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Muscular Diseases clinical trials

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NCT ID: NCT02731690 Terminated - GNE Myopathy Clinical Trials

A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER; UX001) Tablets in Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy [HIBM]) Patients With Severe Ambulatory Impairment

Start date: April 29, 2016
Phase: Phase 2
Study type: Interventional

The primary objective of this Phase 2 study is to evaluate the safety of open-label 6 g/day Ace-ER in GNEM participants with severe ambulatory impairment.

NCT ID: NCT02505087 Terminated - Clinical trials for Selenoprotein N-related Myopathy

Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM)

SelNac
Start date: September 2015
Phase: Phase 2/Phase 3
Study type: Interventional

The objective of this study is to determine whether the administration of N-acetylcysteine (NAC) improves oxidative stress. To determine this, the study will assess the impact of oral treatment on the balance between reduced and oxidized form of glutathione in erythrocytes of peripheral blood.

NCT ID: NCT02104336 Terminated - Pearson Syndrome Clinical Trials

Phase 2 Study of EPI-743 in Children With Pearson Syndrome

Start date: August 31, 2014
Phase: Phase 2
Study type: Interventional

Treatment of Pediatric Subjects with Pearson syndrome

NCT ID: NCT02090959 Terminated - Clinical trials for Nervous System Diseases

An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy

Start date: March 20, 2014
Phase: Phase 3
Study type: Interventional

The primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren [PTC124-GD-020-DMD {NCT01826487}]) to augment the overall safety database. Screening and baseline procedures are structured to avoid a gap in treatment between the double-blind study (PTC124-GD-020-DMD) and this extension study. This study may be further extended by amendment until either ataluren becomes commercially available or the clinical development of ataluren in duchenne muscular dystrophy (DMD) is discontinued.

NCT ID: NCT01040650 Terminated - Clinical trials for Myopathy (Statin Associated)

Metabolic Features of Post-Myopathy Patients Associated With Statin Treatment

Start date: August 2009
Phase: N/A
Study type: Observational

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.

NCT ID: NCT00850460 Terminated - Clinical trials for Statin-Associated Myopathy

Quality of Life in Patients With Statin-Associated Myopathy

Start date: February 2009
Phase: Phase 4
Study type: Interventional

The proposed study will focus on possible effects of statins on muscle strength and why they become tired more easily, quality of life, and measurements to understand why muscles are not able to fully utilize fats. The investigators are specifically interested in statin users and the impact of muscle symptoms on daily activities and quality of life. This study hypothesize that patients with likely statin-associated myopathy have a metabolic dysregulation in fuel utilization such that compared to patients continuing statins, those on placebo will show: 1. improved INQoL and SF-36 scores (primary end point) 2. alleviation of muscle symptoms, 3. increased utilization of fatty acids as a fuel source reflected by the metabolic test results 4. decreased IMCL 5. improved insulin sensitivity.

NCT ID: NCT00278564 Terminated - MYOPATHY Clinical Trials

Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases

Start date: September 2005
Phase: Phase 1
Study type: Interventional

Myositis is a disease, believed to be due to immune cells, cells which normally protect the body, but are now attacking the muscles and other organ systems within body. As a result, the affected muscles and organs fail to work properly causing weakness, difficulty swallowing, skin rash, respiratory problems, heart problems, joint stiffness, soft tissue calcification and vasculitis (blood circulation problems). The likelihood of progression of this disease is high. This study is designed to examine whether treating patients with high dose cyclophosphamide (a drug which reduces the function of the immune system) and ATG (a protein that kills the immune cells that are thought to be causing this disease), followed by return of previously collected blood stem cells will stop the progression of myositis.

NCT ID: NCT00240981 Terminated - Sarcopenia Clinical Trials

TOM: Testosterone in Older Men With Sarcopenia

Start date: January 2005
Phase: Phase 4
Study type: Interventional

The purpose of this study is to determine whether testosterone replacement in older men with low testosterone levels will increase muscle strength, improve physical performance and overall sense of well being, and reduce fatigue.