View clinical trials related to Muscular Atrophy.
Filter by:The objective of this study is to assess the safety and tolerability of Risdiplam (RO7034067) in healthy people. The study will assess what the body does to Risdiplam (RO7034067) and what Risdiplam (RO7034067) does to the body. Risdiplam (RO7034067) will be given by mouth in gradually increasing doses. The data from this study will help to define the dose to further explore Risdiplam (RO7034067) in patients with Spinal Muscular Atrophy.
The purpose of this open-label, single arm study is to further evaluate long-term tolerability, safety and efficacy outcomes of olesoxime in participants with Spinal Muscular Atrophy (SMA) who previously participated in one of the following two clinical studies: TRO19622 CL E Q 1115-1 (open-label Phase Ib, multicenter, single- and multiple- dose study) or TRO19622 CL E Q 1275-1 (NCT01302600, Phase II/III, adaptive, parallel-group, double blind, randomized, placebo-controlled, multicenter, multinational study).
The primary objective is to evaluate the long-term safety and tolerability of nusinersen (ISIS 396443) administered by intrathecal (IT) injection to participants with Spinal Muscular Atrophy (SMA) who previously participated in investigational studies of nusinersen. The secondary objective is to examine the long-term efficacy of nusinersen administered by IT injection to participants with SMA who previously participated in investigational studies of nusinersen.
Creation of a large repository of induced pluripotent stem cells (iPSC), bio-fluid samples (blood and spinal fluid (optional)), and cell lines for ALS gene identification. This will be combined carefully with collected measures of the pattern of the symptoms people with ALS have and how these change over time. People with other motor neuron diseases and healthy controls will be included as comparisons
One third of independent older adults over the age of 65y will be hospitalized for an acute medical illness, injury, or operative procedure. Unfortunately, 50% of these older adults will experience functional decline during their hospital stay from the amount of time they are physically inactive and in bed. Following discharge, the functional deficits can persist for months and in many instances never return to pre-hospitalization levels thus compounding morbidity, health care costs and dying. A classic consequence of short-term bed rest in older adults is the significant loss in skeletal muscle mass which underlies the accelerated leg strength deficits. The investigator has shown that an important mechanism of skeletal muscle loss is the inability of nutrients to stimulate a normal muscle protein synthesis response; a process highly regulated by the mammalian target of rapamycin signaling pathway (mTOR) and amino acid transporters. Day to day maintenance of force generating muscle tissue is dictated by anabolic stimulation from muscle contraction and essential amino acid ingestion. Therefore, anabolic interventions such as neuromuscular electrical stimulation (NMES) and high quality protein supplementation that contains a high proportion of essential amino acids (whey protein) may be promising approach to maintain leg muscle mass and strength in hospitalized older adults and prevent the long term consequences of repeated periods of short-term physical inactivity. The purpose of this study is to test in older adults if the combination of NMES and protein supplementation is capable of preserving muscle mass and strength and maintaining muscle nutrient anabolic sensitivity during bed rest. The investigators current hypotheses are that daily NMES and protein supplementation during 5-days of bed rest in older adults will: 1) preserve lower extremity muscle mass and strength and 2) maintain muscle nutrient anabolic sensitivity as measured by mTOR signaling and amino acid transporter expression. The long term goal is to utilize this inpatient preventative therapeutic approach in a clinical setting in which muscle mass and strength deficits are profound (e.g., intensive care patients).
Intensive care unit acquired muscle weakness (ICUAW) is a common disease. After 7 days of mechanical ventilation, a quarter of patients develop an ICUAW responsible of a 15-20% of muscle loss. This is a serious pathology associated with high morbidity and mortality. Clinical diagnosis of ICUAW is difficult and need a patient awoken. CT scan and Magnetic Resonance Imaging (MRI) are considered as "gold standards" to quantify and monitor changes in muscle mass. But these tools are not adapted to ICU patients. Ultrasound (US) is an easy access tool at the bedside to assess muscle mass and does not expose the patient to additional radiation. The objective of this study is to evaluate the correlation between US and CT scan to measure quadriceps muscle thickness of ICU patients.
Aim of the present study is to determine whether muscle mass as assessed by bioelectrical impedance analysis correlates with and corresponds to muscle mass as assessed by CT scan analysis in critically patients admitted to the intensive care unit.
Muscle size declines at around 0.5-1% per year after 50 years of age, with muscle strength declining up to twice as fast as muscle size. This may eventually lead to loss of independence if tasks of daily living become too strenuous to be performed safely. Short periods of bed rest cause very rapid loss of muscle size and strength, and studies using healthy older participants have shown that age increases vulnerability to this muscle loss. However, it is unlikely that healthy individuals would be faced with periods of bed rest unless suffering a severe illness. In light of this, recent evidence has shown that even just reducing walking to less than 1,500 steps per day for two weeks caused 4% loss of leg muscle in over 65 year olds. This amount of activity is roughly the equivalent of being housebound, something that may become more common into older age, for example due to prolonged bad weather, or minor injury or illness. This study will investigate what causes such stark muscle loss during two weeks of reduced activity, and the impact on skeletal muscle function and size, as well as balance, body composition, and other indicators of general health such as how the body responds to food or exercise. Importantly, exercise strategies that could reduce muscle loss during a period of reduced activity will also be investigated. In brief, three groups of 10 older men (aged 65-80 years) will undertake two weeks of reduced physical activity by limiting their daily steps to <1,500/day. All groups will then undertake a re-training exercise programme to ensure that any losses in muscle strength or size are regained. One of the groups will be a control, whereby they will undertake the step-reduction intervention and re-training, but no protective exercise before or during the step-reduction intervention. This group will allow us to achieve our primary objective of determining the influence of two weeks of reduced physical activity on muscle strength and size in healthy older males. The two other groups will undertake either four weeks of strength exercise training before the step-reduction intervention, or daily home based exercise 'snacking' during the step-reduction intervention. The potential protective benefits of the exercise interventions in reducing the impact of two weeks of reduced activity on muscle strength and size, and any effect on how muscle is re-gained afterwards, will be compared to the 'control' group.
This study aims to determine whether vitamin D3 supplementation is any more effective in improving musculoskeletal function when combined with exercise training compared with exercise training alone.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations of the survival motor neuron 1 (SMN1) gene. The investigators will conduct a systematic review of the contents and activities collected via a comprehensive case report form. Patients who fulfilled diagnostic criteria for SMA type 1 will be reviewed retrospectively.