NCT01022957已完成不适用
Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis
适应症
干预措施
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 150
- 试验地点
- 2
- 主要终点
- to determine the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation
研究概览
简要总结
to describe evolution of Nephronophthisis
详细描述
To specify the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation
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
- 7 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation
- •7 years old and older
排除标准
- •MRI contra-indications
研究组 & 干预措施
Study group
Experimental
Neurological, ophthalmological, olfactive exams and cerebral MRI
干预措施: genetic diagnosis (Genetic)
结局指标
主要结局
to determine the long term evolution of Nephronophthisis in terms of renal disease as well as extra-renal damages for patients having a confirmed diagnosis of NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6 or NPHP8 gene mutation
时间窗: start from the first time of clinical diagnosis to now
次要结局
- to study siblings to anticipate clinical complications (renal and extra-renal damages) of Nephronophthisis
研究者
研究点 (2)
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