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NCT Number: NCT06881771

FECD-TRACE: Fuchs' Endothelial Corneal Dystrophy TRAjectory and Correlation With Genotype in the United Kingdom

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.

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Key information

Conditions

Fuchs Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Corneal Diseases Corneal Dystrophies, Hereditary Corneal Dystrophy Corneal Dystrophy Fuchs Corneal Dystrophy, Posterior Polymorphous, 1 Eye Diseases Eye Diseases, Hereditary Fuchs' Endothelial Corneal Dystrophy of Bilateral Eyes Fuchs' Endothelial Dystrophy Genetic Diseases, Inborn

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University College London

London, EC1V 9EL, United Kingdom

Location status: Recruiting

Location contact

Siyin Liu

CONTACT

+4420 7608 6800

Siyin Liu, MBChB

PRINCIPAL_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Clinical phenotyping

Diagnostic 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 Genotyping

Genetic

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

Primary outcomes

  1. Endothelial cell density measurement (cells/mm2)

    Time frame: Baseline

    Specular Microscopy - Endothelial cell density.

  2. CTG18.1 allele length (in number)

    Time frame: Baseline

    Polymerase Chain Reaction (PCR) will be performed from DNA (blood sample)

  3. Detection of guttata (cells/mm2)

    Time frame: Baseline

    In Vivo Confocal Microscopy (IVCM) - Detection of guttata

  4. Corneal thickness (in micrometers)

    Time frame: Baseline

    Anterior Segment Optical Coherence Tomography (AS-OCT) - Corneal thickness

  5. Documentation of early corneal guttata development (Binary)

    Time frame: Baseline

    Slit-Lamp Photography - Documentation of early corneal guttata development.

  6. Best-corrected visual acuity in LogMAR scale

    Time frame: Baseline

    Visual acuity measured by LogMAR chart

  7. Corneal nerve density (nerves/mm2)

    Time frame: Baseline

    In Vivo Confocal Microscopy (IVCM) - Detection of nerves

Study contacts

Contact information is provided by the study sponsor or research team.

Siyin Liu, MBChB

CONTACT

[email protected]

+44207 253 3411 ext. 4454

Sponsors and collaborators

Lead sponsor

University College, London

Other

Registry information

Official study title

Investigating Genetic Causes and Molecular Mechanisms Responsible for Inherited Corneal Disease

Acronym: FECD-TRACE

Important dates

Study start
2024
Primary completion
2026
Study completion
2027
First posted
Mar 18, 2025
Registry last updated
Mar 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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