Complement Factor H Haplotypes and Smoking in Age-related Macular Degeneration
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 223
- 试验地点
- 2
- 主要终点
- Age in Study Participants
研究概览
简要总结
Risk factors for Age-related Macular Degeneration (AMD) involves genetic variations in the alternative pathway of complement inhibitor factor H. The complement system is part of the innate and adaptive immune system. Smoking is the only environmental factor known to increase the risk of Age-related Macular Degeneration (AMD). Using serum samples of Age-related Macular Degeneration (AMD) patients and controls the investigators will test the hypothesis that smoking increases Age-related Macular Degeneration (AMD) by increasing complement activation; and that this is positively correlated with known disease variations in the complement factor H (CFH) gene.
详细描述
RESEARCH DESIGN AND METHODS A) Study design This study is designed to determine whether smoking increases complement activation and whether there are specific AMD genotypes that are particularly sensitive to this elevated level of serum complement components.
B) Selection of subjects and controls Case subjects and age-matched (within 5 years) control subjects will be recruited under a protocol approved by the Johnson and DeBakey VA Medical Centers, and the Medical University of South Carolina (MUSC) Human Investigation Review Board.
Inclusion Criteria
- Case subjects with a clear diagnosis of AMD and at least a 20/40 view of the fundus.
- Control subjects with <5 small hard drusen and at least a 20/40 view of the fundus.
- All subjects will have the ability to provide a blood sample, demonstrate the absence of exclusion criteria listed below, provide their own consent, or have a legal representative available to provide consent for them, able to complete all aspects of testing, and be in generally good medical health in the opinion of the study physician.
Exclusion Criteria
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
- 40 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Inclusion criteria for subjects will be a clear diagnosis of Age-related Macular Degeneration (AMD)
- •Inclusion criteria for controls will be less than five small (< 63 um) hard drusen
- •At least a 20/40 view of the fundus
- •The ability to provide a blood sample, and the absence of exclusion criteria listed
排除标准
- •The investigators will exclude individuals with ocular diseases that might simulate Age-related Macular Degeneration (AMD) or preclude its diagnosis.
- •Those might include prior laser photocoagulation, cryopexy, media opacity, and inflammatory diseases.
- •It is important for potential control subjects not to exhibit media opacity (e.g., cataract), which will prevent visualization of the macula.
- •Also, subjects will be excluded if they exhibit diseases that phenotypically overlap with Age-related Macular Degeneration (AMD) such as drusen or pigmentary disturbance of the retinal pigment epithelium (RPE), or that provided insufficient evidence to diagnose Age-related Macular Degeneration (AMD).
- •In addition, subjects with pattern dystrophies, toxoplasmosis, histoplasmosis, degenerative myopia, central serous chorioretinopathy, or any disease or treatment that would diminish the ability to recognize drusen such as laser photocoagulation, prior retinal detachment surgery, posterior uveitis, and trauma will be excluded.
结局指标
主要结局
Age in Study Participants
时间窗: baseline visit
Assessment of Age based on clinical records.
次要结局
- Number of Participants That Are Smokers(Day 1 of study)
- Percentage of Complement Pathway Proteins in the Serum(within a month of obtaining blood sample)
- Number of Participants With Signal Nucleotide Polymorphisms for CFH Locus(Blood sample collection at contact)