Active clinical trials for "Muscular Diseases"

Adult patients with suspected or confirmed idiopathic inflammatory myopathy (IIM) will be recruited. Patients will be approached, consented, have baseline demographics, diagnostics and disease activity measures recorded, and blood taken. The collection of data and biological material will mirror usual clinical practice as far as possible. Subjects will ideally attend further visits at 3, 6 and 12 months to have bloods taken, outcome measures recorded and questionnaires completed.In addition, blood, muscle biopsies and imaging undertaken as part of usual care will also be collected for research purposes to measure a number of biomarkers for the assessment of diagnostic accuracy and clinical utility evaluation. As per usual practice, a muscle biopsy will be performed at baseline, and a further biopsy offered at 6 months to assess treatment response. A magnetic resonance (MR) muscle protocol will also be performed as per usual clinical practice, and a gadolinium-enhanced MR heart scan offered. Both these scans will be repeated at 6-12 months. An existing electronic database entry system will be used for data entry and capture on an anonymised basis.

Background: - Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common non-dystrophic muscle diseases that people are born with in the U.S. They affect development, muscles, and walking. Researchers want to test a new drug to help people with these diseases. Objectives: - To see if the drug N-acetylcysteine decreases muscle damage in people with RYR1-RM. To see if it improves their exercise tolerance. Eligibility: - People age 7 and older with a confirmed genetic diagnosis of RYR1 or a clinical diagnosis of RYR1 and a family member with a confirmed genetic diagnosis. Design: Participants will be screened with a checklist of criteria. Adult participants may have a muscle biopsy. A needle will remove a tiny piece of muscle in the lower leg. Study visits will take several days. Visit 1: Medical history Physical exam Blood, urine, and saliva tests Questions about symptoms and quality of life Heart, lung, and walking tests Muscle Oxygenation Capacity Test. A blood pressure cuff around the thigh will be tightened for up to 10 minutes. Biodex testing, stretching the leg against resistance Muscle ultrasounds. A probe will be moved over the skin. Participants may be photographed or videotaped during procedures. They may have a muscle biopsy. Six months later, visit 2 will repeat visit 1. Participants will start taking the study drug dissolved in water or placebo three times a day for 6 months. Participants will stay at NIH for 2 days after starting the study drug. Participants will be contacted by phone during the study to monitor side effects Six months after starting the study drug, study visit 3 will repeat some or all of visit 1.

Mitochondrial myopathies are a multisystemic group of disorders that are characterized by a wide range of biochemical and genetic mitochondrial defects and variable modes of inheritance. Currently there are no effective treatments for this disease. Despite the heterogeneous myopathy phenotypes, a unifying feature of mitochondrial myopathies is that the pathogenic mtDNA mutations and/or nuclear mutations of the electron transport chain invariably lead to dysfunctional mitochondrial respiration. This reduction in mitochondrial respiration leads to a reduced ability to produce cellular adenosine triphosphate (ATP), often resulting in muscle weakness, exercise intolerance, and fatigue in patients with mitochondrial myopathies. RTA 408 is a potent activator of Nrf2 and inhibitor of NF κB (nuclear factor kappa-light-chain-enhancer of activated B cells), and thus induces an antioxidant and anti-inflammatory phenotype. Several lines of evidence suggest that Nrf2 activation can increase mitochondrial respiration and biogenesis. Collectively, available data suggest that the ability of RTA 408 to activate Nrf2 and induce its target genes could potentially improve muscle function, oxidative phosphorylation, antioxidant capacity, and mitochondrial biogenesis in patients with mitochondrial myopathies. This study will be a randomized, placebo-controlled, double-blind, dose-escalation study to evaluate the safety of omaveloxolone (RTA 408) at various doses in patients with mitochondrial myopathies.

