Investigating the Genetic Basis of Pseudoexfoliation Syndrome, Angle-closure Glaucoma and Primary Open-angle Glaucoma

NCT03423758 | Recruiting

• 1 other identifier: OPHT-271016
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

There is increasing evidence that there are genetic risk factors for several forms of glaucoma, such as glaucoma caused by pseudoexfoliation syndrome (PXF) ,primary angle closure glaucoma (PACG) and primary open-angle glaucoma (POAG). The aim of the present prospective, multi-center, case-control study is to identify susceptibility genes/loci for PXF, PACG and POAG using a whole genome association (WGA) approach.

Conditions

Glaucoma

Keywords

Pseudoexfoliation Glaucoma, Angle block glaucoma, Primary Open-Angle Glaucoma, Genetic

Outcome Measures

Primary Outcomes (1)

• Genetic markers

  To identify the genetic markers in a whole genome association screen which show very strong association with PXF, ACG and POAG. The genomic regions identified from the above analyses will be analyzed using high density single nucleotide polymorphism (SNP) chips and/or sequencing of positional candidate genes to identify causal variants.

  1 day

Study Arms (4)

Healthy controls

Healthy subjects with age more than 60 years

Other: Blood sample

Pseudoexfoliation Glaucoma

Already diagnosed Pseudoexfoliation glaucoma patients with age more than 50 years

Other: Blood sample

Angle closure Glaucoma

Already diagnosed Angle closure Glaucoma patients with age more than 21 years

Other: Blood sample

Primary open-angle Glaucoma

Already diagnosed primary open-angle glaucoma with age more than 30 years

Other: Blood sample

Interventions

Blood sample OTHER

Blood sample

Angle closure Glaucoma; Healthy controls; Primary open-angle Glaucoma; Pseudoexfoliation Glaucoma

Eligibility Criteria

• Age: 21 Years - 105 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

1. Normal Healthy group 2. Patients with Pseudoexfoliation Glaucoma 3. Patients with Angle closure Glaucoma 4. Patients with Primary open-angle Glaucoma

You may qualify if:

• For patients with PXF:
• Patients with confirmed pseudoexfoliation syndrome (exfoliation glaucoma / pseudoexfoliation of the lens) in the medical history
• Informed consent
• Age 50 years or more
• For patients with PACG:
• Patients with confirmed acute primary angle closure (PAC) or primary angle closure glaucoma (PACG) in the medical history
• Informed consent
• Age 21 years or more
• For healthy controls:
• No evidence of PXF, glaucoma or uveitis during clinical examination or in the medical history
• No evidence of major ocular disease such as diabetic retinopathy, age related macular degeneration or conditions with genetic background during clinical examination or in the medical history
• Age more than 60 years
• Informed consent
• For patients with POAG:
• Patients with confirmed primary open angle glaucoma (POAG)

You may not qualify if:

• Patients and subjects will be excluded if one or more of the following criteria apply:
• Neovascular glaucoma
• Active or history of uveitis
• Secondary angle closure such as neovascular glaucoma or uveitis/inflammatory eye disease
• Inability to give informed consent

Sponsors & Collaborators

• Medical University of Vienna: lead

Study Sites (1)

Department of Clinical Pharmacology, Medical University of Vienna

Vienna, 1090, Austria

RECRUITING

MeSH Terms

Conditions

Glaucoma; Exfoliation Syndrome; Glaucoma, Open-Angle

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Ocular Hypertension; Eye Diseases; Iris Diseases; Uveal Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Gerhard Garhöfer

  Medical University of Vienna

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Gerhard Garhöfer

CONTACT

0140 400 29880; gerhard.garhoefer@meduniwien.ac.at

Doreen Schmidl

CONTACT

0140 400 29880; doreen.schmidl@meduniwien.ac.at

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assoc. Prof. PD Dr.

Study Record Dates

• First Submitted: January 8, 2018
• First Posted: February 6, 2018
• Study Start: May 30, 2017
• Primary Completion: January 30, 2026
• Study Completion: January 30, 2026
• Last Updated: May 23, 2025

Record last verified: 2025-04

Locations

AU (1)