DystrophyF3SNCT03974230
Analysis of the Genotype/Phenotype Relationship in the Fuchs' Corneal Endothelial Dystrophy in France.
An observational study of Fuchs Endothelial Corneal Dystrophy, 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. 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Fuchs Endothelial Corneal Dystrophy
- What is being tested?
- Collection of datas, blood sample and slit lamp examination
- How many people
- 208 participants
- Where
- 1 siteFrance
- Study dates
- 1 Aug 2019to 14 Dec 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
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
- Healthy volunteers accepted
- Adult, Older adult
Study population: There are 2 cohorts: patient and control.
Who may be able to join
- 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:
Show all 9Show fewer
- >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
Who cannot join
- 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)
Show all 10Show fewer
- 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
Trial locations and contacts
1 site in 1 country.
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, F3S
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.
Read the 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.
- Conditions
- Fuchs Endothelial Corneal Dystrophy
- Being tested
- Collection of datas, blood sample, slit lamp examination
- Keywords
- Cornea, Fuchs Endothelial Corneal Dystrophy (FECD), slit lamp, Transcription Factor 4 (TCF4), chromosome 18, genetic
- Medical subject headings
- Fuchs' Endothelial Dystrophy, Corneal Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Collection of datasOther
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 sampleBiological
Blood sample will be performed (genetic analyses).
slit lamp examinationOther
Slit lamp examination will be performed.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. Receives: Biological: blood sample; Other: slit lamp examination |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Year: 0 and 1
Secondary outcomes (8)
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.
Measured: Year: 0 and 1
Mutation rs613872
Analysis frequency of the mutation rs613872 in the intron of the Transcription Factor 4 (TCF4) gene.
Measured: 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.
Measured: Year: 0 and 1
Refraction with the auto-refractor tonometry
Analysis refraction with the auto-refractor tonometry non-contact air.
Measured: 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).
Measured: 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.
Measured: Year: 0 and 1
Corneal thickness in Optical Coherence Tomography (OCT)
Comparison corneal thickness in Optical Coherence Tomography (OCT).
Measured: 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.
Measured: Year: 0 and 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jun 2019
- Study start1 Aug 2019
- Primary completion10 Nov 2020
- Study completion14 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Fuchs Endothelial Corneal DystrophyStudies 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
- 208 participants (actual)
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, Centre Hospitalier Universitaire de Saint Etienne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03974230
- Sponsor's protocol ID
- 18CH199
- Other IDs
- 2019-A00284-53
- Acronym
- F3S
- Status last verified
- Apr 2023
- First submitted
- 29 May 2019
- Last updated
- 18 Apr 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Dorado Cortez O, Fleischmann Caruso D, Crouzet E, Poinard S, Trone MC, Gain P, Okumura N, Koizumi N, Thuret G. Assessing Corneal Tomographic Changes in Fuchs Endothelial Corneal Dystrophy Over 1 Year: Scheimpflug Versus Anterior Segment Optical Coherence Tomography. Cornea. 2024 Dec 11;44(9):1127-1135. doi: 10.1097/ICO.0000000000003771.
PubMed 39661178Dorado-Cortez O, Crouzet E, Trone MC, Gain P, He Z, Vaitinadapoule H, Mentek M, Mascarelli F, Poinard S, Yasunaga M, Nishiuchi G, Koizumi N, Okumura N, Thuret G. Change in Visual Acuity of Patients With Fuchs Endothelial Corneal Dystrophy Over 1 Year. Cornea. 2024 Oct 1;43(10):1207-1215. doi: 10.1097/ICO.0000000000003590. Epub 2024 Jul 9.
