Active clinical trials for "Muscular Diseases"

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.

The study aims to provide a timely update on the role of combining clinical and neuromuscular ultrasound assessments in diagnosis and follow-up of various muscle diseases in clinical practice over 12 months period, and correlating US findings with functional scales, biochemical and electrophysiological studies.

A prospective observational study to determine the effectiveness of magnetic resonance (MR) imaging in the diagnosis and monitoring of idiopathic myopathy in adult humans.

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 aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders. Muscle quality in patients with Late Onset Pompe Disease (Acid Maltase Deficiency type 2) and in patients with Myotonica Dystrophy will be evaluated, by determining muscle strength in relation to muscle size and muscle strength in relations to fat-muscle ratio.

Introduction-Objective: Balance evaluation is one of the most important components of physical examination. Studies on equilibrium assessment in different research groups; It includes measurements that assess the seating balance, which does not require complex measurements or ambulation. In the literature, there is no clear information about balance effect in intensive care patients who can not be ambulated due to loss of advanced muscle strength, especially in the early period. Ottowa Sitting Scale is a scale in which the balance is evaluated in the sitting position and it has no validity and reliability in Turkish. Therefore, the aim of this study is to examine the reliability and validity of the Ottowa Sitting Scale Turkish version between measurements and measurements.

The adult onset form can occur between the second and sixth decades of life as a form of proximal myopathy, predominantly in the pelvic girdle area. Sometimes the first symptoms are shortness of breath and diaphragm weakness which herald progressive proximal muscle weakness. The heart and liver are not affected. Serum CK (Creatine Kinase) activity is 2 to 10 times higher than normal. EMG (electromyogram) testing usually reveals a myopathic pattern and muscle biopsy may show vacuoles containing an accumulation of glycogen that is not broken down. Until fairly recently, an assay of acid maltase activity using cultured fibroblasts after biopsy of skin or muscle tissue was required for diagnosis, as leukocytes contain a renal isoenzyme that is not absent in these patients and which can mask the deficit and result in false negatives. In recent years this problem has ben solved by the introduction of acarbose, an inhibitor of renal α-glucosidase; it is also used in the dried blood spot method, which measures acid maltase activity using maltose and acarbose as inhibitors and 4-methylumbelliferyl-D-glucopyranoside as substrate.

This is a prospective, longitudinal study of the natural disease course intended to recruit approximately 60 patients with centronuclear myopathies (CNM) in Europe and the United States. The duration of the study, including the enrollment period, will be approximately 4 years. Data from the study will be used to characterize the natural disease course of CNM, to identify prognostic variables of the disease and to determine the best outcome measure(s) for the evaluation of future therapeutic approaches.

Evaluate the accuracy, in the diagnosis of critical illness myopathy and / or neuropathy, of the simplified peroneal nerve test performed by a neurophysiopathology technician or by a neurophysiopathology doctor (as the gold standard) compared to the exam performed by an intensivist.

Our aim is to establish multi-center national Egyptian database of information for inherited and acquired neuromuscular diseases in infants and children from 0 to 18 years of age.