View clinical trials related to Neuromuscular Diseases.
Filter by:ALCOTRA (Alpes Latines COoperation TRAnsfrontalière) is one of the European cross-border cooperation programmes covering France and Italy and financed by the ERDF (European Regional Development Fund). It includes the thematic plan (PITEM), called "PROSOL" (PROximity and SOLidarity), set up in the PIEDMONT region (Italy). The PITEM PROSOL strategy aims to develop new social and health services for vulnerable populations in the rural areas and cross-border Franco-Italian mountains of the South regions (Provence Alpes Cote d'Azur, Liguria, Piedmont and Aosta valley). As part of the PITEM PROSOL project, a PROSOL telemedicine platform has been developped for the management of isolated patients from the territory of the Latin Alpes and suffering from neurological diseases (neurodevelopmental disorders, neuromuscular diseases and neurodegenerative diseases). These patients are divided into 3 experimental groups: WOMEN (project 5106), SENIORS (project 4128) and YOUTH (project 5162). A PROSOL e-learning platform (https://www.prosol-elearning.com/) has also been developped for these patients, their caregivers and community physicians to improve knowledge and management of these diseases. Experimentation of these platforms by several participants (and their caregivers) has highlighted the need, often discontent, of a personalized management of physiotherapy for patients with neuromuscular diseases (MNM) and neurodegenerative diseases (Alzheimer's disease). As physical activity has a beneficial and protective effect of these diseases, and inactivity is one of the important risk factors in worsening symptoms contributing to the loss of patients' motor and cognitive functional abilities, a program of self-physical rehabilitation has been designed by neurologists and physiotherapists of expert centers for a personalized and adapted treatment for each patient. The PROSOL TELEKINECT project offers a physical rehabilitation program to be carried out autonomously at home, with coaching by physiotherapists via the telemedicine platform, as well as close monitoring of exercise response regarding the level of pain and fatigue of patients, thus ensuring their maximum safety. The objective of the PROSOL TELEKINECT project is to evaluate the value of an appropriate physical rehabilitation programme for each type of patient. The feasibility and beneficial effects of this program will be assessed using conventional assessments of motor function and patient quality of life, but also using a connected watch coupled with artificial intelligence algorithms to collect and analyze physiological data remotely in real time in the patients' natural environment. The results of this pilot study will be used to lay the foundation for a larger clinical study to test a new digital strategy for self-treatment rehabilitation, aimed at reducing unequal access to care for patients with neuromuscular and neurodegenerative diseases, and residents of transboundary territories, thus offering the establishment of a preventive and supportive approach to these diseases.
In the last 10-15 years, a better understanding of the pathophysiology and molecular genetics of SMA has led to the emergence of previously unavailable pharmacological and genetic treatments.One of these new treatments, Nusinersen, targets SMN2, which is a slightly different copy of SMN1, and increases SMN protein levels. Preclinical studies have provided evidence that neuroprotection is strongly formed, with exercise significantly increasing motor neuron survival independent of SMN expression. In a limited number of clinical studies prior to Nusinersen treatment, it was reported that aerobic exercise training improved maximum oxygen uptake (VO2 max) without causing muscle damage, but still caused fatigue. The aim of this study is to determine the effect of aerobic exercise training on motor and respiratory functions, exercise capacity, fatigue and quality of life in SMA Type III patients who can walk and receive Nusinersen therapy. Twenty cases aged 10-50 years with genetically confirmed SMA diagnosis will be included in this study. The cases to be included in the study will be randomized into 2 groups as the training and control groups. In addition to the routine physiotherapy program, medium-intensity Aerobic Exercise Training will be given to the study group for 12 weeks. Before and 12 weeks after the training, the cases will be evaluated with the Six Minute Walking Test, Submaximal Exercise Test, SMN protein level, function and strength assessments, (FVC) value, fatigue and quality of life scales. In clinical trials, the supporting evidence for aerobic interventions in SMA is limited. Additional studies on aerobic intervention parameters (frequency, intensity and duration) are needed.The results of this study will determine the feasibility of aerobic exercise training and provide important guidance for the clinical management of SMA patients.
The aim of the investigator's study was to investigate translating the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old and using it in clinics reliably and validity with a Turkish version of the PedsQL Generic Core (Pediatric Quality of Life Questionnare) in children with Spinal Muscular Atrophy in Turkey
AOC 1001-CS2 (MARINA-OLE) is a Phase 2 extension of the AOC 1001-CS1 (MARINA) study to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of multiple-doses of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) patients
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.