Neuromuscular Diseases Clinical Trial
Official title:
Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment
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.
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
;
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