Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica
试验速览
- 阶段
- 不适用
- 入组人数
- 60
- 试验地点
- 2
- 主要终点
- Muscle strength in Newton*meter
研究概览
简要总结
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders.
Muscle quality in patients with Late Onset Pompe Disease (Acid Maltase Deficiency type 2) and in patients with Myotonica Dystrophy will be evaluated, by determining muscle strength in relation to muscle size and muscle strength in relations to fat-muscle ratio.
详细描述
The investigators focus on the rare Glycogen Storage Disease type 2 (Pompe Disease), a genetic disease characterized by gradual replacement of muscular tissue with glycogen and fat, resulting in loss of muscle mass and muscle strength. Pompe disease is of particular interest since a new drug has recently been developed and approved for this, hitherto untreatable, condition. This treatment is expensive, and it is therefore of great importance to have objective methods of examination to monitor the disease and the effects of the treatment.
Until now, monitoring has been based primarily on physical test such as the 6 min walking test and isokinetic dynamometry. These methods may not be sensitive enough to detect changes for shorter periods in slowly progressing-diseases. New MRI techniques may be useful for monitoring in myopathies.
The other disease the investigators are focusing on is Myotonic Dystrophy, because of its great similarities with Pompe Disease. As with Pompe disease, the muscular tissue slowly degenerate and fat infiltrations occur.
Hypothesis
In this study, the investigators want to test the following hypotheses:
研究设计
- 研究类型
- Observational
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Diagnosed Pompe disease patients, whether they are in treatment with ERT or not, or Diagnosed Dystrophia Myotonica patients.
- •Healthy controls, have to be sex and age-matched to patients with muscular disease.
排除标准
- •Age under 18 years.
- •The subjects must be able to perform an MR-scanning. Moreover they have to sign and respect the MR security rules "Kontrol skema før MR undersøgelse" and "Patient information i forbindelse med MR scanning".
- •The subjects must be capable of performing the muscle strength test by the Dynamometer.
结局指标
主要结局
Muscle strength in Newton*meter
时间窗: one year
Muscle strength in measured by dynamometry, and the used outcome is the "peak torque".
Muscle to fat ratio
时间窗: one year
Calculated from the MR-images, is a measure for muscle quality. The calculations are based on the signal intensity of the fat and water Dixon MR-images.
Volume ratio
时间窗: one year
Defined from the MR-images, is a measure for muscle quality.
次要结局
- 6 minutes walking test(one year)
- Forced Vital Function(on year)