Quantification of Bone Marrow Involvement in Gaucher Disease With Proton MR Spectroscopy, Correlation With Bone Marrow Burden Score, Genotype and Disease Severity Score for Pediatric Patients
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 24
- 试验地点
- 1
- 主要终点
- Difference in the fat fraction (quantified by MRS) between subjects with Gaucher disease and controls.
研究概览
简要总结
The bone status in Gaucher disease is very difficult to monitor precisely in children. This is a major problem because lack of optimal treatment, especially enzyme replacement, may cause irreversible severe bone damage that will impact an affected person's life. Currently, there are qualitative (subjective) methods, such as Magnetic resonance Imaging (MRI), to gauge the response to treatment. A quantitative (objective) measurement of Gaucher cell presence and activity in bone marrow could help with more precise and accurate monitoring of bone marrow disease in patients both treated and not (yet) being treated with enzyme replacement. The investigators will evaluate the efficacy of Magnetic Resonance Spectroscopy (MRS) as a quantitative assessment of bone marrow involvement in Children with Gaucher, and examine how this result correlates with semiquantitative MRI scales and overall disease severity.
详细描述
To quantify the amount of fat in the bone marrow of affected subjects and healthy controls the investigators will use Single voxel short, echo time(TE) proton spectroscopy. This MR Spectroscopy (MRS) will be conducted in the vertebral body of L5 and in the neck of the femur.
To assess the qualitative scores and compare it to the quantitative MR Spectroscopy (MRS) results the investigators will use a series of Fluid sensitive and Fat sensitive conventional MR sequences that will allows us to determine indirectly the degree of glucocerebrosidase infiltration.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 5 Years 至 20 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Confirmed diagnosis of Gaucher disease / age and gender match control
- •Children aged 5-20 yrs
- •Parental consent
- •Child assent if appropriate
排除标准
- •Presence of medical illness or exposure to drugs that alter the appearance of bone marrow on MRI
- •Contraindication for MRI
- •Likelihood for claustrophobia
- •Non cooperative patient
- •Pregnancy
结局指标
主要结局
Difference in the fat fraction (quantified by MRS) between subjects with Gaucher disease and controls.
时间窗: within 5 minutes
We will measure the fat fraction only once, at the time of recruitment. We will compare the fat fraction of an affected subject to that of an age matched control. We will determine if significant difference exist.
次要结局
- Difference in the semiquantitative MRI scores between affected subjects and controls(within 5 minutes)