Prospective Analysis of Quantitative and Qualitative Muscle Abnormalities in Children With X-linked Hypophosphatemia (XLH)
试验速览
- 阶段
- 不适用
- 入组人数
- 30
- 主要终点
- Quantify and compare muscle composition in XLH children versus healthy control children to demonstrate a link between muscle function and muscle quality.
研究概览
简要总结
XLH rickets is a rare disease with muscle weakness. Fat parameters such as IMAT and intraMAT could be increased in this disease. IMAT and intraMAT will be calculated on MRI for 11 XLH children versus 20 typically developing children. The investigator will compare the percentage of IMAT in the XLH group versus control group and the difference concerning the intraMAT between the two groups.
详细描述
Single-center, prospective, non-randomized, controlled study with XLH and healthy volunteer children.
This study involves performing muscle MRI in healthy child volunteers to assess and compare the structure and composition of muscles to those of muscles in children with XLH pathology (muscle MRI of XLH patients is performed as part of standard medical care).
During this study we will have two groups: XLH group and a control group with typically developing children. In the XLH group, composed of 10 patients aged between 5 ans 17 years, female or male and ongoing growth (lesser bone age than 15 years old), have XLH and the most severe radiological deformities,clinical complications (pain and muscular weakness), have already done a muscle MRI of the lower limb during their follow-up.
The control group composed of 20 healthy volunteers aged between 5 ans 17 years old, female or male and without any endocrine pathology. A muscle MRI is necessary for healthy volunteers.
Every child will be alone After signing the informed consent by the 2 parents, the patient or the healthy volunteer and his parents, the MRI assessment will be performed on the same day.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 5 Years 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Quantify and compare muscle composition in XLH children versus healthy control children to demonstrate a link between muscle function and muscle quality.
时间窗: 1 day
calculation of inter-muscular adipose tissue will be done in cm2
次要结局
- Quantitative analysis of the muscles of the lower limbs (volume and length)(1 day)
- Measurement of muscle strength on force platforms, during gait analysis. Power test by mechanography of the jump (bipod and monopodal). Grasping test and correlation of fatty infiltration and functional data.(1 day)