Fuchs DystrophyFECD-TRACENCT06881771
FECD-TRACE: Fuchs' Endothelial Corneal Dystrophy TRAjectory and Correlation With Genotype in the United Kingdom
An observational study of Fuchs Dystrophy and Fuchs' Endothelial Dystrophy, run by University College, London at 1 site in United Kingdom.
Trial summary
FECD-TRACE is an integral component of a large research program dedicated to Fuchs Endothelial Corneal Dystrophy (FECD) in the United Kingdom. This longitudinal, observational study aims to comprehensively characterize a cohort of younger research participants who have a genetic predisposition to developing FECD. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fuchs Dystrophy, Fuchs' Endothelial Dystrophy, Fuchs' Endothelial Corneal Dystrophy of Bilateral Eyes
- What is being tested?
- Clinical phenotyping and CTG18.1 Expansion Status Genotyping
- How many people
- 500 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 1 Feb 2024to 1 Feb 2027
- 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: Participants meeting the recruitment criteria across multiple sites will be enrolled
Who may be able to join
- Willing and able to provide informed consent for participation in the study
- Willing to attend scheduled study visits and undergo a clinical examination
- Willing to donate blood/saliva samples
- Fulfil the abovementioned cohort criteria
Who cannot join
- Presence of a secondary cause for corneal endothelial dysfunction or oedema
- Presence of clinically evident corneal oedema
- History of concurrent corneal diseases
- History of corneal surgeries, including corneal transplantation
- Cognitive impairment or inability to provide informed consent for participation in the study
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom1 site, 1 recruiting
- Recruiting
University College London
London, EC1V 9EL
Siyin Liu, +4420 7608 6800
Siyin Liu, MBChB
About this study
Official title: Investigating Genetic Causes and Molecular Mechanisms Responsible for Inherited Corneal Disease
FECD-TRACE is an integral component of a large research program dedicated to Fuchs Endothelial Corneal Dystrophy (FECD) in the United Kingdom. This longitudinal, observational study aims to comprehensively characterize a cohort of younger research participants who have a genetic predisposition to developing FECD. By utilizing advanced anterior segment imaging techniques, the study will monitor these individuals over a span of several years, capturing phenotypic changes that reflect the progression of the disease. Concurrently, genetic biomarkers will be examined to establish correlations with the observed phenotypic changes. The primary objective of FECD-TRACE is to enhance our understanding of the intricate genetic mechanisms underlying FECD and establish connections between these genetic findings and clinical outcomes. Ultimately, this research strives to facilitate the development of personalized care approaches for individuals affected by FECD.
Read the detailed description
FECD is the most prevalent repeat expansion disease in humans. Clinical anticipation and intergenerational expansion of disease-associated repeats are features of other repeat expansion diseases, but this area has not been comprehensively addressed in FECD. Due to its insidious onset and slow disease progression, early diagnosis of FECD in pre-symptomatic patients is challenging.
To gain insights into the variable penetrance of FECD and to identify early signs of the disease in genetically predisposed but asymptomatic individuals (i.e., a pre-symptomatic cohort), we aim to recruit biological relatives of FECD patients receiving care at study sites, as well as individuals with early-stage disease. By combining genotyping and clinical phenotyping, we seek to elucidate the underlying factors influencing disease manifestation.
Our deep phenotyping approach encompasses an array of advanced imaging techniques such as visual acuity assessment, contrast sensitivity evaluation, slit-lamp photography, specular microscopy, Scheimpflug tomography, and anterior segment optical coherence tomography. These cutting-edge modalities enable the detection of subclinical corneal edema by revealing subtle changes in corneal shape, volume, and reflectivity at a high resolution.
The imaging data obtained from participants will undergo meticulous quantitative analysis, allowing for the classification of anterior segment features and extraction of image-derived phenotypes. To capture the dynamic nature of FECD, eligible participants will be invited for follow-up examinations, facilitating a longitudinal assessment of disease progression.
