Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 17
- 试验地点
- 3
- 主要终点
- muscle oxygenation
研究概览
简要总结
Previous studies showed modifications of muscle oxygenation parameters in muscular dystrophies du to an impairment or an absence of dystrophin.
Our study aim at assessing muscle oxygenation during effort in different neuromuscular diseases (muscular dystrophies related and not related to dystrophin, non dystrophic myopathies and motor neuron diseases) compared to a group of healthy controls. Patients and controls are invited to perform an inframaximal , standardized effort of the knee extensors by the mean of an isokinetic dynamometer. Muscle oxygenation parameters are assessed through a Near Infrared Spectroscopy (NIRS) Device.
In patients affected by dystrophin related myopathies, a muscle biopsy will be performed in order to analyse mitochondrial oxygenation parameters and mitochondrial phenotype.
Our Hypothesis is that muscle oxygenation is impaired in dystrophin related muscular dystrophies compared to other neuromuscular diseases and healthy controls because of lack of muscle capillary vessels dilatation during effort and impairment of mitochondrial function.
详细描述
This study is a prospective physiological study in a pathological condition (neuromuscular diseases).
5 groups of voluntary participants will be investigated:
1. 20 subjects affected by Dystrophin related muscular dystrophy (Becker Muscular Dystrophy ) 2. Subjects affected by muscular dystrophy not related to dystrophin impairment : 20 subjects affected by facioscapulohumeral dystrophy and 20 subjects affected by Limb Girdle Muscular dystrophy 3. 20 subjects affected by non-dystrophic myopathies (Congenital myopathies ) 4. 20 subjects affected by motor diseases: amyotrophic lateral sclerosis(ALS), Charcot Marie Tooth disease, Spinal Muscular Atrophy .
5. 20 healthy controls Objective: asses the muscular oxygenation modifications during a standardized effort and compare the variables between groups. Analyze the mitochondrial function and phenotype in the BMD group compared to healthy controls Outcome : Muscle Oxygenation by Near Infrared Spectroscopy parameters; oxygen consumption, Muscle Function Measure, Vignos and Brooke score, Borg scale, 6 minutes walk test, mitochondrial phenotype, mitochondrial oxygenation 3 visits : 1- inclusion 2- standardized effort protocol 3- for Becker dystrophy patients and voluntary controls, muscle biopsy of the Vastus Lateralis
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 70 Years（Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 是
入选标准
- •healthy subjects and
- •subjects affected by one of the fallowing neuromuscular diseases: Becker Muscular dystrophy Facioscapulohumeral dystrophy, Limb Girdle Muscular Dystrophy , Congenital Myopathy , Spinal Muscular Atrophy Charcot Marie Tooth Disease and Amyotrophic Lateral Sclerosis ,
- •able to walk
- •presenting a manual muscle testing of at Least 4/5 on the quadriceps according to the Medical research Council
排除标准
- •musculoskeletal pain of the quadriceps
- •other neurological disorders
- •Heart failure arrhythmia, uncontrolled hypertension, angina pectoris
- •dyspnoea >2 according to the NYHA
- •Peripheral artery disease
- •BMI >30kg.m-2.
研究组 & 干预措施
muscle oxygenation
assesment of muscle oxygenation and gas exchanges
干预措施: muscle oxygenation (Other)
结局指标
主要结局
muscle oxygenation
时间窗: on the day of first evaluation Visit V1
level of deoxyhemoglobin assessed with the NIRS device during the isokinetic effort of the knee extensors
Muscle oxygenation
时间窗: on the day of first evaluation Visit V1
kinetics of the deoxyhemoglobin assessed with the NIRS device during the isokinetic effort of the knee extensors
次要结局
- Gas exchange(on the day of first evaluation Visit V1)
- MFM score(on the day of first evaluation Visit V1)
- 6 Minutes Walking Test (MWT)(on the day of first evaluation Visit V1)
- Mitochondrial H2O2 production(at V2 at least 1 week after V1)
- Vignos functional scales(on the day of first evaluation Visit V1)
- maximal isokinetic strength of the knee extensors(on the day of first evaluation Visit V1)
- Brooke functional scales(on the day of first evaluation Visit V1)
- Medical Research Council Muscle testing(on the day of first evaluation Visit V1)
- Mitochondrial phenotype(at V2 at least 1 week after V1)
- kinetic of Muscle oxygenation(on the day of first evaluation Visit V1)