Active clinical trials for "Muscular Atrophy"

Patients in rehabilitation may undergo periods of prolonged limb immobilization in response to injury, surgery, or illness. Due to disuse, the size and strength of muscles controlling the affected limb can decrease significantly, possibly resulting in physical impairment or lower quality of life during the recovery phase. Prior immobilization studies have shown that the rate and degree of decline in muscle strength exceeds that of muscle size, indicating that determinants of muscle strength unrelated to muscle size may further contribute to functional changes during immobilization. The purpose of this study is to describe the changes in muscle strength, muscle size, corticospinal excitability, voluntary activation, M1 cortical thickness, and resting state functional connectivity following a 2-week limb immobilization period in young women.

This investigation aimed to compare the response of older adult and young men to 14 day bed-rest and subsequent 28 day rehabilitation. Sixteen older (OM: 55-65 years) and seven young men (YM: 18-30 years) were exposed to 14-day bed rest (BR) followed by 14-day rehabilitation (R), and 400-day of R. Quadriceps muscle volume, force and explosive power of leg extensors, single fiber isometric force, peak aerobic power, gait stride length, and several metabolic were measured before and after BR and after R.

NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well as determine the best outcome measures for further therapeutics approaches.

Spinal muscular atrophy is a genetically based disease that affects motor neurons in the spinal cord and leads to muscle wasting and weakness. The gene found to be responsible for the underlying disease is called the SMN or survival motor neuron gene. Individuals with SMA are either missing a copy of the gene or have a mutation in the gene. Although the gene has been identified, how it actually causes the motor neurons to die and leads to muscle wasting and weakness is not completely understood. The investigators have found that skin cells from children with SMA tend to be more susceptible to cell death when exposed to cell death inducing agents. In this protocol, The investigators wish to study the mechanisms by which these cells die when exposed to these agents and how this may be related to the gene defect and the disease.

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.

The primary aim of the study is to evaluate consequences of frailty in critically ill patients. We hypothesize that a higher frailty index (based on published questionnaires) predicts a longer surgical intensive care unit and hospital length of stay, less ventilator-free days and a higher likelihood of an adverse discharge disposition. Our secondary aim is to identify muscle-size derived variables that can be used to predict frailty. We hypothesize that a low skeletal muscle mass measured by ultrasound can be used to quantify frailty, and to also predict the outcome of SICU patients, expressed as longer stay in the surgical intensive care unit and longer stay in the hospital, less ventilator-free days and a higher likelihood of an adverse discharge disposition. Our third aim is to examine potential triggers of muscle wasting in critically ill patients. Muscle wasting will be assessed by repetitive ultrasound measurements of muscle mass. We hypothesize that a significant decrease in skeletal muscle mass predicts longer stay at the surgical intensive care unit and longer hospital length of stay, less ventilator-free days and adverse discharge disposition.

This non-drug, single center, 24-week, longitudinal study in ambulant spinal muscular atrophy (SMA) patients and in age- and gender-matched healthy volunteers will assess the detection of disease progression by magnetic resonance imaging (MRI) and the Muscle Function Measure (MFM) test. Each participant will be evaluated in three testing sessions: at baseline, at Week 12 and at Week 24. Both patients and volunteers will undergo MRI scans. Patients will additionally undergo testing of motor function and have blood samples taken for Survival of the Motor Neuron (SMN) genes, proteins and mRNA analysis.

The goal of this pilot study is to identify a marker or panel of markers in the blood or urine from a wide range of Spinal Muscular Atrophy (SMA) patients that segregates with measures of clinical severity. From this identification of candidate biomarkers, it is hoped that further investigations, both longitudinal natural history and clinical efficacy studies, will verify a biomarker with the sensitivity and specificity that will allow its eventual use as a validated pharmacodynamic marker or surrogate endpoint. In addition, this effort may elucidate biological pathways that may be potential therapeutic targets.

Background: Spinal muscular atrophy (SMA) is a degenerative and incurable neuromuscular disorder that is caused by mutations in the survival motor neuron gene, SMN1, found on chromosome 5. It is the leading inherited cause of infant mortality. SMA carriers (those who have the genetic mutation but do not have the disease) are often unaware of their status until they are tested. Researchers have been studying the prevalence of SMA carriers in the general population, but most of the information collected has come from populations within the United States, Europe, and Asia. Very few studies have been performed in Africa. Furthermore, this information does not provide much information regarding carrier frequency based on ethnic background and ancestry. To address this problem, researchers are interested in studying the prevalence of the SMA genetic mutation in the sub-Saharan nation of Mali. Objectives: - To collect blood samples for use in studying genetic data related to spinal muscular atrophy. Eligibility: Healthy volunteers who are at least 18 years of age. Volunteers will be of Malian ancestry and nationality. Study Location: -<TAB>Bamako, Mali, West Africa Design: The study will first collect blood samples from a small group of volunteers to run initial SMA carrier testing and resolve any technical difficulties before continuing with the study. Participants will complete questionnaires about their personal and family medical history, including questions about illnesses, stillborns, and miscarriages, and then will provide blood samples for genetic research and testing.

Nusinersen (Spinraza, Biogen Inc, Boston, MA), the first treatment approved by FDA and EMA for all Spinal Muscular Atrophy (SMA) subtypes, is an antisense oligonucleotide that is administered intrathecally through a lumbar puncture. This procedure can be challenging in some adults with intermediate and late onset SMA (types II-IV) frequently presenting scoliosis secondary to neuromuscular weakness and often treated with spinal instrumentation to prevent worsening deformities. In such patients, in order to access the intrathecal space, US guidance and/or assistance have been recently proposed as useful and successful tool. The US guidance and/or assistance have been associated to a high success rate, a reduction of number of attempts and needle passes to obtain a successful anesthesia. A reduced risk of adverse events (AEs), such as post dural puncture headache (PDPH) and low back pain (LBP), and low patient satisfaction often associated with multiple needle punctures was also reported. Aim of this retrospective study was to report the efficacy, evaluated as rate of the successful procedures and subsequent delivery of nusinersen within the subarachnoid space, the number of attempts, the procedure time and the adverse events (AEs) of interlaminar intrathecal nusinersen administration using either ultrasound assistance or the landmark-based technique in a historical cohort of 51 adult SMA patients.