Investigating the Genetic Basis of Pseudoexfoliation Syndrome, Angle-closure Glaucoma and Primary Open-angle Glaucoma
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Genetic markers
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 21 Years 至 105 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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)
- •No evidence of exfoliation glaucoma / pseudoexfoliation of the lens or pigment glaucoma
- •Informed consent
- •Age 30 or more
排除标准
- •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
结局指标
主要结局
Genetic markers
时间窗: 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.
次要结局
未报告次要终点
研究者
Gerhard Garhofer
Assoc. Prof. PD Dr.
Medical University of Vienna