View clinical trials related to Myopathy.
Filter by:WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene. The primary aim of the study is to specify meaningful outcome measures for future clinical trials. WiTNNess is open to children and adults worldwide. Participants can choose to include their information once (cross-sectional cohort) or every few months (prospective cohort).
The repeated bout effect (RBE) refers to the adaptation whereby a single bout of eccentric exercise protects against muscle damage from subsequent eccentric bouts. This effect has been shown in many muscle groups using both serum biomarkers, muscle soreness and imaging techniques. Though the effect is well described in healthy, it has never been studied in patients with neuromuscular diseases (NMDs). In healthy, the RBE is only described using eccentric exercise, but unlike healthy persons, patients with NMDs can experience significant muscle damage with concentric exercise. This raises the question, if patients with NMDs could also show RBE when performing concentric exercise.
Systemic autoimmune myopathies are rheumatic diseases that affect the striatum 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 chronic transcranial direct current stimulation sessions - associated with aerobic exercises - in the patients with systemic autoimmune myopathies.
Due to the widespread use of NGS, TTN is emerging as a major causative gene in neuromuscular disorders, with high clinical heterogeneity. The mechanisms underlying the phenotypic variability and mode of inheritance (recessive or dominant) of titinopathies are poorly understood. They involve the primordial structural functions of titin on the formation and stability of the sarcomere, as well as its interactions with other proteins. We identified by NGS, in patients with skeletal myopathy (with or without cardiomyopathy), several potentially disease causing TTN variants. The specific aims of the present project are to implement functional studies (transcripts, protein analyses, in vitro protein-protein interaction studies) to evaluate the effect of TTN variants on the transcripts and protein in order to perform phenotype-genotype correlation studies. We participate to the national "titin network" and to international efforts for the understanding of the molecular bases of titinopathies. Genomic characterisation opens the way to develop cellular models of titinopathy, derived from patient biopsies. This is also a mandatory first step for the design of novel therapeutic approaches.
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.
Visits to the emergency department (ED) for chest pain are extremely common and require a safe, rapid and efficacious treatment algorithm to exclude a possible AMI. These diagnostic algorithms are partly based on an important laboratory value, which showed growing utility in the diagnostic and prognostic of many cardiovascular diseases in the last years : cardiac troponin. However, some patients with muscle disease often present with unexplained elevated high-sensitive cardiac Troponin T (hs-cTnT) levels in the absence of cardiac disease. The investigators aim at the characterization of the behaviour of this biomarker and its alternative (high-sensitive cardiac Troponin I), which will have important clinical implications on patients management.
To find out the pharmacokinetic and genetic risk factors involved in muscular side effects (myalgia) associated with statin therapy. To learn better ways of identifying risk factors associated with muscle side effects during statin therapy. To perform laboratory analysis to identify factors predicting future outcomes. The genetic material, in combination with other medical information and blood tests, will be available to researchers studying genetic and other factors that contribute to myalgia caused in some patient population on statin medication. Patients on statin are selected for this study. This study will recruit 1500 subjects from National heart Centre Singapore over a period of 2.5 years. Participation in the full study includes the donation of genetic material. However, subjects have the option of not having blood subjected to genetic analysis and still participate in the study. In this case, blood samples will only be analyzed for the statin drug content.
The investigators are researching families with inherited inclusion body myopathy (IBM) and/or Paget disease of bone (PDB) and/or dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene. Our main goal is to understand how changes in the VCP gene cause the muscle, bone and cognitive problems associated with the disease. The investigators are collecting biological specimen such as blood and urine samples, family and medical histories, questionnaire data of patients with a personal or family history of VCP associated disease. Participants do not need to have all symptoms listed above in order to qualify. A select group of participants may be invited to travel to University of California, Irvine for a two day program of local procedures such as an MRI and bone scan. Samples are coded to maintain confidentiality. Travel is not necessary except for families invited for additional testing.
1. Analyze the various causes of breakdown of muscle fibers in hospitalized patients. 2. Analyze the characteristics of these patients in Taiwan (including the drugs history, risk factors and the incidence of complications).
Lipitor®, Zocor®, and Crestor® are statin drugs commonly taken to lower cholesterol and prevent heart disease. Statins lower cholesterol by different amounts in different patients and sometimes statins cause muscle pain, cramps, or weakness. This study will examine genetic differences in the blood of patients taking statins to predict both how well the statins lower cholesterol, and whether muscle discomfort occurs. Finding such genetic connections is the key to developing genetic tests that might eventually help determine which statin is best for a patient. About 1000 people will be in the study.