Muscle Oxygenation in Effort in Neuromuscular Diseases

Not Applicable

• Conditions: Neuromuscular Diseases
• Interventions: Other: muscle oxygenation

• Registration Number: NCT02789059
• Lead Sponsor: University Hospital, Lille

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

Study Timeline

• Study Start: 2015-07-02
• Study First Submitted: 2016-05-24
• Study First Submitted QC: 2016-05-26
• Study First Posted: 2016-06-02
• Status Verified: 2017-05
• Last Update Submitted: 2017-05-18
• Last Update Posted: 2017-05-19
• Primary Completion: 2017-07
• Study Completion: 2017-07

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: Male
• Target Recruitment: 170

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
muscle oxygenation	muscle oxygenation	assesment of muscle oxygenation and gas exchanges

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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
Mitochondrial H2O2 production	at V2 at least 1 week after V1	Mitochondrial H2O2 production of muscle fibers of the vastus lateralis
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
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
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
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

Trial Locations

Locations (3)

Hôpital Amiens Nord, Service de Neurologie; 🇫🇷 Amiens, France

CHRU de Lille, Hôpital Swyngedhauw; 🇫🇷 Lille, France

Hôpital Sébastopol, CHU de Reims; 🇫🇷 Reims, France