Investigating Genetic Causes and Molecular Mechanisms Responsible for Inherited Corneal Disease

Status: Recruiting
Location: See location...
Intervention Type: Genetic, Diagnostic test
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
United Kingdom
University College London
RECRUITING
London
Contact Information
Primary
Siyin Liu, MBChB
siyin.liu@ucl.ac.uk
+44207 253 3411
Time Frame
Start Date: 2024-02-01
Estimated Completion Date: 2027-02-01
Participants
Target number of participants: 500
Treatments
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
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).
Related Therapeutic Areas
Sponsors
Leads: University College, London

This content was sourced from clinicaltrials.gov

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