The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy

NCT01795001 | Completed

• 1 other identifier: S55133
• Study Type: observational
• Target: 460
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is to gain further insights into the molecular pathogenesis of Fuchs' endothelial corneal dystrophy (FECD), to identify targets for potential specific drug therapy.

Conditions

Fuchs' Endothelial Dystrophy

Keywords

pathophysiology

Outcome Measures

Primary Outcomes (3)

• cytokine levels

  dosage of cytokine levels in aqueous humour (exploratory, non-interventional study)

  at time of prelevation (once, no intervention)

• gene expression levels

  microarray expression analysis, reverse transcriptase - quantitative polymerase chain reaction (RT-qPCR), RNA-sequencing (exploratory, non-interventional study)

  at time of prelevation (once, no intervention)

• protein content

  immunohistochemistry and immunofluorescence

  at time of prelevation (once, no intervention)

Study Arms (3)

late-onset FECD

tissue samples from patients with late-onset Fuchs' endothelial corneal dystrophy (FECD)

Other: No intervention

normal control

tissue samples from patients with normal corneas

Other: No intervention

non-FECD edematous control

tissue samples from patients with corneal edema but without FECD

Other: No intervention

Interventions

No intervention OTHER

late-onset FECD; non-FECD edematous control; normal control

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with Fuchs' Endothelial Corneal Dystrophy (FECD), normal control patients, and patients with non-Fuchs edematous corneas; in university hospital setting.

You may qualify if:

• FECD
• normal corneas (including enucleations for uveal melanoma)
• non-FECD oedematous corneas

You may not qualify if:

• prior irradiation therapy for uveal melanoma
• corneal extension of uveal melanoma

Sponsors & Collaborators

• Universitaire Ziekenhuizen KU Leuven: lead
• Fund for Scientific Research, Flanders, Belgium: collaborator
• Funds for Research in Ophthalmology, Belgium: collaborator
• Mieke Perdaens fund for Eye Research: collaborator

Study Sites (1)

Department of Translational Cell and Tissue Research - campus Sint-Raf - UZ Leuven

Leuven, 3000, Belgium

Location

Biospecimen

Retention: SAMPLES WITH DNA

Non-interventional study on corneal endothelium, anterior eye chamber fluid and paraffin-embedded corneal tissue, using molecular techniques to identify and characterise the molecular players involved in the pathogenesis of FECD.

MeSH Terms

Conditions

Fuchs' Endothelial Dystrophy

Condition Hierarchy (Ancestors)

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

Study Officials

• Joost J van den Oord, MD, PhD

  KU Leuven

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: January 30, 2013
• First Posted: February 20, 2013
• Study Start: October 1, 2012
• Primary Completion: September 13, 2017
• Study Completion: September 13, 2017
• Last Updated: May 24, 2018

Record last verified: 2018-05

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: Data already available.

Locations

BE (1)