View clinical trials related to Muscular Atrophy.
Filter by:Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.
The study purpose is to investigate the hypothesis that in adults with SAH, early neuromuscular electrical stimulation (NMES) and high protein supplementation (HPRO) will improve muscle mass, metabolic and inflammatory biomarker profiles, compared to SAH controls receiving standard of care interventions for nutrition and mobilization. The investigators will accomplish this by studying the effects of a high protein (HPRO) nutritional treatment as well as NMES intervention have upon muscle wasting and motor strength acutely after SAH. This will be addressed in a prospective trial of SAH patients receiving HRPO with NMES as compared to age and severity-matched SAH patients undergoing standard of care interventions for nutrition and mobilization. Additionally, the study will investigate the impact HPRO and NMES interventions have upon inflammatory cytokines and markers of energy balance. Results of this study will establish evidence for precision nutrition plus early exercise to mitigate the catabolic and inflammatory state produced by SAH to improve muscle, metabolic, and health recovery outcomes.
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease of motor neurons. In the early 1980s, Werdnig from Vienna University and Hoffman from Heidelberg University described this disorder. So SMA type 1 was named Werdnig- Hoffman disease. This is the first genetic disorder that cause death after cystic fibrosis in infants with the prevalence of 1 in 6000 birth. Mutation in the SMN1 gene (Survival Motor Neuron) is the reason for the disease that cause decrease in the SMN protein production. So the alpha motor neurons in the spinal cord ventricle horn will be destroyed and it cause progressive paralysis and defenite death.No specific therapy is yet available for the treatment of Werdnig-Hoffmann disease. Treatment is not disease-modifying and just is supportive. SMA type 1 is diagnosed within the early 6 month after birth and accompanied with breath disorders and definite death in 2 years. The affected infants have a weak muscle tone and they couldn't even hold their head up. Perhaps the only open way for these patients is the application of stem cells that could deliver trophic factor to the apoptotic cells. So this study focuses on the effectivness of cell therapy via adipose derived mesenchymal stem cells on the probable phenotypic changes in these patients.
SPOT SMA is a prospective NIH-supported clinical study targeting pre-symptomatic or recently diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3 and their healthy control siblings less than 36 months of age at the time of study enrollment. The main objective of the study is to prospectively collect longitudinal clinical outcomes and provide counseling and education to parents of newly diagnosed children. The study will assess the impact of current standard of care management paradigms and interventions on health outcomes in newly diagnosed SMA infants and children with type 1, 2 or 3 and age appropriate controls. There is no investigational drug and no specific intervention in this study. Rather, the investigators will document outcomes related to current therapies provided to participating subjects, and will educate participants about possible clinical trial opportunities.
The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.
Objectives: 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.
Neuromuscular electrical stimulation in pectoral muscles (fibres of the pectoralis major muscle bilaterally) and rectus abdominis muscles (bilaterally) preserves / decreases the loss of muscle mass.
Ambulation would bring many physiological and psychological benefits and getting up and walking has been a dream for paraplegia patients.The reciprocating gait orthoses (RGOs) for paraplegics particularly draws research attentions because it mimics human gait pattern.But, the high energy consumption and low walking speeds caused the frequent abandonment or the low utilization of the reciprocating gait orthoses.To improve the design reducing the energy expenditure, it requires biomechanical analysis of the pathological gait such that the gait deviations and energy consuming mechanisms can be identified and remedial means can be implemented. The investigators hypotheses will include that there would exist an energy saving mechanism of human reciprocating locomotion based on the principle of conservation of mechanical energy.Secondly, kinematic and kinetic gait determinants could be derived from the energy saving mechanism. Finally, the control of knee joint coordinating with the hip joint movements would facilitate the gait progression and further reduce the energy consumption. The objective of this clinical trial is to evaluate the gait of paraplegic patients with reciprocating gait orthoses and to support the investigators research in biomechanical analysis, design and control of reciprocating gait orthoses for paraplegia patients. An experiment to study the pathological gait of paraplegia patients with an existing reciprocating gait orthosis will be carried out.
Chronic Obstructive Pulmonary Disease (COPD) is the most common pulmonary disease, responsible for considerable morbidity and mortality and is the third leading cause of death worldwide. As well as its consequences in the lungs, COPD is well recognized to be associated with a range of important systemic consequences and co-morbidities. Interestingly, skeletal muscle dysfunction is noted in both early and advanced disease, suggesting its origins may not be wholly pulmonary. Treatment strategies targeting lung function are, unfortunately, of limited value. Given the burden of disease, it is becoming increasingly important that investigative and therapeutic work now focuses on other systemic characteristics and sequelae which define the disease phenotype. This is a randomized controlled trial of the effect of 14 days of voluntary reduced activity on muscle mass, muscle strength, body composition, and atrophy signalling in patients with COPD and age-matched controls. The primary hypothesis upon which this study is based is that a short reduction in ambulation will induce a transient reduction in quadriceps muscle mass, quadriceps strength and physical performance in patients with COPD compared to matched COPD patients whose mobility has not been restricted. The secondary hypothesis is that the magnitude of the above changes will be greater in physically inactive COPD patients compared to physically inactive age-matched controls. The overall aim of this research is to use an in vivo human model of 14 days of voluntary reduced physical activity to test the above hypotheses. If the model proves feasible, this will allow for earlier proof of concept studies of novel therapeutic agents.
As a function of the growing population of older adults, an estimated 3.48 million total knee arthroplasty (TKA) procedures will be performed annually in the U.S. by 2030. Despite the near-universal success of this surgery in mitigating chronic knee pain, TKA is not successful in restoring long-term physical function in older adults, primarily because of quadriceps muscle atrophy, which explains 77% of the strength deficits. Overall, strength and functional mobility in TKA patients is 30-50% below age-matched healthy controls. Functional tasks such as stair-climbing remain a clinical problem for 75% of patients following TKA. Muscle atrophy occurs in both operative and non-operative legs, and is essentially permanent for older patients because of their impaired ability to increase muscle mass. The purpose of this clinical research is to determine the effects of essential amino acid (EAA) supplementation on muscle mass, strength, and functional mobility following TKA in older adults. Based on strong preliminary data, the investigators hypothesize that twice-daily ingestion of 23 g of EAA for 1 wk before through 6 wk after TKA will increase basal rates of muscle protein synthesis via inactivation of catabolic signaling, and up-regulation of anabolic and cyto-protective proteins. The investigators further hypothesize that short-term atrophy prevention and accelerated return of functional mobility will lead to longer-term structural and functional adaptations, and improved quality of life in older TKA patients vs. Placebo. Identifying the mechanisms up-regulated by EAA treatment that preserve muscle volume and mobility will have a major impact on rehabilitation science. This study will accomplish two specific aims: (1) determine if EAA elevates basal rates of muscle protein synthesis by up-regulating anabolic pathways and cyto-protective proteins, and inactivating catabolic pathways in the short term vs. Placebo and (2) determine if short-term prevention of atrophy, weakness, and functional mobility leads to positive changes in muscle cell structure and function, and improved quality of life in the longer term vs. Placebo. This work is significant because it advances knowledge of the molecular and cellular changes occurring during muscle atrophy (Placebo) and atrophy prevention (EAA) in a clinical setting using a treatment that is broadly applicable, is well tolerated, and can be implemented immediately.