Metabolic Evaluation of Nutrition in Rett Syndrome: Creatine Metabolism
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 13
- 试验地点
- 1
- 主要终点
- Confirm previous findings and examine the functionality of the creatine transporter in RTT girls
研究概览
简要总结
Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The pathological mechanism is barely understood. Although feeding difficulties may play a role in this, other constitutional factors as altered metabolic processes are suspected. Preliminary research showed elevated plasma creatine concentrations and increased urinary creatine/creatinine ratios in half of the RTT girls.
The aim of this study is to confirm previous findings and examine the functionality of the creatine transporter in RTT girls.
The investigators assume that previous findings will be confirmed, and are due to an altered functionality of the creatine transporter.
研究设计
- 研究类型
- Observational
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 3 Years 至 20 Years（Child, Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of RTT (meeting consensus diagnostic criteria (Hagberg et al, 2002));
- •MECP2-mutation;
- •Complete neurophysiological work-up;
- •Participant preliminary research (research protocol NL25356.068.08).
排除标准
- •Male gender
结局指标
主要结局
Confirm previous findings and examine the functionality of the creatine transporter in RTT girls
时间窗: One hour
Blood as well as urine samples will be collected to confirm previous findings concerning plasma and urine creatine concentrations. Furthermore, blood samples will be used to perform mutation analysis of the SCL6A8 gene. Secondary, a skin biopsy will be collected for functional studies regarding the creatine transporter in RTT girls. By comparing intracellular and extracellular creatine concentrations, one can assess the functionality of the creatine transporter.
次要结局
未报告次要终点