Exoskeleton Impact on the Quality of Life on Patients With Spinal Muscular Atrophy
Spinal Muscular Atrophy Type IIThe purpose of this study is to evaluate the impact of the use of a pediatric exoskeleton on the quality of life of children, specifically in the psychological and care dimensions. Other objectives are to evaluate changes at the physical and functional level.
Efficacy of Vaccination Against COVID-19 in Patients Presenting a Neuromuscular Disease With Severe...
Neuromuscular DiseasesCOVID-191 moreDes vaccins sont désormais disponibles en France, dont le vaccin Moderna COVID-19 qui est basé sur la technologie des ARNm. La séquence génétique qu'il contient code pour la protéine Spike (S) de l'enveloppe virale, protéine clé de la pénétration du virus dans les cellules qu'il infecte. Le vaccin ARNm est injecté par voie intramusculaire et pénètre dans les fibres musculaires, qui sont des cellules produisant des protéines en très grande quantité en continu, notamment pour la production de myofibrilles impliquées dans la contraction musculaire. Une fois à l'intérieur de la fibre musculaire, l'ARNm vaccinal est traduit par la machinerie de la fibre musculaire permettant une grande quantité de protéine Spike (S) qui sera présentée au système immunitaire provoquant la réponse vaccinale et notamment les anticorps neutralisants anti-S (NAb). Ces NAb anti-S agissent en perturbant l'interaction entre la protéine S du virus et le récepteur ACE2 (Angiotensin-Converting Enzyme 2), qui sert généralement de " passerelle " entre le virus et la cellule. Une campagne de vaccination est actuellement en cours au MAS-YDK avec le vaccin Moderna. Cette population est donc relativement homogène en termes d'amyotrophie, de non exposition au SARS-CoV-2 et de protocole vaccinal.
Electrical Stimulation for Attenuating Muscle Atrophy
COPDObjectives: This study aims to examine the use of low frequency (2Hz), low amplitude (intensity just produce visible muscle contraction), and long duration (2x3 hrs/day) neuromuscular electrical simulation (NMES) in attenuating the effects of muscle atrophy resulted from disuse. Design and subjects: The study is a randomized, double-blind, controlled, and parallel group study. Subjects with stable chronic obstructive pulmonary disease (COPD) will be included. Intervention: Subjects will be randomized to 3 groups to receive different NMES program over the quadriceps and calf muscles: (i) the proposed NMES program; (ii) conventional NMES program (50Hz, 30 min/day), or sham group for a period of 8 weeks. Outcome measures:The effectiveness of the NMES will be evaluated by the improvement in muscle cross-sectional area (CSA), muscle performance (muscle strength, muscle shortening velocity and muscle activation testing), functional performance (6 min walk) and subjects' rating of the perceived acceptability of the stimulation protocol. Data analysis: Baseline characteristics of the intervention and sham groups will be compared using one way ANOVA. Two-way mixed repeated measures analysis of variance will be performed to examine the differences between groups over time for all the outcome variables. The significance level is set at p < 0.05. Expected results: The investigators hypothesize that the proposed new paradigm of NMES would be more effective in improving muscle cross-sectional area (CSA), strength, endurance, and exercise tolerance.
Clinical Assessment of Spinal Muscular Atrophy Type II and III (SMA Europe)
Spinal Muscular AtrophyThe aim of this project is to establish a network of clinical teams including the major neuromuscular centers in Europe. We plan to work together to find the best common outcome measures for the following multicenter therapeutic trials.
A Prospective Study Of Biomarkers Of Skeletal Muscle Atrophy
SarcopeniaThis is a single center, prospective biomarker study to evaluate serum levels of TWEAK and expression levels of TWEAK and Fn14 in muscle biopsies from patients with sarcopenia as well as healthy, physically active controls.
Expiratory Muscle Function in Critically Ill Ventilated Patients
Mechanical VentilationExpiratory Muscle3 moreInspiratory muscle weakness develops rapidly in ventilated critically ill patients and is associated with adverse outcome, including prolonged duration of mechanical ventilation and mortality. Surprisingly, the effects of critical illness on expiratory muscle function have not been studied. The main expiratory muscles are the abdominal wall muscles, including the external oblique (EO), internal oblique (IO) and transversus abdominis muscles (TRA). These muscles are activated when respiratory drive or load increases, which can be during e.g. exercise, diaphragm fatigue, increased airway resistance, or positive airway pressure ventilation. The abdominal wall muscles are also critical for protective reflexes, such as coughing. Reduced abdominal muscles strength may lead to decreased cough function and thus inadequate airway clearance. This will lead to secretion pooling in the lower airways, atelectasis, and ventilator associated pneumonia (VAP). Studies have shown that decreased cough function is a risk for weaning failure and (re)hospitalization for respiratory complications. Further, high mortality was found in patients with low peak expiratory flow. Considering the importance of a proper expiratory muscle function in critically ill patients, it is surprising that the prevalence, causes, and functional impact of changes in expiratory abdominal muscles thickness during mechanical ventilation (MV) for critically ill patients are still unknown. Ultrasound is increasingly used in the ICU for the visualization of respiratory muscles. In a recent pilot study the investigators confirmed the feasibility and reliability of using of ultrasound to evaluate both diaphragm and expiratory abdominal muscle thickness in ventilated critically ill patients (manuscript in preparation). Accordingly, the primary aim of the present study is to evaluate the evolution of abdominal expiratory muscle thickness during MV in adult critically ill patients, using ultrasound data.
Concurrent Assessment of Skeletal Muscle Mass and Synthesis/Breakdown in Old Age
SarcopeniaMuscle AtrophyThis study involves minimally-invasive techniques to measure muscle mass, muscle protein breakdown and synthesis simultaneously in older age.
50% Body Weight Reverses Stature, Lumbar Disc Expansion and Vertebral Compliance by Hyper-Buoyancy...
Intervertebral Disc CompressionMuscle Atrophy1 moreStudy with the aim to see the effect on a space ground analogue , Hyper-Buoyancy Floatation (HBF) on lumbar column and the effect of a supplementary 50% of an axial load.
Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development...
Spinal Muscular Atrophy (SMA)Spinal muscular atrophy (SMA) is the leading genetic cause of death of infants. Strong preclinical evidence suggests that effective therapy must be delivered as early as possible to prevent progression of the disease. The primary study objective will be to identify prognostic and surrogate biomarkers of disease progression that will facilitate the execution of therapeutic SMA clinical trials in infants.
Palliative Care in Spinal Muscular Atrophy (SMA) 1
Spinal Muscular Atrophy 1The purpose of this study is to evaluate the quality of supportive and palliative care for SMA type 1 patients.