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Investigating the Genetic Basis of Pseudoexfoliation Syndrome and Angle-closure Glaucoma

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ClinicalTrials.gov Identifier: NCT03423758
Recruitment Status : Recruiting
First Posted : February 6, 2018
Last Update Posted : February 6, 2018
Sponsor:
Information provided by (Responsible Party):
Gerhard Garhofer, Medical University of Vienna

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) and primary angle closure glaucoma (PACG). The aim of the present prospective, multi-center, case-control study is to identify susceptibility genes/loci for PXF and PACG using a whole genome association (WGA) approach.

Condition or disease Intervention/treatment
Glaucoma Other: Blood sample

Detailed Description:

As worldwide populations become older because of shifts in demography, PXF may become a matter of greater concern. The search for genes responsible for PXF may lead to the identification of key molecules in pathways critical to the normal functioning of the eye. A better understanding of normal eye function may in turn lead to more accurate diagnosis and prognosis of ocular development, and inevitably to the emergence of novel classifications based on knowledge of the molecular pathology. Such knowledge may lead to more rational disease classification, better diagnostic tests, and improved prognostic accuracy. This is of particular relevance to PXF since there is a shortage of early reliable diagnostic tests and much evidence that the early commencement of treatment can arrest progressive asymptomatic loss of vision due to PXF-related glaucoma.

The search for genes responsible for PACG may lead to the identification of key molecules in pathways critical to the normal development of the eye. A better understanding of eye development may in turn lead to more accurate diagnosis and prognosis of ocular development, and inevitably to the emergence of novel classifications based on knowledge of the molecular pathology. Such knowledge may lead to more rational disease classification, better diagnostic tests, and improved prognostic accuracy. This is of particular relevance to glaucoma since there is a shortage of early reliable diagnostic tests and much evidence that the early commencement of treatment can arrest progressive asymptomatic loss of vision for which the disease is renowned.


Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigating the Genetic Basis of Pseudoexfoliation Syndrome and Angle-closure Glaucoma
Actual Study Start Date : May 30, 2017
Estimated Primary Completion Date : May 30, 2019
Estimated Study Completion Date : December 30, 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Glaucoma

Group/Cohort Intervention/treatment
Healthy controls
Healthy subjects with age more than 60 years
Other: Blood sample
Blood sample

Pseudoexfoliation Glaucoma
Already diagnosed Pseudoexfoliation glaucoma patients with age more than 50 years
Other: Blood sample
Blood sample

Angle closure Glaucoma
Already diagnosed Angle closure Glaucoma patients with age more than 21 years
Other: Blood sample
Blood sample




Primary Outcome Measures :
  1. Genetic markers [ Time Frame: 1 day ]
    To identify the genetic markers in a whole genome association screen which show very strong association with PXF and ACG. 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.



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Ages Eligible for Study:   21 Years to 105 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
  1. Normal Healthy group
  2. Patients with Pseudoexfoliation Glaucoma
  3. Patients with Angle closure Glaucoma
Criteria

Inclusion Criteria:

  1. 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
  2. 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
  3. 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

Exclusion Criteria:

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03423758


Contacts
Contact: Gerhard Garhöfer 0140 400 29880 gerhard.garhoefer@meduniwien.ac.at
Contact: Doreen Schmidl 0140 400 29880 doreen.schmidl@meduniwien.ac.at

Locations
Austria
Department of Clinical Pharmacology, Medical University of Vienna Recruiting
Vienna, Austria, 1090
Contact: Gerhard Garhofer, MD    00431 40400 ext 29810    gerhard.garhoefer@meduniwien.ac.at   
Contact: Doreen Schmidl, MD    00431 40400 ext 29880    doreen.schmidl@meduniwien.ac.at   
Sponsors and Collaborators
Medical University of Vienna
Investigators
Principal Investigator: Gerhard Garhöfer Medical University of Vienna

Responsible Party: Gerhard Garhofer, Assoc. Prof. PD Dr., Medical University of Vienna
ClinicalTrials.gov Identifier: NCT03423758     History of Changes
Other Study ID Numbers: OPHT-271016
First Posted: February 6, 2018    Key Record Dates
Last Update Posted: February 6, 2018
Last Verified: February 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Gerhard Garhofer, Medical University of Vienna:
Pseudoexfoliation Glaucoma, Angle block glaucoma, Genetic

Additional relevant MeSH terms:
Glaucoma
Glaucoma, Angle-Closure
Exfoliation Syndrome
Ocular Hypertension
Eye Diseases
Iris Diseases
Uveal Diseases