GlaucomaNCT03423758
Investigating the Genetic Basis of Pseudoexfoliation Syndrome, Angle-closure Glaucoma and Primary Open-angle Glaucoma
An observational study of Glaucoma, run by Medical University of Vienna at 1 site in Austria.
Trial 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). Read more about this study
- Who is it for?
- Ages 21 to 105 yearsHealthy volunteers can take part
- Conditions the study is for
- Glaucoma
- What is being tested?
- Blood sample
- How many people
- 300 participants
- Where
- 1 siteAustria
- Study dates
- 30 May 2017to 30 Jan 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 21 to 105 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 1. Normal Healthy group 2. Patients with Pseudoexfoliation Glaucoma 3. Patients with Angle closure Glaucoma 4. Patients with Primary open-angle Glaucoma
Who may be able to join
- 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
Show all 18Show fewer
- 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)
- No evidence of exfoliation glaucoma / pseudoexfoliation of the lens or pigment glaucoma
- Informed consent
- Age 30 or more
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Austria1 site, 1 recruiting
- Recruiting
Department of Clinical Pharmacology, Medical University of Vienna
Vienna, 1090
Gerhard Garhofer, MD, 00431 40400 ext. 29810, gerhard.garhoefer@meduniwien.ac.at
Doreen Schmidl, MD, 00431 40400 ext. 29880, doreen.schmidl@meduniwien.ac.at
About this study
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.
Read the 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.
Identification of responsible genes for POAG development can on one hand broaden our knowledge on disease pathophysiology and on the other hand open new doors in the search for pharmacological disease modification. Especially the latter is urgently needed as IOP has for many years been the only pharmacological target and fails to prevent disease progression in a certain proportion of POAG patients.
- Conditions
- Glaucoma
- Being tested
- Blood sample
- Keywords
- Pseudoexfoliation Glaucoma, Angle block glaucoma, Primary Open-Angle Glaucoma, Genetic
- Medical subject headings
- Glaucoma, Exfoliation Syndrome, Glaucoma, Open-Angle
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleOther
Blood sample
| Study group | Role | What they receive |
|---|---|---|
| Healthy controls | Healthy subjects with age more than 60 years Receives: Other: Blood sample | |
| Pseudoexfoliation Glaucoma | Already diagnosed Pseudoexfoliation glaucoma patients with age more than 50 years Receives: Other: Blood sample | |
| Angle closure Glaucoma | Already diagnosed Angle closure Glaucoma patients with age more than 21 years Receives: Other: Blood sample | |
| Primary open-angle Glaucoma | Already diagnosed primary open-angle glaucoma with age more than 30 years Receives: Other: Blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Feb 2018
- Study start30 May 2017
- Primary completion30 Jan 2026 (estimated)
- Study completion30 Jan 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GlaucomaStudies of the same condition, open and under way.
- More trials run by Medical University of ViennaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Medical University of Vienna
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Gerhard Garhofer, Medical University of Vienna
- Investigators
- Gerhard Garhöfer, Principal investigator, Medical University of Vienna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03423758
- Sponsor's protocol ID
- OPHT-271016
- Status last verified
- Apr 2025
- First submitted
- 8 Jan 2018
- Last updated
- 23 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 23 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigating the Genetic Basis of Pseudoexfoliation Syndrome, Angle-closure Glaucoma and Primary Open-angle Glaucoma
- ClinicalTrials.gov ID
- NCT03423758
- Acronym / sponsor ID
- OPHT-271016
- Conditions
- Glaucoma
- Keywords
- Pseudoexfoliation Glaucoma, Angle block glaucoma, Primary Open-Angle Glaucoma, Genetic
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Medical University of ViennaUniversity, hospital or other
- Study start
- 30 May 2017 (actual)
- Primary completion
- 30 Jan 2026 (estimated)
- Study completion
- 30 Jan 2026 (estimated)
- First posted
- 6 Feb 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Identification of responsible genes for POAG development can on one hand broaden our knowledge on disease pathophysiology and on the other hand open new doors in the search for pharmacological disease modification. Especially the latter is urgently needed as IOP has for many years been the only pharmacological target and fails to prevent disease progression in a certain proportion of POAG patients.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Healthy controls | – | Other: Blood sampleHealthy subjects with age more than 60 years |
| Pseudoexfoliation Glaucoma | – | Other: Blood sampleAlready diagnosed Pseudoexfoliation glaucoma patients with age more than 50 years |
| Angle closure Glaucoma | – | Other: Blood sampleAlready diagnosed Angle closure Glaucoma patients with age more than 21 years |
| Primary open-angle Glaucoma | – | Other: Blood sampleAlready diagnosed primary open-angle glaucoma with age more than 30 years |
Who may qualify
- Ages
- 21 to 105 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 1. Normal Healthy group 2. Patients with Pseudoexfoliation Glaucoma 3. Patients with Angle closure Glaucoma 4. Patients with Primary open-angle Glaucoma
Key inclusion criteria (18 listed)
- For patients with PXF:
- For patients with PACG:
- For healthy controls:
- For patients with POAG:
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sampleBlood sample | Other | Angle closure Glaucoma, Healthy controls, Primary open-angle Glaucoma, Pseudoexfoliation Glaucoma |
Primary outcome
Genetic markers
Time frame: 1 day
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 May 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Gerhard Garhöfer principal investigator
Medical University of Vienna
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Glaucoma, run by Medical University of Vienna at 1 site in Austria.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 18 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 23 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Austria. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Gerhard Garhöfer (0140 400 29880, gerhard.garhoefer@meduniwien.ac.at), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic markers (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 May 2025.