An observational study in Fuchs Dystrophy, Fuchs' Endothelial Dystrophy and Fuchs' Endothelial Corneal Dystrophy of Bilateral Eyes, sponsored by University College, London. Recruiting at 1 site in United Kingdom. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-03-18.
Sponsored by University College, London · Observational
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.
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.
92 studies on the registry are indexed under Fuchs' Endothelial Dystrophy; 27 are open to participants now.
This study's planned enrollment of 500 is above the median of 144 across 26 observational studies indexed under Fuchs' Endothelial Dystrophy.
Browse Fuchs' Endothelial Dystrophy studies →University College, London is the lead sponsor of 651 studies on the registry; 149 are open to participants now.
Of its 6 completed or terminated interventional studies of FDA-regulated products, 2 (33%) have results posted.
Counted across the registry records on this site, refreshed daily.
Participants meeting the recruitment criteria across multiple sites will be enrolled
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.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
Diagnostic Test: Clinical phenotyping · Genetic: CTG18.1 Expansion Status Genotyping
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).
Diagnostic Test: Clinical phenotyping · Genetic: CTG18.1 Expansion Status Genotyping
* 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
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
Endothelial cell density measurement (cells/mm2)
Specular Microscopy - Endothelial cell density.
Time frame: Baseline
CTG18.1 allele length (in number)
Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)
Time frame: Baseline
Detection of guttata (cells/mm2)
In Vivo Confocal Microscopy (IVCM) - Detection of guttata
Time frame: Baseline
Corneal thickness (in micrometers)
Anterior Segment Optical Coherence Tomography (AS-OCT) - Corneal thickness
Time frame: Baseline
Documentation of early corneal guttata development (Binary)
Slit-Lamp Photography - Documentation of early corneal guttata development.
Time frame: Baseline
Best-corrected visual acuity in LogMAR scale
Visual acuity measured by LogMAR chart
Time frame: Baseline
Corneal nerve density (nerves/mm2)
In Vivo Confocal Microscopy (IVCM) - Detection of nerves
Time frame: Baseline
Plan to share: Undecided
No publications or documents are linked to this record.
Started Feb 2024 (actual). Primary completion is estimated for Feb 2026, 24 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet 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 →