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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

Tracking Information
First Submitted Date January 8, 2018
First Posted Date February 6, 2018
Last Update Posted Date February 6, 2018
Actual Study Start Date May 30, 2017
Estimated Primary Completion Date May 30, 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 5, 2018)
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.
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Investigating the Genetic Basis of Pseudoexfoliation Syndrome and Angle-closure Glaucoma
Official Title Investigating the Genetic Basis of Pseudoexfoliation Syndrome and Angle-closure Glaucoma
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.
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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Probability Sample
Study Population
  1. Normal Healthy group
  2. Patients with Pseudoexfoliation Glaucoma
  3. Patients with Angle closure Glaucoma
Condition Glaucoma
Intervention Other: Blood sample
Blood sample
Study Groups/Cohorts
  • Healthy controls
    Healthy subjects with age more than 60 years
    Intervention: Other: Blood sample
  • Pseudoexfoliation Glaucoma
    Already diagnosed Pseudoexfoliation glaucoma patients with age more than 50 years
    Intervention: Other: Blood sample
  • Angle closure Glaucoma
    Already diagnosed Angle closure Glaucoma patients with age more than 21 years
    Intervention: Other: Blood sample
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: February 5, 2018)
200
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 30, 2019
Estimated Primary Completion Date May 30, 2019   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: All
Ages 21 Years to 105 Years   (Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Gerhard Garhöfer 0140 400 29880 gerhard.garhoefer@meduniwien.ac.at
Contact: Doreen Schmidl 0140 400 29880 doreen.schmidl@meduniwien.ac.at
Listed Location Countries Austria
Removed Location Countries  
 
Administrative Information
NCT Number NCT03423758
Other Study ID Numbers OPHT-271016
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Gerhard Garhofer, Medical University of Vienna
Study Sponsor Medical University of Vienna
Collaborators Not Provided
Investigators
Principal Investigator: Gerhard Garhöfer Medical University of Vienna
PRS Account Medical University of Vienna
Verification Date February 2018