- Conditions
- Fuchs Dystrophy, Fuchs' Endothelial Dystrophy, Fuchs' Endothelial Corneal Dystrophy of Bilateral Eyes, Corneal Dystrophy Fuchs, Corneal Dystrophy
- Being tested
- Clinical phenotyping, CTG18.1 Expansion Status Genotyping
- Keywords
- Fuchs' Corneal Endothelial Dystrophy, FECD, Corneal Dystrophies, Corneal Endothelial Dystrophy
- Medical subject headings
- Fuchs' Endothelial Dystrophy, Corneal Dystrophies, Hereditary, Corneal Dystrophy, Posterior Polymorphous, 1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Clinical phenotypingDiagnostic test
- Visual acuity assessment
- Contrast sensitivity evaluation
- Slit-lamp photography
- Specular microscopy
- Scheimpflug tomography
- Anterior segment optical coherence tomography
- In vivo confocal microscopy
- Spatio-temporal optical coherence tomography
CTG18.1 Expansion Status GenotypingGenetic
Genotyping for trinucleotide repeat in the TCF4 gene (CTG18.1) and other genetic biomarkers using blood or saliva derived genomic DNA. This includes:
- Short tandem repeat - PCR
- Triplet-repeat primed - PCR
- Genome-wide single nucleotide polymorphism genotyping
- Ultra-deep locus-specific next-generation sequencing
| Study group | Role | What they receive |
|---|---|---|
| Pre-symptomatic FECD cohort | 1. Have at least one biological first-degree relative with a confirmed diagnosis of FECD AND have TCF4 gene CTG18.1 expansion ≥ 50 repeats OR
2. Confirmed diagnosis of FECD by a qualified ophthalmologist but does not have clinically evident corneal oedema Receives: Diagnostic Test: Clinical phenotyping; Genetic: CTG18.1 Expansion Status Genotyping | |
| Control cohort | 1. Have no known family history nor clinical features of FECD OR
2. Have known family history of FECD but have been tested for the TCF4 gene CTG18.1 expansion and are not at genetic risk for FECD (CTG < 50 repeats). Receives: Diagnostic Test: Clinical phenotyping; Genetic: CTG18.1 Expansion Status Genotyping |
What is being measured
The primary outcome is the main question the study is designed to answer.
Endothelial cell density measurement (cells/mm2)
Specular Microscopy - Endothelial cell density.
Measured: Baseline
CTG18.1 allele length (in number)
Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)
Measured: Baseline
Detection of guttata (cells/mm2)
In Vivo Confocal Microscopy (IVCM) - Detection of guttata
Measured: Baseline
Corneal thickness (in micrometers)
Anterior Segment Optical Coherence Tomography (AS-OCT) - Corneal thickness
Measured: Baseline
Documentation of early corneal guttata development (Binary)
Slit-Lamp Photography - Documentation of early corneal guttata development.
Measured: Baseline
Best-corrected visual acuity in LogMAR scale
Visual acuity measured by LogMAR chart
Measured: Baseline
Corneal nerve density (nerves/mm2)
In Vivo Confocal Microscopy (IVCM) - Detection of nerves
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Mar 2025
- Study start1 Feb 2024
- Primary completion1 Feb 2026 (estimated)
- Study completion1 Feb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fuchs DystrophyStudies of the same condition, open and under way.
- More trials run by University College, LondonThe 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
- Lead sponsor
- University College, London
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Alice Davidson, PhD, Principal investigator, University College, London
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06881771
- Sponsor's protocol ID
- 145682
- Acronym
- FECD-TRACE
- Status last verified
- Mar 2025
- First submitted
- 28 Feb 2025
- Last updated
- 18 Mar 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 18 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigating Genetic Causes and Molecular Mechanisms Responsible for Inherited Corneal Disease
- ClinicalTrials.gov ID
- NCT06881771
- Acronym / sponsor ID
- FECD-TRACE / 145682
- Conditions
- Fuchs Dystrophy, Fuchs' Endothelial Dystrophy, Fuchs' Endothelial Corneal Dystrophy of Bilateral Eyes, Corneal Dystrophy Fuchs, Corneal Dystrophy
- Keywords
- Fuchs' Corneal Endothelial Dystrophy, FECD, Corneal Dystrophies, Corneal Endothelial Dystrophy
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- University College, LondonUniversity, hospital or other
- Study start
- 1 Feb 2024 (actual)
- Primary completion
- 1 Feb 2026 (estimated)
- Study completion
- 1 Feb 2027 (estimated)
- First posted
- 18 Mar 2025 (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.
FECD-TRACE is an integral component of a large research program dedicated to Fuchs Endothelial Corneal Dystrophy (FECD) in the United Kingdom. This longitudinal, observational study aims to comprehensively characterize a cohort of younger research participants who have a genetic predisposition to developing FECD. By utilizing advanced anterior segment imaging techniques, the study will monitor these individuals over a span of several years, capturing phenotypic changes that reflect the progression of the disease. Concurrently, genetic biomarkers will be examined to establish correlations with the observed phenotypic changes. The primary objective of FECD-TRACE is to enhance our understanding of the intricate genetic mechanisms underlying FECD and establish connections between these genetic findings and clinical outcomes. Ultimately, this research strives to facilitate the development of personalized care approaches for individuals affected by FECD.
Detailed description
FECD is the most prevalent repeat expansion disease in humans. Clinical anticipation and intergenerational expansion of disease-associated repeats are features of other repeat expansion diseases, but this area has not been comprehensively addressed in FECD. Due to its insidious onset and slow disease progression, early diagnosis of FECD in pre-symptomatic patients is challenging.
