Prevalence of Lysosomal Hydrolase Alpha-glagtosidase Deficiency in Patients
试验速览
- 阶段
- 不适用
- 入组人数
- 100
- 试验地点
- 2
- 主要终点
- Lys-3-3 plasma
研究概览
简要总结
Fabry disease, an X-linked disorder of glycosphingolipids that is caused by mutations of the GLA gene that codes for α-galactosidase A, leads to dysfunction of many cell types and includes a systemic vasculopathy. As a result, patients have a markedly increased risk of developing ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction and chronic kidney disease. Because this disease is a rare disease most of the time it is misdiagnosed, so in this study we will check out the Prevalence of lysosomal hydrolase alpha-glagtosidase deficiency ( Fabry disease) in patients with Antiphospholipid Syndrome.
详细描述
the investigators would like to assess the prevalence of Fabry in men and women aged 18-100 who were diagnosed with antiphospholipid syndrome in our departmental clinic in 2000-2017 It is very important to diagnose Fabri that then the treatment of patients can vary dramatically.
The study will include 100 adult patients (18-100) men and women. Testing for the Fabri test in men is an enzyme test and will be performed subject to their consent to sign informed consent. In the women, an enzyme test will be carried out, and the plasma Lys-3-3 plasma storage, as recommended in the recently published diagnostic algorithms, is examined. If diagnosed, a patient will be referred to a genetic institute for further genetic counseling
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 100 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of Antiphospholipid syndrome.
- •able to read and sign inform concent
排除标准
- •Fabry disease.
研究组 & 干预措施
antiphospholipid syndrome
blood test in patients that diagnosed with antiphospholipid syndrome to diagnose Fabry's disease
干预措施: antiphospholipid syndrome (Diagnostic Test)
结局指标
主要结局
Lys-3-3 plasma
时间窗: an average of 1 year
blood test to find the enzyme for Fabry's disease
次要结局
未报告次要终点
研究者
yair levy
head of department internal medicine E
Meir Medical Center