Active clinical trials for "Muscular Diseases"

A brain-computer interface (BCI) decodes users' behavioral intentions or mental states directly from their brain activity, thus allowing operation of devices without requiring any overt motor action. One major modality for BCI control is based on motor imagery (MI), which is the mental rehearsal of the kinesthetics of a movement without actually performing it. MI-based BCIs translate motor intents into control commands for external devices. A major challenge in such BCIs is differentiating MI patterns corresponding to fine hand movements of the same limb from non-invasive EEG recordings with low spatial resolution since the cortical sources responsible for these movements are overlapping. In this study, the investigators hypothesize that neuromuscular electrical stimulation (NMES) applied contingent to the voluntary activation of the primary motor cortex through MI can help differentiate patterns of activity associated with different hand movements of the same limb by consistently recruiting the separate neural pathways associated with each of the movements within a closed-loop BCI setup. This is expected to be associated with neuroplastic changes at the cortical or corticospinal levels.

Objectives: To observe the effect of newly-created individualized upper airway muscle functional training on the condition and intraday symptoms of OSA patients; to study the effect of this training method on the excitability of the genioglossus muscle cortex; to analyze the factors affecting the efficacy of upper airway training in the treatment of OSA and screening suitable population for upper airway training: Design: A randomized double-blind controlled trial. SAS 9.3 statistical software (SAS Institute, Cary, North Carolina, USA) was used to generate a random number table, and the selected patients were randomly divided into experimental group 1, experimental group 2, and control group according to the ratio of 1:1:1 with 100 cases each. Unit: Shenyang, China Participants: Consecutive specific OSA patients, who are potential candidates for the treatment of upper airway training (n=300), will be recruited from a sleep center or respirologists, psychiatrists, otolaryngologists and dentists practicing with broad inclusion criteria (age: 20-75 years, AHI:15-50/h; BMI<40 kg/m2). Interventions: The three groups of subjects completed 7-day functional training and control training of upper airway muscles in different modes, respectively completed polysomnography, neck circumference, Berlin questionnaire and Epworth sleepiness scale before and after training, The genioglossus myoelectric activity was measured after transcranial magnetic stimulation and the excitability of the genioglossus cortex motor center was used to determine the efficacy of different training. After regression analysis, the factors affecting the efficacy of upper airway muscle group training were analyzed to screen the OSA patient population suitable for upper airway muscle group training.

This study's purpose is to measure the treatment response from efgartigimod PH20 SC compared with placebo in participants with Idiopathic Inflammatory Myopathy (IIM). Participants with the IIM subtypes of dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM), or certain other subtypes of polymyositis (PM; including antisynthetase syndrome [ASyS]) will be included in the study. Treatment response will be measured by Total improvement score (TIS). Additional information can be found on https://myositis-study.com/.

Positive effect of physical activity on health arouses a strong interest at international level and is developped within the scope of national programs. Recommandations exist but must be designed for patients with functional limitations of activities. Patients with mitochondrial diseases have exercice intolerance with an increase of muscular weakness and fatigue after low exercice volume. Theses patients have functional limitations of activities. In order to establish an appropriate training programme, it will be important to define and consider the physical condition. The Society of Mitochondrial Medecine published recommandations for management of theses patients,However, theses recommandations do not allow them to propose a training program of what can be done. For these vulnerable patients, therapists are responsible fo advising a training programm without guidelines to establish its terms and conditions. In addition, some exercices do not appear to have been the subject of complete assessmeents. Regarding training programs (aerobic training, muscle reinforcement, miwed training), scientific literature shows a significant genetic and clinical variabilities, as well as a lack of data on clinical severity of included patients. In addition, the lack of informations regarding training effects of heteroplamy level limits our comprehension of mechanisms involved in adaptation of mitochondrial pool during training. Therefore, further reserchs on this subject are essential. It is necessary to offer these patients a follow-up and personalized training program, which are in adequation with daily life. Some publications call on specifics concepts which are not compatible with day-to-day life. The investigators think it will be useful to investigate training effects in order to have practival conclusions, easily reproducible at home by patients with simple and inexpensive equipment. In this context, video consultation could allow the close follow-up of these patients. The investigators hypothesize that a mixed training (endurance and muscle reinforcement), personalized, at home and followed by video consultation have positive effects on some physical criteria (such as musclar strength, tolerance to effort, functional abilities) without increasing heteroplasmy and creatine phosphokinase levels.

This study is designed to evaluate the long-term safety and tolerability of REN001 administered once daily to subjects with PMM due to mitochondrial DNA mutations (mtDNA-PMM) or nuclear DNA mutations (nDNA-PMM). Subjects with mtDNA mutations will have previously completed Study REN001-201 or participated in Study REN001-101. Subjects with nDNA mutations who enroll in this study will be REN001- naïve.

Congenital myopathies (CM) is a large group of muscle disorders, presenting with hypotonia and non-progressive generalised muscle weakness, which can lead to motor developmental delay.More than 20 genes can cause CM and currently there is no curative treatment for this disorder. Case reports and a smaller study have previous reported that oral salbutamol has benefited subjects with different types of congenital myopathies by increasing their muscle strength.The exact effect of salbutamol in muscle cells isn't exactly known but it has been hypothesized to have an anabolic effect by triggering different pathways inside the muscle cells which increase cell proliferation, decrease apoptosis, decreases proteolysis and increases protein synthesis. The aim of our study is evaluate if daily oral salbutamol can increase the muscle function and muscle strength in these patients after 6 months on treatment, compared to no treatment.

The purpose of this study is to investigate the impact of expiratory muscle strength training (EMST) on the swallowing, breathing, oral intake, quality of life and cough function of people with oculopharyngeal muscular dystrophy (OPMD).

Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM). There is currently a growing number of potential new treatments to be tested through MM clinical intervention trials, which has created a pressing need for quantitative biomarkers that reliably reflect MM disease severity, progression, and therapeutic response. The purpose of the study is to measure the efficacy of an electrochemical oxygen nanosensor to measure in vivo mitochondrial function in human muscle tissue, and its ability to discriminate MM patients from healthy volunteers. The data and results from this nanosensor study may contribute to current and future research, including improved diagnostic and therapeutic approaches for patients with mitochondrial disease.

Systemic autoimmune myopathies are a heterogeneous group of rheumatic diseases that primarily affect the skeletal muscles. The transcranial direct current stimulation technique has been frequent, for example, in patients with ischemic stroke or for the optimization of muscular performance in athletes. However, to date, there are no studies evaluating this technique in patients with systemic autoimmune myopathies. Therefore, the main objective of the present prospective, randomized, double-blind, placebo-controlled study is to evaluate the safety and efficacy of the application of acute transcranial current stimulation session in patients with systemic autoimmune myopathies.

The goal of this clinical trial is to test ketone bodies in healthy elderly and young individuals. The main question it aims to answer are: • Do ketone bodies improve skeletal muscle function? Participants will ingest a ketone monoester and skeletal muscle function will then be evaluated by: Special magnetic imaging techniques Intravenous infusion of tracer-marked nutrients Performance tests on a ergometer bike and in a dynamometer Researchers will compare the outcomes between within the young and elderly groups and between the young and the elderly group to investigate if age has an effect on the outcomes.