To gain insights into the variable penetrance of FECD and to identify early signs of the disease in genetically predisposed but asymptomatic individuals (i.e., a pre-symptomatic cohort), we aim to recruit biological relatives of FECD patients receiving care at study sites, as well as individuals with early-stage disease. By combining genotyping and clinical phenotyping, we seek to elucidate the underlying factors influencing disease manifestation.
Our deep phenotyping approach encompasses an array of advanced imaging techniques such as visual acuity assessment, contrast sensitivity evaluation, slit-lamp photography, specular microscopy, Scheimpflug tomography, and anterior segment optical coherence tomography. These cutting-edge modalities enable the detection of subclinical corneal edema by revealing subtle changes in corneal shape, volume, and reflectivity at a high resolution.
The imaging data obtained from participants will undergo meticulous quantitative analysis, allowing for the classification of anterior segment features and extraction of image-derived phenotypes. To capture the dynamic nature of FECD, eligible participants will be invited for follow-up examinations, facilitating a longitudinal assessment of disease progression.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Pre-symptomatic FECD cohort | – | Diagnostic Test: Clinical phenotyping, Genetic: CTG18.1 Expansion Status Genotyping1. Have at least one biological first-degree relative with a confirmed diagnosis of FECD AND have TCF4 gene CTG18.1 expansion ≥ 50 repeats OR 2. Confirmed diagnosis of FECD by a qualified ophthalmologist but does not have clinically evident corneal oedema |
| Control cohort | – | Diagnostic Test: Clinical phenotyping, Genetic: CTG18.1 Expansion Status Genotyping1. Have no known family history nor clinical features of FECD OR 2. Have known family history of FECD but have been tested for the TCF4 gene CTG18.1 expansion and are not at genetic risk for FECD (CTG < 50 repeats). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants meeting the recruitment criteria across multiple sites will be enrolled
Key inclusion criteria (4 listed)
- Willing and able to provide informed consent for participation in the study
- Willing to attend scheduled study visits and undergo a clinical examination
- Willing to donate blood/saliva samples
- Fulfil the abovementioned cohort criteria
Key exclusion criteria (5 listed)
- Presence of a secondary cause for corneal endothelial dysfunction or oedema
- Presence of clinically evident corneal oedema
- History of concurrent corneal diseases
- History of corneal surgeries, including corneal transplantation
- Cognitive impairment or inability to provide informed consent for participation in the study
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 |
|---|---|---|
| Clinical phenotyping* Visual acuity assessment * Contrast sensitivity evaluation * Slit-lamp photography * Specular microscopy * Scheimpflug tomography * Anterior segment optical coherence tomography * In vivo confocal microscopy * Spatio-temporal optical coherence tomography | Diagnostic test | Control cohort, Pre-symptomatic FECD cohort |
| CTG18.1 Expansion Status GenotypingGenotyping for trinucleotide repeat in the TCF4 gene (CTG18.1) and other genetic biomarkers using blood or saliva derived genomic DNA. This includes: * Short tandem repeat - PCR * Triplet-repeat primed - PCR * Genome-wide single nucleotide polymorphism genotyping * Ultra-deep locus-specific next-generation sequencing | Genetic | Control cohort, Pre-symptomatic FECD cohort |
Primary outcome
Endothelial cell density measurement (cells/mm2)
Time frame: Baseline
Specular Microscopy - Endothelial cell density.
CTG18.1 allele length (in number)
Time frame: Baseline
Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)
Detection of guttata (cells/mm2)
Time frame: Baseline
In Vivo Confocal Microscopy (IVCM) - Detection of guttata
Corneal thickness (in micrometers)
Time frame: Baseline
Anterior Segment Optical Coherence Tomography (AS-OCT) - Corneal thickness
Documentation of early corneal guttata development (Binary)
Time frame: Baseline
Slit-Lamp Photography - Documentation of early corneal guttata development.
Best-corrected visual acuity in LogMAR scale
Time frame: Baseline
Visual acuity measured by LogMAR chart
Corneal nerve density (nerves/mm2)
Time frame: Baseline
In Vivo Confocal Microscopy (IVCM) - Detection of nerves
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 18 Mar 2025.
- Individual participant dataSharing planned: Undecided
Related trials for Fuchs Dystrophy
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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.
Alice Davidson, PhD principal investigator
University College, London
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 Dystrophy and Fuchs' Endothelial Dystrophy, run by University College, London at 1 site in United Kingdom.
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 5 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 18 Mar 2025. 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 United Kingdom. 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 Siyin Liu, MBChB (+44207 253 3411 ext. 4454, siyin.liu@ucl.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Endothelial cell density measurement (cells/mm2) (time frame: Baseline). The study lists 7 primary outcomes in all. 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 18 Mar 2025.