View clinical trials related to Muscular Atrophy.
Filter by:Patients with spinal muscular atrophy who are wheelchair users often experience lower back - and gluteal pain, reduced sleep quality, constipation and reduced quality of life - symptoms that regular exercise could potentially alleviate. However, only very little research has been done on exercise for patients who are wheelchair users. The aim of this study is to explore the impact of cycle exercise on patients with spinal muscular atrophy.
Skeletal muscle plays a critical role in supporting human health. Beyond its role in providing the force to move, skeletal muscle accounts for a large proportion of metabolic rate, glucose disposal, and amino acid storage. Skeletal muscle is dynamically regulated by environmental stimuli, such as loading (i.e., resistance training]) and unloading (i.e., disuse atrophy) as well as the intake of essential amino acids (EAAs). However, the precise mechanisms that regulate skeletal muscle mass in response to various conditions (e.g., EAA supplementation, resistance training, and unloading) are not completely understood. Therefore, concerted efforts to better understand the mechanisms regulating skeletal muscle size are needed that aid in the development of therapeutic interventions to combat age, disease, and disuse related muscular atrophy.
With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years. The investigators also propose to evaluate potential assessment tools to determine whether they are relevant for monitoring this population, either routinely or for future clinical trials. The investigators also aim to collect the total costs associated with ASI in order to propose a first prospective medico-economic study in France.
Substantial variability exists in the onset, and rate of degeneration across individuals with Motor Neurone Disease (MND) or Amyotrophic Lateral Sclerosis (ALS). This variability requires biomarkers that accurately classify and reliably track clinical subtypes as the disease progresses. Degeneration occurs in the brain and spinal cord, however, non-invasive diagnosis of spinal cord function remains highly challenging due to its unique alignment in spine. Disruption of complex spinal and cortical circuits that transmit and process neural signals for position sense and movement has not been adequately captured in the neurophysiological profiling of ALS patients. The overarching aim of this study is to reveal and quantify the extent of change in the sensorimotor integration and its potential contribution to network disruption in ALS.
This is a single-session, case-control study that incorporates digital tools for assessing speech and motor function in motor neuron disease. Patients with motor neuron disease (including amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), and progressive muscular atrophy (PMA)) and age-matched healthy controls will be enrolled. Subjects will complete a speech and handwriting assessment during the study visit on a tablet computer (BioSensics LLC, Newton, MA). We will explore whether these digital biomarkers are sensitive to functional disease severity as reported by the ALS Functional Rating Scale - Revised (ALFRS-R) [1]. We will also compare assessment data between the patient and control groups.
Spinal muscular atrophy (SMA) is a group of disorders caused by the degeneration of the motor neuron cells of the anterior horn of the spinal cord and, in some subtypes, of the bulbar motor neurons. Almost all cases are genetically determined. Most SMAs are autosomal recessive diseases, caused by homozygous deletions of the survival motor neuron (SMN) gene located on the long arm of chromosome 5. The estimated incidence of recessive childhood and juvenile SMA linked to deletion of the SMN gene is 1 in 6000 to 10000 live births, with a carrier frequency of 1 in 35 in the general population, making it a major genetic cause of infant mortality. Up to 95-97% of all childhood cases are due to homozygous deletions of the survival motor neuron 1 (SMN1) gene, or telomeric SMN, located on chromosome 5q11.2-13.3. The remaining 3-5% of cases are due to small mutations in SMN1 (rather than complete deletions). Until a few years ago, the prognosis of type 1 SMA was poor. In the absence of therapies, the only measures were supportive (ventilation, nutrition) and the prospect, especially in the early forms, was to accompany them towards an early end of life. There are currently three treatment options available: nusinersen, risdiplam, and gene therapy with onasemnogene abeparvovec. The three options were found to be equally effective in reducing the symptoms of the disease, making it possible to reach or safeguard fundamental stages in a child's neuromotor development, starting from the ability to remain seated. At this moment, gene therapy is probably the preferred choice. To date, in Italy, there are approximately 100 patients undergoing gene therapy. To ensure maximum benefit for affected patients, it is essential that the therapy is administered as soon as possible. Literature shows how the administration of gene therapy in pre-symptomatic subjects made it possible to achieve a better neurological outcome compared to symptomatic patients. From this perspective, the inclusion of spinal muscular atrophy in neonatal screening is of fundamental relevance.
Spinal cord stimulation (SCS) has shown remarkable efficacy in restoring motor function in people with spinal cord injury by recruiting afferent input to enhance the responsiveness of spared neural circuits to residual cortical inputs. This pilot will test if SCS can show evidence to improve motor deficits in people with Type 2, 3, or 4 spinal muscular atrophy (SMA). The investigators will enroll up to six subjects with Type 2, 3, or 4 SMA aged 16 or older that show quantifiable motor deficits of the upper body. The investigators will then implant the subjects with percutaneous, linear spinal leads near the cervical spinal cord for a period of up to 29 days. Although these leads are not optimized for motor function but rather for their clinically approved indication of treating pain, the investigators believe they provide a safe technology enabling our team to perform scientific measurement necessary to evaluate potential for effects of SCS in motor paralysis with SMA. After the end of the study, the leads will be explanted.
This is an interventional study to evaluate safety and efficacy of AAV-hSMN1 in spinal muscular atrophy patients.
This study aims to determine, via skeletal muscle ultrasound (US), the extent, timing and relationship between skeletal muscle mass loss and outcomes after orthotropic heart transplantation (OHT) and left ventricular assist device (LVAD) implantation amongst patients with cardiogenic shock. Advanced therapies such as OHT and VADs in the heart failure (HF) population may promote skeletal muscle mass and subsequent quality of life, but there is a lack of literature assessing muscle mass changes in HF patients before and after advanced therapies using US imaging. Therefore this observational study will provide further insight into the 1) changes in lean body mass during critical illness and 2) the feasibility of using bedside US to assess lean body mass in the inpatient setting.
The objective of this multicenter randomized controlled trial is to compare a 6-month exercise and nutrition intervention (intervention group, IG) aimed at maintaining or improving physical functioning and quality of life with usual care (control group, CG) in ovarian cancer patients. The main question it aims to answer is: • Can an exercise and nutrition program improve physical performance during and after active treatment for ovarian cancer? Participants of the IG will undergo: - Weeks 1-18: approximately 15-30 minutes of daily exercise (cardio, resistance, and balance exercises); nutritional counseling focusing on malnutrition (protein-energy malnutrition). - Weeks 19-25: More intense daily training; nutritional counseling focusing on the Mediterranean diet. The study design includes 3 survey time points: - Baseline: After surgery and before starting chemotherapy - T1: After chemotherapy (week 19) - T2: After intervention (week 26) The primary outcome is: • 6-minute walk test, 6 months after enrollment (T2)