PREPL in Health and Disease
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 125
- 试验地点
- 2
- 主要终点
- PREPL activity in patients with Prader Willi syndrome compared to activity in normal controls
研究概览
简要总结
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
详细描述
PREPL is defective in hypotonia cystinuria syndrome and in isolated PREPL deficiency. The investigators have constructed a blood test to evaluate PREPL activity in patients with possible PREPL deficiency.
The study will determine normal values for age (0-18) for PREPL activity in blood.
Also, patients with a clinical phenotype that overlaps with PREPL deficiency (including patients with known primary PREPL deficiency and Prader-Willi syndrome) will be evaluated for PREPL activity in blood.
A last part of the study will involve muscle biopsies during elective anesthesia/surgery for other reasons. There will be 2 groups: patients without signs of PREPL deficiency undergoing surgery (controls) and patients with Prader-Willi syndrome undergoing anesthesia or surgery (patients). The control group will be age-matched to the hypotonia group. In the muscle biopsies, PREPL activity and expression will be evaluated.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- — 至 40 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •According to group
- •Control group: children seen at a postinfectious consultation
排除标准
- •Control group: symptoms overlapping with PREPL deficiency, genetic or syndromic disease, atypically developing children
- •other groups: contraindication for blood draw
- •group with muscle biopsy: contra-indication for muscle biopsy
结局指标
主要结局
PREPL activity in patients with Prader Willi syndrome compared to activity in normal controls
时间窗: 3 months
Comparison of PREPL activity in blood and muscle between above mentioned groups
PREPL activity (ng active PREPL/g protein) normal values in blood
时间窗: 3 months
normal values for PREPL activity
PREPL activity in patients with primary PREPL deficiency compared to activity in normal controls
时间窗: 3 months
Comparison of PREPL activity in blood between above mentioned groups
次要结局
- PREPL activity in patients with muscle weakness/obesity/growth hormone deficiency compared to activity in normal controls(3 months)