FECD-TRACE: Fuchs' Endothelial Corneal Dystrophy TRAjectory and Correlation With Genotype in the United Kingdom (FECD-TRACE)
Investigating Genetic Causes and Molecular Mechanisms Responsible for Inherited Corneal Disease
Study Overview
Status
Conditions
Intervention / Treatment
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 Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Siyin Liu, MBChB
- Phone Number: 4454 +44207 253 3411
- Email: siyin.liu@ucl.ac.uk
Study Locations
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-
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London, United Kingdom, EC1V 9EL
- Recruiting
- University College London
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Contact:
- Siyin Liu
- Phone Number: +4420 7608 6800
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Principal Investigator:
- Siyin Liu, MBChB
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- 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
Exclusion Criteria:
- 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
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
|---|---|
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Pre-symptomatic FECD cohort
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Genotyping for trinucleotide repeat in the TCF4 gene (CTG18.1) and other genetic biomarkers using blood or saliva derived genomic DNA. This includes:
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Control cohort
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Genotyping for trinucleotide repeat in the TCF4 gene (CTG18.1) and other genetic biomarkers using blood or saliva derived genomic DNA. This includes:
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Endothelial cell density measurement (cells/mm2)
Time Frame: Baseline
|
Specular Microscopy - Endothelial cell density.
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Baseline
|
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CTG18.1 allele length (in number)
Time Frame: Baseline
|
Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)
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Baseline
|
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Detection of guttata (cells/mm2)
Time Frame: Baseline
|
In Vivo Confocal Microscopy (IVCM) - Detection of guttata
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Baseline
|
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Corneal thickness (in micrometers)
Time Frame: Baseline
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Anterior Segment Optical Coherence Tomography (AS-OCT) - Corneal thickness
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Baseline
|
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Documentation of early corneal guttata development (Binary)
Time Frame: Baseline
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Slit-Lamp Photography - Documentation of early corneal guttata development.
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Baseline
|
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Best-corrected visual acuity in LogMAR scale
Time Frame: Baseline
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Visual acuity measured by LogMAR chart
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Baseline
|
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Corneal nerve density (nerves/mm2)
Time Frame: Baseline
|
In Vivo Confocal Microscopy (IVCM) - Detection of nerves
|
Baseline
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Alice Davidson, PhD, University College, London
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 145682
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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