Active clinical trials for "Muscular Diseases"

The safety objectives of the study are to: evaluate additional long-term safety of SA-ER treatment of participants with GNE myopathy previously treated with SA-ER at dose of 6g/day (Part I); evaluate the safety of 12g /day SA (delivered by 1.5g of SA-ER tablets and 1.5g of SA-IR capsules 4 times per day) in the treatment of participants with GNE myopathy (Part II) over a 6 month treatment period; evaluate the safety of SA treatment at both 6g/day and 12 g/day (Part III [SA-ER/SA-IR] and Part IV [SA-ER]).

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 principal research question to be answered by this study is whether an exercise based rehabilitative intervention following critical illness can generate improvements in exercise capacity and quality of life beyond current (usual) care. The investigators will also aim to demonstrate that such an intervention is both practical and cost-effective.

The aim of this study is to investigate the effects of gaze-directed oculomotor training incorporated with web-based curriculum readings in Chinese to enhancing fixation, saccade and Chinese characters recognition in schoolchildren with neuromuscular disease associated with congenital oculomotor anomalies.

This study aims to investigate the clinical efficacy of baricitinib in patients with adult idiopathic inflammatory myositis (IIM). Half of the patients enrolled onto the study will receive 24 weeks of baricitinib from the baseline visit with a 12 week follow-up period. The other half of patients will receive 24 weeks of barcitinib treatment after an initial 12-week delay with a 4 week follow up period for safety.

In adults, muscle diseases are usually chronic long-term conditions that do not have a definitive cure. Supportive care has been shown to reduce complications from muscle disease and improved survival in some cases. However, there has been limited research to evaluate interventions that may improve quality of life (QoL) with this patient group. The QoL of those with MD is not just affected by the severity of their MD but also a variety of psychological variables. Based upon the knowledge of these psychological variables the investigators feel that a particular type of psychological intervention known as "acceptance and commitment therapy" (ACT) could potentially improve QoL in those with MD. The investigators therefore propose to test whether ACT does in fact improve QoL in those with MD by randomising 154 patients to receive either standard medical care plus a guided self-help ACT programme, or standard medical care only.

GNE myopathy or hereditary inclusion body myopathy (HIBM) is a severe progressive metabolic myopathy caused by a defect in the biosynthetic pathway for sialic acid (SA).

This is a 2 stage exploratory study with a 3-month observational phase on the natural course, followed by a 12-month, open-label, non-comparative, single-arm, phase II pilot study on the efficacy, safety and tolerability of a low-protein diet (LPD) in 8 adult patients with Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). Objective of this trial is to test the effect of a normocaloric LPD to reactivate autophagy in BM/UCMD patients. The primary end point of the study will be the change in muscle biopsy of Beclin 1, a marker of autophagy, at 1 year of LPD treatment when compared to baseline. The rationale rests on our discoveries that (i) mitochondrial dysfunction mediated by inappropriate opening of the PTP plays a key role in collagen VI myopathies; (ii) defective autophagy with impaired removal of defective mitochondria amplifies the defect; and (iii) reactivation of autophagy with a low-protein diet or treatment with cyclosporine A, the mitochondrial PTP inhibitor, cured Co6a1-/- mice, hinting at a common target among all beneficial treatments - namely autophagy. Specific aims of this project are to (i) study the modifications of clinical, nutritional and laboratory parameters in a cohort of patients with BM/UCMD during a 3-month observational period before starting the LPD treatment; (ii) assess the effect of a normocaloric LPD in correcting defective autophagy in muscle of patients; (iii) test if new non-invasive biomarkers of activation of autophagy examined in the blood are mirroring the effect of LPD in the muscle biopsy; (iv) assess the clinical efficacy and safety of the LPD with an innovative combination of complementary measures of the nutritional status in patients. The anticipated output is defining and validating a therapeutic nutritional approach in autophagy upregulation for BM/UCMD.

OBJECTIVES: I. Assess the efficacy of thioctic acid in treating a single patient with mitochondrial myopathy.

Chronic pelvic pain (CPP) is a common presenting complaint affecting approximately 15-40 % of women aged 18-50 in western countries and 5-43% of women in most developing countries. It is debilitating and has a large socio- economic impact, with a 45%reduction in work productivity, and a 15% increase in absence from work in women with the condition. Botulinum neurotoxin type A (BoNTA) has been suggested to improve pain in muscle spasm, its role in CPP secondary to pelvic floor spasm has gained increasing interest. However, clinicians do not have a diagnosis tool to evaluate the CPP and the BoNTA treatment results. Design and develop an efficient and simple tool for the diagnosis and detection of pelvic floor muscle (PFM) dysfunction based on superficial electromyography (EMG) and perform 25 EMG registrations sessions in healthy patients and 25 EMG sessions in patients diagnoses with PFM that will be treated with BoNTA to and study the EMG signal before and after BoNTA administration.