Active clinical trials for "Neuromuscular Diseases"

The purpose of this study is to evaluate the Genesis Electrical Impedance Tomography (EIT) imaging system for use in pediatric respiratory disease populations including neuromuscular and bronchopulmonary dysplasia, as well as in age and height matched controls. The EIT does not use radiation, and is read through electrodes.

The neuromuscular disorders could be briefly divided to neuropathy, myopathy, motor neuron disease, and neuromuscular junction disorder. In the past, the evaluation of the neuromuscular disorders depended on several ways (ex. electrodiagnostic studies and biopsy) to evaluate the pathophysiology and the pathological change. However, due to the issue of resolution, few image studies were available to evaluate the structure for clinical practice. With the growing techniques, there are two ways to see the nerve and muscle in vivo, the magnetic resonance imaging (MRI) and the ultrasonography. The availability of the machine, the high cost, inability to change the position for dynamic views of the nerves, and the relative invasion considering the large energy penetrating the patient might limit the clinical use of MRI. The nerve ultrasonography is a safe and easily available technique. The development of high-frequency transducers has led to an improvement in the resolution of ultrasonography and enables the exploration of peripheral nerve and muscle structural changes. In additional to evaluate the morphological changes, ultrasonography has been used extensively for the vessel status assessment through duplex ultrasound. In present study, we will apply variable approaches, including to muscle, nerve, and skin biopsy, electrophysiological study, quantitative sensory testing, autonomic functional tests, pain evoked potentials, MRI, and ultrasonography to integrally investigate the different aspects of neuromuscular disorders. The results of the study will provide integrated insights of (1) the neurophysiology of nerve and vessels and (2) pathogenesis of different neuromuscular disorders.

The instrumental evaluation of standing postural control by posturographic analysis supplements the clinical evaluation and, as such, is recommended by the French National Authority for Health (HAS 2007). The quantitative data obtained after a standardized postural examination appear relevant for the longitudinal follow-up of neuromuscular patients and hemiparetic patients. Neuro muscular (NM) diseases are progressive, these instrumental evaluations can highlight a deterioration or stabilization of postural control possibly not observable with the scores on clinical scales. The K-Force Plates, recently developed appear to be an interesting alternative to the stabilometry platforms currently used. Static and dynamic conditions in upright position are tested. Moreover, posturologic, kinematics data and clinical scores are correlated to increase understanding of strategies during postural control tasks in patients with stroke and in patients with NM disorders.

This project is a retrospective and prospective investigation of neuropsychological and psychosocial development of children with a neuromuscular disease.

Non-invasive ventilation (NIV) in patients diagnosed with amyotrophic lateral sclerosis (ALS) is nowadays common practice to provide comfort at the end stage of the disease. As complaints vary there is the need of a non-invasive device to measure respiratory volume to objectify complaints. The ExSpiron© is a device for non-invasive monitoring of respiratory volume. The validation of this monitor in patients with ALS is the aim of this study. The hypothesis is that the ExSpiron© delivers a valid assessment of respiratory volume in patients with ALS

Parents of children with gastrostomy have problems with the selection and preparation of nutritional products and catheter care during home care. Parents express that they want to receive practical training in the process of home care of the child with gastrostomy, they want to communicate more with the team and they need continuous monitoring to solve the problems encountered effectively. In this context, it is aimed to establish an appropriate training programme for the care of children with gastrostomy, to provide counselling and follow-up. Digital health technologies are divided into different sub-branches. Mobile health applications constitute one of these structures. Mobile health applications are used in elective surgical interventions in pediatric surgery (tonsillectomy, hernia repair, circumcision, etc.) and in the home care process after organ transplantation. In pediatric surgery, many mobile health applications have been developed to support pain management, symptom monitoring, medication adherence, support care processes, postoperative follow-up and self-management processes. In mobile health applications, no mobile application has been found for the use of parents of children with gastrostomy. In Turkey, there is no known nursing study for the use of parents of children with gastrostomy. The aim of this study is to develop a mobile application for the care of children with gastrostomy and to determine the effect of the application on gastrostomy complications, care burden of parents, self-efficacy and anxiety level.

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.

This is a phase 2a, double-blind, placebo-controlled, single-center study. Twenty-one patients who qualify for the study will be randomly assigned to either active drug or placebo. The study will take place at Newcastle University. Patients will have a 66% chance of getting active drug. Patients will be required to take study treatment orally twice a day for 28 days. A baseline visit will occur within 21 days of screening visit. All patients will be followed for 1 week after completion of study or early withdrawal from the study.

The present trial is designed to assess the safety and efficacy of TNX-102 SL 2.8 mg tablets, taken daily at bedtime after 12 weeks of treatment in patients with fibromyalgia. The use of low-dose sublingual formulation of cyclobenzaprine (TNX-102 SL) dosed nightly for fibromyalgia is supported by the results of TNX-CY-F202 Phase 2b study -- the results provide strong evidence that TNX-102 SL 2.8 mg dosed nightly results in beneficial effects upon pain, sleep and other FM symptomatology.

As fatigue and daytime sleepiness are typical symptoms of alveolar hypoventilation in patients with neuromuscular disorders and thoracic deformations, we hope, by starting non-invasive ventilation and improving these symptoms, to increase their physical activity.