Screening for Fabry Disease in Renal Transplantation
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 592
- 试验地点
- 1
- 主要终点
- Number of Patients with Positive screen result
研究概览
简要总结
Single centre, prospective pilot study examining the relevance to screen for Fabry disease in a cohort of patients who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause.
详细描述
Exploration whether Fabry disease cases can be identified among patients who are followed at the Montpellier University Hospital after renal transplantation, with indeterminate cause of renal failure or diabetic nephropathy (due to its high frequency) or secondary focal segmental hyalinosis (FSH).
At the population level, the identification of cases at the Montpellier centre could then justify to expand this screening to other French centres. The goal is to contribute to adapt current guidelines of renal failure assessment, by systematically including Fabry among the diagnostic tests. Whether all patients with renal failure are concerned, or only those with indeterminate cause, is an important question this study will address.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Nephropathy of indeterminate cause, or secondary FSH or diabetic nephropathy
- •Patients with kidney transplanted
- •Patients still followed at the Montpellier University Hospital
- •Obtaining written informed consent
- •Age > 18 years old, no upper age limit
排除标准
- 未提供
结局指标
主要结局
Number of Patients with Positive screen result
时间窗: Inclusion visit
The genetic analysis will be performed based on the biochemical results (low enzyme activity, raised lysoGL3)
次要结局
未报告次要终点