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FECD-TRACE: Fuchs' Endothelial Corneal Dystrophy TRAjectory and Correlation With Genotype in the United Kingdom
Sponsor: University College, London
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.
Official title: Investigating Genetic Causes and Molecular Mechanisms Responsible for Inherited Corneal Disease
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
500
Start Date
2024-02-01
Completion Date
2027-02-01
Last Updated
2025-03-18
Healthy Volunteers
No
Conditions
Interventions
Clinical phenotyping
* 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
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)
University College London
London, United Kingdom