PubMed 39288343
Study at a glance
From the registry record, last updated by the sponsor on 18 Apr 2023. 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, F3S
- ClinicalTrials.gov ID
- NCT03974230
- Acronym / sponsor ID
- F3S / 18CH199
- Conditions
- Fuchs Endothelial Corneal Dystrophy
- Keywords
- Cornea, Fuchs Endothelial Corneal Dystrophy (FECD), slit lamp, Transcription Factor 4 (TCF4), chromosome 18, genetic
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 208 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de Saint EtienneUniversity, hospital or other
- Collaborators
- Kyoto University, Graduate School of Medicine
- Study start
- 1 Aug 2019 (actual)
- Primary completion
- 10 Nov 2020 (actual)
- Study completion
- 14 Dec 2021 (actual)
- First posted
- 4 Jun 2019 (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. 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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with Fuchs Endothelial Corneal Dystrophy (FECD) | – | Other: Collection of datas, Biological: blood samplePatients with Fuchs Endothelial Corneal Dystrophy (FECD). They will have a collection of datas and a blood sample. |
| Control group | – | Biological: blood sample, Other: slit lamp examinationWitness will be included in control group. They will have a blood sample and slit lamp examination. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- There are 2 cohorts: patient and control.
Key inclusion criteria (9 listed)
- >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
- >18 years old
Key exclusion criteria (10 listed)
- 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)
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 |
|---|---|---|
| Collection of datasCollection of datas of examination for diagnosis and follow-up of the Fuchs Endothelial Corneal Dystrophy (FECD) including slit lamp results will be performed. | Other | Patients with Fuchs Endothelial Corneal Dystrophy (FECD) |
| blood sampleBlood sample will be performed (genetic analyses). | Biological | Control group, Patients with Fuchs Endothelial Corneal Dystrophy (FECD) |
| slit lamp examinationSlit lamp examination will be performed. | Other | Control group |
Primary outcome
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.
8 secondary outcomes
CTG triplet repetitions in the intron of the Transcription Factor 4 (TCF4) gene
Time frame: Year: 0 and 1
Mutation rs613872
Time frame: Year: 0 and 1
Other mutation
Time frame: Year: 0 and 1
Refraction with the auto-refractor tonometry
Time frame: Year: 0 and 1
ETDRS scale (Early Treatment Diabetic Retinopathy Study scale) in a controlled glare situation
Time frame: Year: 0 and 1
interferometry, tear meniscus height, Non Invasive Break-Up Time (NIBUT) and meibography
Time frame: Year: 0 and 1
Corneal thickness in Optical Coherence Tomography (OCT)
Time frame: Year: 0 and 1
Reflectivity results measure by Optical Coherence Tomography (OCT)
Time frame: Year: 0 and 1
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Apr 2023.
- Derived from this study: PubMed 39661178Dorado Cortez O, Fleischmann Caruso D, Crouzet E, Poinard S, Trone MC, Gain P, Okumura N, Koizumi N, Thuret G. Assessing Corneal Tomographic Changes in Fuchs Endothelial Corneal Dystrophy Over 1 Year: Scheimpflug Versus Anterior Segment Optical Coherence Tomography. Cornea. 2024 Dec 11;44(9):1127-1135. doi: 10.1097/ICO.0000000000003771.
- Derived from this study: PubMed 39288343Dorado-Cortez O, Crouzet E, Trone MC, Gain P, He Z, Vaitinadapoule H, Mentek M, Mascarelli F, Poinard S, Yasunaga M, Nishiuchi G, Koizumi N, Okumura N, Thuret G. Change in Visual Acuity of Patients With Fuchs Endothelial Corneal Dystrophy Over 1 Year. Cornea. 2024 Oct 1;43(10):1207-1215. doi: 10.1097/ICO.0000000000003590. Epub 2024 Jul 9.
- 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. This study is not recruiting at the moment.
Gilles THURET, MD PhD principal investigator
Centre Hospitalier Universitaire 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 Fuchs Endothelial Corneal Dystrophy, 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 9 inclusion and 10 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: finished, as of the sponsor's last update on 18 Apr 2023. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Visual acuity (time frame: Year: 0 and 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03974230, which also lists 2 linked publications.
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 18 Apr 2023.