500
Participants
Start Date
February 1, 2024
Primary Completion Date
February 1, 2026
Study Completion Date
February 1, 2027
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"
RECRUITING
University College London, London
University College, London
OTHER