Neuromuscular Diseases
Conditions
Keywords
Becker muscular dystrophy, Facioscapulohumeral dystrophy, congenital myopathy, motor neurone diseases
Brief summary
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.
Detailed description
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
Interventions
OTHERmuscle oxygenation
Subjects will be invited to perform an isokinetic effort of the knee extensors against an isokinetic dynamometer. During this effort, muscle oxygenation and oxygen consumption will be assessed with a near infrared spectroscopy device and a gas exchange measurement device. Patients affected by Becker muscular dystrophy and healthy controls will be invited to have a muscle biopsy of the vastus lateralis.
Sponsors
University Hospital, Lille
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
18 Years to 70 Years
Healthy volunteers
Yes
Inclusion criteria
* 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
Exclusion criteria
* 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| muscle oxygenation | 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 | 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 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| maximal isokinetic strength of the knee extensors | on the day of first evaluation Visit V1 | measurements of the maximal moment during a maximal effort of the knee extensors with an isokinetic dynamometer |
| Gas exchange | on the day of first evaluation Visit V1 | measurements of O2 and CO2 exchanges during the isokinetic effort |
| MFM score | on the day of first evaluation Visit V1 | Motor Function Measure score (in %) assessment. quantitative scale that makes it possible to measure the functional motor abilities of a person affected by a neuromuscular disease. |
| 6 Minutes Walking Test (MWT) | on the day of first evaluation Visit V1 | assessment of the time performed during a 6 minutes walking test |
| Vignos functional scales | on the day of first evaluation Visit V1 | assesment of the 1 to 6 Vignos score for the lower limb functional assesment |
| Brooke functional scales | on the day of first evaluation Visit V1 | the 1 to 10 Brooke score for upper limb functional assesment |
| Medical Research Council Muscle testing | on the day of first evaluation Visit V1 | Assesment of the Medical Research Council 1 to 5 Muscle testing score of the quadriceps muscles |
| Mitochondrial phenotype | at V2 at least 1 week after V1 | Mitochondrial respiration (O2 consumption) of muscle fibers of the vastus lateralis |
| Mitochondrial H2O2 production | at V2 at least 1 week after V1 | Mitochondrial H2O2 production of muscle fibers of the vastus lateralis |
| kinetic of Muscle oxygenation | on the day of first evaluation Visit V1 | kinetic of level of deoxyhemoglobin during the isokinetic effort of the extensors of the knee |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORVincent Tiffreau, MD
CHRU de LILLE
Outcome results
None listed