A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease
研究概览
简要总结
This project is an observational prospective study in which patients affected by an adult onset Pompe disease will be followed-up during three years using different clinical, analytical and radiological tests in order to know which is the natural history of the disease and which is the impact that treatment with recombinant enzyme has in the progression of the disease.
详细描述
Study aim:
The principal objective of the study is to find biomarkers that quantify the natural progression of the disease and to know if they are useful to determine the improvement or lack of impairment of the disease in response to Enzyme Replacement Therapy (ERT).
Study design:
A single center observational prospective study.
Patients:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 8 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Pompe disease confirmed using genetic study
- •Onset of symptoms more than 2 years old
- •To be able to come to the hospital and follow all the visits
- •Patients with respiratory involvement are welcomed
排除标准
- •Patients unable to perform a MRI (respiratory problems can be solved using mechanical ventilation)
结局指标
主要结局
Changes in muscle atrophy using muscle MRI in patients with adult onset Pompe disease
时间窗: baseline, 6 months, one year, two years and three years
To know the natural progression of the disease regarding muscle atrophy measured using muscle MRI during a period of three years.
次要结局
- Muscle strength(baseline, 6 months, one year, two years and three years)
- Micro RNA study(baseline, 6 months, one year, two years and three years)