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

NCT06881771 | Recruiting

• 1 other identifier: 145682
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief 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. 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.

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

Outcome Measures

Primary Outcomes (7)

• Endothelial cell density measurement (cells/mm2)

  Specular Microscopy - Endothelial cell density.

  Baseline

• CTG18.1 allele length (in number)

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

  Baseline

• Detection of guttata (cells/mm2)

  In Vivo Confocal Microscopy (IVCM) - Detection of guttata

  Baseline

• Corneal thickness (in micrometers)

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

  Baseline

• Documentation of early corneal guttata development (Binary)

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

  Baseline

• Best-corrected visual acuity in LogMAR scale

  Visual acuity measured by LogMAR chart

  Baseline

• Corneal nerve density (nerves/mm2)

  In Vivo Confocal Microscopy (IVCM) - Detection of nerves

  Baseline

Study Arms (2)

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

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).

Diagnostic Test: Clinical phenotyping; Genetic: CTG18.1 Expansion Status Genotyping

Interventions

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

Control cohort; Pre-symptomatic FECD cohort

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

Control cohort; Pre-symptomatic FECD cohort

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants meeting the recruitment criteria across multiple sites will be enrolled

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University College, London: lead

Study Sites (1)

University College London

London, EC1V 9EL, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood-derived genomic DNA

MeSH Terms

Conditions

Fuchs' Endothelial Dystrophy; Corneal Dystrophies, Hereditary; Corneal Dystrophy, Posterior Polymorphous, 1

Condition Hierarchy (Ancestors)

Corneal Diseases; Eye Diseases; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Alice Davidson, PhD

  University College, London

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Siyin Liu, MBChB

CONTACT

+44207 253 3411; siyin.liu@ucl.ac.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 28, 2025
• First Posted: March 18, 2025
• Study Start: February 1, 2024
• Primary Completion: February 1, 2026
• Study Completion (Estimated): February 1, 2027
• Last Updated: March 18, 2025

Record last verified: 2025-03

Locations

GB (1)