FECD-TRACE: Fuchs' Endothelial Corneal Dystrophy TRAjectory and Correlation With Genotype in the United Kingdom
Investigating Genetic Causes and Molecular Mechanisms Responsible for Inherited Corneal Disease
University College, London
500 participants
Feb 1, 2024
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria4
- 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 Criteria5
- 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
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Interventions
* 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
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT06881771