View clinical trials related to Muscular Diseases.
Filter by:Systemic sclerosis and inflammatory myopathies, which sometimes combine (scleromyositis), have shared pathophysiological elements. In both diseases, many cell subtypes are involved in damage to organs such as T lymphocytes, B lymphocytes, and unconventional (non-B, non-T) lymphocytes called innate lymphoid cell (ILC). The increasing complexity of our understanding of the immune system (multiplication of recognized cell subtypes) also makes the strategies for analyzing pathophysiological mechanisms more complex. Currently, no biomarker perfectly predicts the phenotype and evolution of patients. Multi-OMIC analyzes will be performed (identification of cell populations as well as genomic, transcriptomic and proteomic characterization) in blood and tissue samples (skin and muscle biopsy) in patients with systemic sclerosis and inflammatory myopathies, with the objective of identifying discriminating molecular signatures (biomarkers) according to the characteristics of the disease and its evolution.
This is a phase 1 / 2, randomized, double-blinded, single cross-over study, with a washout period between treatment regimens, to test the efficacy and safety of tamoxifen therapy to improve motor and respiratory function in males with XLMTM.
Recent evidence regarding the novel coronavirus disease 2019 (COVID19) is growing in describing the characteristics of this disease, with main focus on lung morphology. Few data are available regarding the peripheral and respiratory muscular characteristics. Using a ultrasound greyscale analysis, It Is possibile to evaluated the muscle quality. The hypothesis of this studi is that a combined assessment of respiratory (i.e., intercostal and diaphragm) and peripheral (i.e., quadriceps) muscles quantity (as measured by thickness) and quality (as assessed by greyscale analysis), would reflect the severity of illness. Thus,the aims of this study are to assess if the quality characteristics of parasternal intercostal, diaphragm and quadriceps muscles of ICU COVID19 patients influenced the outcomes and are correlated with other variables, such as fluid or protein balance, or indexes of inflammation
Serum creatinine kinase (CK) level varies with age, gender, race and physical activity. For these reasons there is no normal serum CK level. Many pathological situations cause hyperCKemia, such as neuromuscular disorders (muscular dystrophy, inflammatory myositis, mitochondrial myopathy) and multiple systemic causes. The diagnostic approach to pauci or asymtomatic hyperCKemia can therefore be difficult and lead to multiple, and sometimes invasive tests, such as muscle biopsy. This study aims to describe the diagnoses associated with persistent elevation of serum creatine kinase and to precise the role of the muscule biopsy.
To evaluate specific characteristics of phenotype, immune status, molecular and genetic as well as morphological characteristics of adult patients with limb-girdle muscular dystrophy R2 in various regions of the Russian Federation.
This study corresponds to a monocentric prospective cohort of adult patients presenting a suspicion of idiopathic inflammatory myopathy. It will allows the constitution of an organized collection of longitudinal clinical data as well as collection of biological samples, including blood sample, urine, stool and muscle specimen.
There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety and tolerability as well as pharmacokinetics (PK), pharmacodynamics (PD) and preliminary efficacy of DYN101 in participants 2 to 17 years of age with CNM caused by mutations in DNM2 or MTM1.The trial will consist of a pre-screening consent, a screening period, a run-in period (if applicable), and a Part 1 of 12 weeks with weekly infusion of DYN101 to evaluate safety and tolerability as well as PK, PD and preliminary efficacy. The dose level may need adjustment based on the Part 1 results of the current study and available data from the Unite-CNM study (DYN101-C101, NCT04033159). If a dose adjustment is needed, Part 2 will be conducted in the same participants and the newly selected dose level will be used to assess whether efficacy is seen after an additional 12 weeks of treatment. As this trial is investigational, there is no defined, expected benefit for subjects who participate in this trial except a better knowledge of their disease.
Bullying is an epidemic in Canada, and rates may be underreported. Youth with a disability were more likely to be bullied that those without disabilities, specifically if the disability was visible. Research has been conducted on the prevalence and effects of bullying in youth with disabilities such as cerebral palsy, obesity, and chronic pain; however, there is a paucity of research involving youth with muscular dystrophy and congenital myopathies. The objectives of this study are to: (1) measure bullying frequency, (2) describe the types of bullying experiences; and (3) explore barriers and facilitators to dealing with bullying by youth with muscular dystrophy or congenital myopathies and their parents. The objectives will be met by an online survey and qualitative interviews of youth with muscular dystrophy and congenital myopathy and their parents.
Atrial myopathy is considered to be the underlying cause of a large proportion of embolic strokes of undetermined source. However, the definition of this atrial condition is not well delineated while its identification could lead to prescription on anticoagulation in order to avoid stroke recurences. This study aims to identify new markers of atrial myopathy and choosed a multi parametric approach with electrical, echographical, biological and 4D flow CMR derived markers.
Critical illness myopathy (CIM) is a disabling condition that develops in critically ill patients. The syndrome is not only a cause of prolonged intensive care hospitalisation but also a main reason for delayed recovery. Critical illness myopathy presents as diffuse muscle weakness and failure to wean from mechanical ventilation. The pathogenesis of CIM is unclear. The proposed mechanisms for critical illness myopathy include muscle membrane depolarization, circulating depolarizing factor, and an endotoxin that reduces muscle sodium channel availability at depolarized membrane potentials. The electrophysiological diagnosis of CIM diagnosis is done by electromyography (EMG). In order to be able to detect changes in EMG, more than 2-3 weeks' time is required. Moreover the findings resemble other myopathies and are unspecific. EMG studies in paralysed muscles and sometimes unconscious patients is difficult or even impossible Since the 1950s, it has been attempted to investigate the muscle cell membrane properties, but it has not been possible to develop a clinically applicable diagnostic method. The novel electrophysiological method MVRCs is a possible future diagnostic method. It's more sensitive to muscle cell membrane changes than existing methods and it is simple enough to use in multiple clinical settings. The objective of this study is to investigate the utility of MVRCs in the early diagnosis of critical illness myopathy by investigating the muscle membrane properties in sepsis patients, who are in risk of developing CIM. In addition, this will contribute to a better understanding of the pathophysiology of critical illness myopathy. The study will enrol 70 participants in total, divided in to 2 groups of 20 patients aged ≥18 years; 1) patients with sepsis at intensive care units and 2) patients with chronic renal failure and uremia, and 30 sex- and aged-matched healthy participants. All subjects are to undergo neurological examinations, electromyography, nerve conduction studies, direct muscle stimulation and MVRCs. Blood tests will be taken in all patients. Patients with sepsis will be examined every week in 3 weeks. The presence of probable CIM will be determined on the 4th examination. Healthy participants and patients with chronic renal failure will only be examined in 1 occasion. The primary outcomes will be MVRCs parameters which will be compared between patients and healthy participants. Furthermore, MVRCs parameters will be correlated to blood sample results.