View clinical trials related to Neuromuscular Diseases.
Filter by:Objectives: - To evaluate the feasibility of delivering the Neuromuscular Bridges Self-Management Programme (NM Bridges) in addition to usual care. - To evaluate the feasibility of an implementation strategy package and identify barriers and facilitators to implementation of NM Bridges at a specialist neuromuscular centre. Type of trial: A hybrid II feasibility trial Trial design and methods:A hybrid trial which simultaneously investigates both the feasibility of NM Bridges, and the feasibility of a package of implementation strategies. Trial duration per participant: 4 months Estimated total trial duration: 1 year Planned trial sites: Single site Total number of participants planned: 60 Main inclusion/exclusion criteria: Participants will be over the age of 18, with a diagnosis of neuromuscular disease from a neurologist at the Queen Square Centre for Neuromuscular Diseases (CNMD). Participants will be deemed by healthcare professionals to have the capacity to give informed consent to participate in the research. Statistical methodology and analysis: This is a single-arm cohort study of feasibility of the NM Bridges intervention. The primary analysis will be of feasibility of conducting a trial of the intervention within a single pilot site. Secondary analysis will be calculation of effect sizes of patient reported outcome measures (PROMS). The investigators will also be interviewing participants and qualitative analysis methods will be used.
In a randomized cross-over design, two different modes of a mechanical insufflator/exsufflator applied to pediatric subjects with neuromuscular disease will be compared with respect to their short term effect on lung function, i.e. lung volume.
The purpose of this research repository is to collect, store, and share with other researchers any tissues that subjects with all types of neuromuscular disease are willing to donate. These samples will be stored at Virginia Commonwealth University (VCU) and will be used for future research with this population.
The diaphragm is the main muscle of respiration during resting breathing (1), and is formed by two muscles with dual innervation, joined by a central tendon. When it is contracted, the caudal movement increases the volume of the rib cage, generating the negative pressure necessary for inspiratory flow (2). When respiratory demands are increased or diaphragm function is impaired, rib cage muscles and expiratory muscles are progressively recruited. In some patients with diaphragm dysfunction, this compensation is associated with minimal or no respiratory symptoms. In other patients, this compensation is associated with significant respiratory symptoms. Early diagnosis of diaphragmatic dysfunction is essential, because it may be responsive to therapeutic intervention (3). The ultimate causes of diaphragmatic dysfunction can be broadly grouped into three major categories: disorders of central nervous system or peripheral neurons, disorders of the neuromuscular junction and disorders of the contractile machinery of the diaphragm itself (4). So In summary, motion and contractile force of the diaphragm may be affected by pathological alterations of the following anatomical structures: - - Central nervous system - - Phrenic nerve - - Neuromuscular junction - - Diaphragm muscle - - Thoracic cage - - Upper abdomen In patients on mechanical ventilation, the positive end expiratory pressure (PEEP) level also decrease diaphragmatic motion by increasing the end expiratory lung volume and thereby lowering the diaphragmatic dome at the end of expiration (3). Diaphragm muscle dysfunction is increasingly recognized as an important element of several diseases including neuromuscular diseases leading to a restrictive respiratory pattern (1). The assessment of respiratory muscle function is of paramount interest in patients with neuromuscular disorders. In patients with neuromuscular diseases, respiratory symptoms are subtle and usually appear late in the clinical course of the disease, partly because of the limited mobility of patients due to peripheral muscle weakness, except in the case of acute respiratory failure due to infection. Clinical presentation is quite variable in cases of diaphragmatic failure. Orthopnea may be present and paradoxical abdominal motion may be observed during inspiration, with the abdomen moving inward while the rib cage expands (3). Different structural and functional techniques are available for evaluating the diaphragm. Each technique has its strengths and weaknesses (5). Imaging of respiratory muscles was divided into static and dynamic techniques. Static techniques comprise chest radiography, B-mode (brightness mode) ultrasound, CT and MRI, and are used to assess the position and thickness of the diaphragm and the other respiratory muscles. Dynamic techniques include fluoroscopy, M-mode (motion mode) ultrasound and MRI, used to assess diaphragm motion in one or more directions (6). The recent development of diaphragmatic ultrasound has revolutionized diaphragm evaluation (2). Diaphragm ultrasonography was first described in the late 1960s as a means to determine position and size of supra- and subphrenic mass lesions, and to assess the motion and contour of the diaphragm (1). Two decades later, Wait et al, developed a technique to measure diaphragm thickness based on ultrasonography. Later on the investigators reported a close correlation between diaphragm thickness measured in cadavers using ultrasound imaging and thickness measured with a ruler (7). it has been shown to be similar in accuracy to most other imaging modalities for diaphragm assessment (5), as it can be used to assess bilateral diaphragmatic morphology and function in real time, permitting follow-up without exposure to radiation. It is, moreover, affordable and ubiquitous. (2). First developed in intensive care, mainly for weaning from mechanical ventilation, its use is now extending to pulmonology. Different measurements are described such as diaphragmatic excursion, diaphragmatic thickness and diaphragmatic thickening fraction (8). US measurements of diaphragm muscle thickness and thickening with inspiration have been shown to be superior to phrenic nerve conduction studies (NCS), chest radiographs, and fluoroscopy for detection of neuromuscular disease affecting the diaphragm. The main use in pulmonology is for the respiratory evaluation of patients with neuromuscular diseases, for the search of isolated diaphragmatic impairment and for patients with chronic obstructive lung diseases. Numerous studies are in progress to better determine the role of diaphragmatic ultrasound (5).