GNE myopathy is a distal myopathy that is thought to be caused by a mutation in the GNE gene that encodes an enzyme in the biosynthetic process of aceneuramic acid (typical sialic acid). The investigators will examine the efficacy and safety of aceneuramic acid (SA-ER tablets) 6g daily for 48 weeks in patients with GNE myopathy in a placebo-controlled, double-blind, controlled trial.

This is a randomized, double-blind, placebo-controlled, parallel group, multi-centre, study designed to investigate the efficacy and safety of REN001 administered once daily over a 24-week period to patients with PMM.

Mitochondrial diseases are a genetically heterogeneous group of disorders caused by mutations or deletions in mitochondrial DNA (mtDNA) displaying a wide range of severity and phenotypes. These diseases may be inherited from the mother (mitochondrial inheritance) or non-inherited. The latter are ultra-rare pediatric diseases caused by a mutation or deletion of mtDNA, which develop into a systemic multi organ disease and eventually death. MNV-BM-BLD is a therapeutic process for enrichment of patient's peripheral hematopoietic stem cells with normal and healthy mitochondria derived from donor blood cells. The process, called mitochondria augmentation therapy, aims to reduce the symptoms of mitochondrial diseases.

The purpose of this study is to determine whether intermittent nasogastric enteral feeding, rather than conventional continuous enteral feeding, will preserve muscle mass in the critically ill (Primary end-point). Such maintenance may translate into improved outcomes including reduced length of intensive care unit (ICU) and/or hospital stay, as well as number of days on a ventilator. In addition, long-term improvements in health-related quality of life and physical activity levels may result in these ICU survivors once they are back in the community. Indeed, such benefits could translate into reductions in primary healthcare usage and its related costs (secondary end-points).

Comparing the efficiency between manual therapy protocol and effleurage in patients with temporomandibular disorders.

Intensive care unit (ICU) hospitalization saves lives but often does so at a high personal cost to ICU survivors who frequently experience significant cognitive impairment and an array of physical and functional disabilities that limit their recovery and quality of life. While the problems experienced by these patients are likely amenable to rehabilitation, few ICU survivors receive focused rehabilitation. Recently, early physical rehabilitation in ICU patients has shown to improve the chances a patient will regain their pre-hospital functional status. Early cognitive rehabilitation for these patients has not yet been explored. This pilot study will determine the feasibility of early cognitive rehabilitation in ICU patients. The investigators will perform cognitive and physical rehabilitation, beginning in the earliest phases of critical illness, to determine the effect of these therapies on cognitive and functional outcomes in ICU survivors. The investigators hypothesize that combined cognitive and physical rehabilitation, started in the ICU, will improve recovery of cognitive and physical function as well as improve quality of life of ICU survivors.

Background: - Hereditary inclusion body myopathy (HIBM) is a genetic disorder caused by mutations in a gene called GNE. This gene is responsible for producing a sugar called sialic acid. Low levels of sialic acid may cause muscle problems. Symptoms of HIBM include walking difficulties and muscle weakness, which usually start in a person s 20s or 30s and become worse over time. Researchers are studying a drug called ManNAc. It may be useful for treating HIBM. However, this drug is still being tested. Researchers want to see how ManNAc is absorbed into and removed from the blood. They will not be looking specifically at whether ManNAc can stop or slow the symptoms of HIBM. Objectives: <TAB>To study how MaNAc is absorbed into and removed from the blood in people with HIBM. <TAB>To study of safety of ManNAc in people with HIBM. Eligibility: - Individuals between 18 and 70 years of age who have HIBM. Design: Participants will be screened with a physical exam and medical history. Blood and urine samples will be collected. Participants will have a 3 to 4-day inpatient stay for the main part of the study. Participants will be divided into groups of six. In each group, four will take ManNAc and two will take a placebo. Participants will not know which one they will receive. Participants will have a single dose of either ManNAc or placebo. They will be monitored for any possible side effects. Frequent blood samples will be collected during the 4-day stay. No treatment for HIBM will be provided as part of this study.