Active clinical trials for "Muscular Diseases"

Comparing different lines of treatment of Duchenne Myopathy (DM) and assessment of new lines of treatment (mesenchymal stem cell, phosphodiesterase inhibitors) in reducing the impact of disability in the patients with Duchenne Myopathy and slowing the progression of cardiomyopathy Upsetting and implementation of the best treatment plan for those children with Duchenne myopathy which is suitable for the available resources in Assiut University Children Hospital

Statins are a class of drugs given to lower cholesterol. Although statins are considered to be generally safe, some studies show that about 10% of people on statins develop muscle-related symptoms, from fatigue (tiredness), weakness, cramping, pain and sometimes a lifethreatening muscle breakdown condition known as rhabdomyolysis. In some, these symptoms may greatly affect their daily activities. One consideration why symptoms develop in only some patients is that they may have an underlying problem in the way their muscles use fats to produce energy. In these patients, the muscles are not able to fully utilize fats and so they become tired more easily. Fat within the muscle can also affect how your body uses a hormone called insulin, which affects your blood sugar levels. The investigators are specifically interested in previous statin users and determine if the muscle symptoms are related to changes in energy and sugar use. We propose to enroll patients who have developed muscle side effects on previous statin treatment and have since discontinued statin treatment. Our aim is to compare the metabolic parameters in these patients to age and gender-matched normal individuals.

The purpose of this study is to identify the patients seen in our practice who are seen with Hypertrophic Myopathy diagnosis in order to better understand the presenting characteristics of their disease, the diagnostic testing to determine the diagnosis, the methods used to follow the disease progression and management practices used in caring for these patients. The objectives of this data review will be an analysis to determine if there is a methodology that will foster improved diagnostic speed and accuracy, and determine the best management practices based on outcomes in these patients.

The aim of this study is to compare the surface electromyography (EGM) changes between dry needling in the upper trapezius, is a prevalence tonic fiber or lower trapezius is a prevalence phasic fiber.

Endocrine diseases including Cushing's syndrome and phaeochromocytoma/paraganglioma (PPGL) but not Conn's syndrome are associated with muscle wasting and weakness. The study's aim is to identify epigenetic determinants of muscle homeostasis in these conditions following medical treatment and adrenalectomy. This is an observational pilot study that will recruit 66 patients from 3 diagnostic groups: Cushing's syndrome (16), PPGL (20) and Conn's syndrome (30). Indices of muscle bulk and strength will be assessed at diagnosis and at outpatient follow-up 6-9 weeks after adrenalectomy. At these times blood and urine will be collected and a muscle biopsy taken from the operation site at the time of surgery. Pathway analysis in these samples will identify potentially novel signalling pathways contributing to muscle wasting via prolonged exposure to high levels of corticosteroid and catecholamines. This will highlight commonalities and differences in pathogenesis of muscle wasting from a variety of different causes. Finally, it will inform identification of novel therapies for muscle atrophy.

Mitochondrial myopathies include various inherited diseases that are caused by damage to the mitochondria, energy-producing structures that fuel the body's processes. The main symptoms are muscle weakness, reduced muscle mass, and difficulty with exercising. The purpose of this study is to determine the effects of exercise training versus inactivity on mitochondrial function in muscle and muscle performance in people with mitochondrial myopathies.

We will examine whether the application of electro-neuro-muscular stimulation (ENMS) in critical care patients, can decrease the impact or severity of the critical illness myopathy (CIM) or neuropathy. We will also assess whether electro-neuro-muscular stimulation affect the incidence density rate of nosocomial pneumonia in the ICU. Patients will be divided into two groups, Group A and Group B chosen at random. In Group A conventional physiotherapy will be applied while in Group B, ENMS will also be applied additional to physiotherapy, in the quadriceps muscles. The total time of applying ENMS will be 1 hour, it will be applied before the start of the physiotherapy per day of hospitalization and for 10 days in each patient. The definition of CIM will be based on pathology muscular biopsy (quadriceps). Patients will undergo biopsy on the 1st and 11th day after entering the study. The technique of Gomori Trichrome will be used to determine the existence or absence of myopathy. In addition the ATPase technique will be applied at different prices of PH (PH: 9,4, PH: 4,6 and PH : 4.3), thus achieving a separation of myopathy and neuropathy. The primary outcome of the study will be the incidence of myopathy in both groups, at day 12th. Considering that the incidence of myopathy in critically ill patients is 80% reducing this rate by 50% in the intervention group using statistical power equal to 0.80 up to a level of p <0.05, 12 number of patients will be required in each group.

The purpose of the study is to investigate if treatment with L-Tyrosine improves selected outcome measures of TNNT1 myopathy.

Clinical, prospective and monocentric study aiming at assessing the feasibility of fibrosis detection and quantification (and of function assessment) during MRI without breath-holds in a population of adults and children with Duchenne myopathy.

The primary objective of the study is to investigate whether differences in atorvastatin metabolite ratios might have a positive or negative predictive value in diagnosing atorvastatin muscle toxicity. A muscle biopsy is also collected and investigated.