The study will be a non-randomized open label pilot study using an observational design comparing a retrospective control period to an active treatment period with oscillation and lung expansion (OLE) therapy.
Des vaccins sont désormais disponibles en France, dont le vaccin Moderna COVID-19 qui est basé sur la technologie des ARNm. La séquence génétique qu'il contient code pour la protéine Spike (S) de l'enveloppe virale, protéine clé de la pénétration du virus dans les cellules qu'il infecte. Le vaccin ARNm est injecté par voie intramusculaire et pénètre dans les fibres musculaires, qui sont des cellules produisant des protéines en très grande quantité en continu, notamment pour la production de myofibrilles impliquées dans la contraction musculaire. Une fois à l'intérieur de la fibre musculaire, l'ARNm vaccinal est traduit par la machinerie de la fibre musculaire permettant une grande quantité de protéine Spike (S) qui sera présentée au système immunitaire provoquant la réponse vaccinale et notamment les anticorps neutralisants anti-S (NAb). Ces NAb anti-S agissent en perturbant l'interaction entre la protéine S du virus et le récepteur ACE2 (Angiotensin-Converting Enzyme 2), qui sert généralement de " passerelle " entre le virus et la cellule. Une campagne de vaccination est actuellement en cours au MAS-YDK avec le vaccin Moderna. Cette population est donc relativement homogène en termes d'amyotrophie, de non exposition au SARS-CoV-2 et de protocole vaccinal.
Non-Invasive Ventilation (NIV) is an established treatment to manage respiratory muscles dysfunction in neuromuscular disease, preventing the progression of respiratory failure to intubation and/or a tracheotomy. NIV is commonly needed at first during the night, but when the disease worsens, it is required during the day. It is provided via nasal or oronasal masks, causing discomfort and/or aesthetic issues that result in poor compliance. Intermittent Abdominal Pressure Ventilation (IAPV) is a valid, though unconventional, alternative to daytime NIV: it consists of a portable ventilator with an internal battery and a corset as interface. The IAPV corset is lightweight, comfortable and, thanks to velcro fasteners, easier and better fitting than a face mask. Cyclical inflation of a rubber bladder inside the corset moves the diaphragm upwards like a pneumobelt causing air to enter in the lungs via the upper airways as gravity draws the diaphragm back to its resting position. IAPV is indicated in neuromuscular disease and has already been tested in few preliminary studies and case reports. This study wants to verify the hypothesis of its application in population of neuromuscular patients.
This trial will study the efficacy and safety of taldefgrobep alfa as an adjunctive therapy for participants who are already taking a stable dose of nusinersen or risdiplam or have a history of onasemnogene abeparvovec-xioi, compared to placebo.
The purpose of this study is to assess the efficacy of using intelligent volume assured pressure support (iVAPS-AE) versus spontaneous timed (ST) modes of non-invasive ventilation (NIV) in patients diagnosed with amyotrophic lateral sclerosis (ALS). The investigators believe that the use of iVAPS-AE mode NIV over a 90 day period will produce NIV compliance data and health-related quality of life (HRQOL) scores that are equivalent or no worse compared to ST mode NIV.
The hand is important to perform activities of daily living (ADL). However, many people experience a loss of hand function as result of a traumatic brain injury, spinal cord injury, stroke or orthopedic problems, or due to ageing. To improve hand function, or reduce its decline, one can benefit from exercise therapy or use of assistive aids to improve ADL independence. A promising innovative approach combining both is a wearable soft-robotic glove that supports hand grip. With this glove, performance of functional activities can be supported directly, while also facilitating repeated use of the affected arm and hand during functional daily activities. One of our previous studies showed that besides a direct support effect, a therapeutic effect on performance was found after several weeks of using the soft-robotic glove as support during ADL. However, several participants reported complaints of increased pain and/or overload, mainly at the beginning of the trial. Clinicians suspect that a (too) high intensity of hand use compared to normal is contributing to this observation. This might be related to more fatigue experienced when using the glove in high-demand tasks, due to a larger movement capacity (faster, further, more repetitions) and can be associated with decreased blood perfusion/lower saturation levels at muscular level and altered muscle activation and movement coordination. Therefore, the primary objective is to examine the effect of use of the assistive soft-robotic glove during strenuous ADL tasks on the kinematic movement profile, compared to not using the soft-robotic glove. Secondary objectives are to examine whether pain or discomfort is experienced in strenuous activities with the soft-robotic glove as well as the characteristics and locations of such pain/discomfort, and to examine whether use of the glove is associated with increased handgrip strength, larger number of ADL task repetitions, diminished blood perfusion / reduced tissue saturation at the muscle and/or changes in muscle activity.