Clinical Trial: Muscle Oxygenation in Effort in Neuromuscular Diseases

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: Muscle Oxygenation Modification During Effort in 4 Groups of Neuromuscular Diseases Compared to Healthy Controls, and Mitochondrial Function and Phenotype Assessment

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 Summary:

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

Sponsor: University Hospital, Lille

Current Primary Outcome:

• muscle oxygenation [ Time Frame: 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 [ Time Frame: 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

Original Primary Outcome:

• muscle oxygenation [ Time Frame: 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 [ Time Frame: on the day of first evaluation Visit V1 ]
  Cinetic of the desoxyhemmoglobin assessed with the NIRS device during the isokinetic effort of the knee extensors

Current Secondary Outcome:

• maximal isokinetic strength of the knee extensors [ Time Frame: 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 [ Time Frame: on the day of first evaluation Visit V1 ]
  measurements of O2 and CO2 exchanges during the isokinetic effort
• MFM score [ Time Frame: 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) [ Time Frame: on the day of first evaluation Visit V1 ]
  assessment of the time performed during a 6 minutes walking test
• Vignos functional scales [ Time Frame: 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 [ Time Frame: on the day of first evaluation Visit V1 ]
  the 1 to 10 Brooke score for upper limb functional assesment
• Medical Research Council Muscle testing [ Time Frame: 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 [ Time Frame: at V2 at least 1 week after V1 ]
  Mitochondrial respiration (O2 consumption) of muscle fibers of the vastus lateralis
• Mitochondrial H2O2 production [ Time Frame: at V2 at least 1 week after V1 ]
  Mitochondrial H2O2 production of muscle fibers of the vastus lateralis
• kinetic of Muscle oxygenation [ Time Frame: on the day of first evaluation Visit V1 ]
  kinetic of level of deoxyhemoglobin during the isokinetic effort of the extensors of the knee

Original Secondary Outcome:

• maximal isokinetic strength of the knee extensors [ Time Frame: on the day of first evaluation Visit V1 ]
  measurements of the maximal moment during a maximal effort of the knee extensors with an isokinetiv dynamometer
• Gas exchange [ Time Frame: on the day of first evaluation Visit V1 ]
  measurements of O2 and CO2 exchanges during the isokinetic effort
• MFM score [ Time Frame: 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) [ Time Frame: on the day of first evaluation Visit V1 ]
  assessment of the time performed during a 6 minutes walking test
• Vignos functional scales [ Time Frame: 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 [ Time Frame: on the day of first evaluation Visit V1 ]
  the 1 to 10 Brooke score for upper limb functional assesment
• Medical Research Council Muscle testing [ Time Frame: 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 [ Time Frame: at V2 at least 1 week after V1 ]
  Mitochondrial respiration (O2 consumption) of muscle fibers of the vastus lateralis
• Mitochondrial H2O2 production [ Time Frame: at V2 at least 1 week after V1 ]
  Mitochondrial H2O2 production of muscle fibers of the vastus lateralis
• cinetic of Muscle oxygenation [ Time Frame: on the day of first evaluation Visit V1 ]
  cinetic of level of desoxyhemmoglobin during the isokinetic effort of the extensors of the knee

Information By: University Hospital, Lille

Dates:
Date Received: May 24, 2016
Date Started: July 2, 2015
Date Completion: July 2017
Last Updated: May 18, 2017
Last Verified: May 2017