View clinical trials related to Muscular Atrophy.
Filter by:The 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.
The purpose of this study is to investigate if a person with weakness or paralysis in one or both arms, can use the NuroSleeve combined powered arm brace (orthosis) and muscle stimulation system to help restore movement in one arm sufficient to perform daily activities. This study could lead to the development of a product that could allow people with arm weakness or arm paralysis to use the NuroSleeve and similar devices to improve arm health and independent function.
The major aim of this project is to assess comprehensively frequency and extent of dysphagia and bulbar dysfunction in SMA1, 2, and 3 patients by applying FEES and validated dysphagia scores. Further aims are to follow changes of dysphagia over time in newly diagnosed patients, and in subjects starting treatment with one of the new therapeutic SMA drugs. Special attention will be paid to subjects treated with Risdiplam. If applicable, the data will be compared between groups receiving different drugs.
In a randomised placebo-controlled trial assess effects of zoledronic acid for prevention of bone and muscle loss after bariatric surgery.
The "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.
Spinal 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.
The purpose of this study is to evaluate post-operative outcomes after meniscus surgery in participants undergoing blood flow restriction training as a rehabilitative adjunct compared to those with standard rehabilitation.
The series of the 3-year study aims to explore parents' experience of caring for a child's weight change among parents of children and adolescents with cancer, examine the associations and trends among muscle wasting and health-related variables, and then implement and assess effectiveness of a multidisciplinary approach with a personalized physical activity (walking) training intervention on improving muscle mass and other health-related variables.
The primary objective is to evaluate the safety of nusinersen sodium injection in the postmarketing setting in Korea. The secondary objective is to evaluate the effectiveness of nusinersen sodium injection in the postmarketing setting in Korea.
Spinal muscular atrophy (SMA) is a form of motor neuron disease, most commonly caused by a mutation in the survival motor neuron 1 gene (SMN1) which results in a wide disease spectrum affecting children and adults. It is an autosomal recessive disorder and is therefore caused by inheritance of a mutated gene from each parent. All forms of SMA have an estimated combined incidence of 1 in 6,000 to 1 in 10,000 live births, with a carrier frequency of 1/40 to 1/60. The patient registry aims to facilitate a questionnaire-based research study in order to better characterise and understand the disease in the UK and in Ireland. Entry is via self-registration over a secure internet connection (https://www.sma-registry.org.uk/). Online, patients are asked to read an information sheet about the research project and then indicate their consent to demonstrate willingness to participate. Following online consent, subjects will be entered into the registry. This is an on-going database and all participants are invited to update their information on a biannual basis.