Study of the Functional Effects of Nusinersen in 5q-spinal Muscular Amyotrophy Adults (SMA Type...
Spinal Muscular AtrophySpinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by a mutation of exon 7, in 95% of cases, encoding the gene for the motor neuron survival protein called SMN1 (Survival Motor Neuron) located on chromosome 5q. Patients with an SMA-5q mutation suffer from progressive muscle deficiency and subsequent atrophy induced by degeneration of motor neurons in the spinal cord. Gene therapy is now available for the management of spinal muscular atrophy and nusinersen is the first approved treatment. Nusinersen has been granted marketing authorization in France since May 30, 2017. Nusinersen has a high level of medical service rendered (MSR) for types I, II, and III, but the improvement in medical service rendered (IMSR) is assessed as moderate for types I and II. For Type III, IMSR is not known.
Skeletal Muscle Atrophy and Dysfunction Following Total Knee Arthroplasty
Knee OsteoarthritisTotal knee replacement, or arthroplasty, is the final clinical intervention available to relieve pain and functional limitations related to advanced stage knee osteoarthritis. Despite its beneficial effects, the early post-surgical period is characterized by the erosion of lower extremity muscle size and strength that cause further disability and slow functional recovery. While the detrimental effects of this period on muscle are widely recognized, the mechanisms underlying these adaptations are poorly understood and there are currently no widely-accepted clinical interventions to counter them
Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative...
Spinal Muscular AtrophyThe aim of the study is to propose a method for quantifying motor function in infants with spinal muscular atrophy treated with innovative therapies using inertial sensors.
Outcome Measures and Biomarkers in a Cohort of Spinal Muscular Atrophy Type III/ IV Patients
Spinal Muscular AtrophyThe "SMOB" project intends to contribute to fill the gap with reliable and operational outcome measures for type III and IV SMA. In analysing the reliability in imaging (spinal and muscular), electrophysiology analysis (MUNIX), and evaluate the evolution of respiratory function for 50 patients' cohort. The investigators would also take the opportunity to collect biologic samples in order to investigate genetic markers and to assess quality of life of patients by QoL-gNMD questionnaire. The investigators aim to build a database that will allow us to evaluate the effectiveness of a new therapy for adult SMA patients by studying the natural history of the disease. The investigators have distributed the various expertise in Work Package where several centers are involved. This study is original in that it evaluates the parameters of qMRI and MUNIX in correlation with blood biomarkers. To our knowledge, there are no quantitative MRI (spinal and muscular) biomarkers and/or electrophysiological (MUNIX technique) highlighted for tracking the progression of the adult form of SMA type III and IV. This pilot study would allow identification of predictive markers of the disease progression, and to have validated, sensitive to change and relevant measurement tools that could be used as endpoints in future therapeutic trials.
Study Testing Benefits of Ursolic Acid (UA) as a Countermeasure To Myopenia and Insulin Resistance...
Spinal Cord InjuriesTetraplegia5 moreThis study will evaluate if Ursolic Acid supplementation may be effective in reducing muscle loss and improving blood sugar control in the SCI community.
Effectiveness of Egg Versus Whey Protein Powder During Resistance Training
Muscle AtrophyConsumption of whole eggs has recently been shown to stimulate muscle protein synthesis to a greater degree than consumption of egg whites after a resistance training session. It is theorized that the egg yoke contains bio-active nutrients that enhance the protein provided by egg whites. The study will evaluate the effect of whole egg powder compared to whey protein powder and placebo over 12 weeks of resistance training in men and women who are participating in resistance training programs.
Assessment of the Efficacy of Carnipure® AAS on Body Composition, Muscle Thickness, and Strength...
Muscle HypotrophyThis study is a 12-week randomized active control trial that is investigating the effects of Carnipure(R) AAS on muscle hypertrophy, body composition, and muscular strength adaptations in healthy men performing a resistance training program.
Impact of Postprandial 'Exercise Snacks' on Protein and Glucose Metabolism Following a Period of...
InactivityPhysical10 moreThe purpose of this study is to assess the impact of 3-days reduced physical activity (<1500 steps/day) with/without 'exercise snacks' (15 chair stands with calf raises every 30 min) on skeletal muscle metabolic health.
The Impact of Energy Intake and Short-term Disuse on Muscle Protein Synthesis Rates and Skeletal...
Muscle AtrophyAging1 moreIn healthy middle-aged men and women, what is the effect of dietary energy restriction and energy surplus on daily muscle protein synthesis rates and muscle morphology, compared to energy balance, during free-living and immobilisation?
Effect of Percussive Massage on Skeletal Muscle During Limb Immobilization
Massage TherapyMuscular AtrophyThe primary aims of this study are to determine the effect of percussive massage (30 min/session, 2 sessions/day, daily) during 10 days of unilateral limb immobilization on preserving muscle, vascular, and mitochondrial function. The following hypotheses will be tested: Hypothesis 1: Percussive massage will attenuate the loss of size, strength and endurance over the immobilization period compared to the control group, as measured by MRI, maximal isometric and isokinetic force production and muscle endurance test using Biodex dynamometry. Hypothesis 2: Percussive massage will attenuate the loss of vascular function and blood flow compared to the control group as measured by passive leg movement and femoral artery blood flow. Hypothesis 3: Percussive massage will attenuate the loss of skeletal muscle mitochondrial function and decrease H2O2 production during immobilization compared to the control group, as measured by high-resolution respirometry.