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Showing 1-20 of 56 trials
NCT06672237
This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.
NCT07250737
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping. The patient's Administering Physician should follow the suggested treatment guidelines and comply with all local health authority regulations.
NCT07432035
The goal of this study is to compare changes in walking ability in people with Charcot-Marie-Tooth disease (CMT) who receive two different treatment approaches for foot deformities that affect walking. CMT is an inherited nerve condition that can cause muscle weakness, loss of sensation, and foot deformities. These changes often make walking difficult and can reduce independence and quality of life. Treatment options commonly include physical therapy alone or surgery to correct foot alignment followed by rehabilitation. However, it is not clear whether one approach leads to better long-term walking outcomes. The main question this study aims to answer is whether individuals who undergo functional foot surgery followed by rehabilitation experience different changes in walking ability over time compared with those who receive structured physical therapy alone. Researchers will compare walking performance between these two treatment groups over a period of up to two years. Walking ability will be evaluated using standardized walking tests and patient questionnaires. Participants included in this study are individuals with CMT-related foot deformities that affect walking and who received either surgery followed by rehabilitation or physical therapy alone. Researchers will analyze changes in walking ability over time and determine how many participants achieve meaningful improvement. The findings from this study may help clinicians and individuals with CMT better understand how different treatment strategies influence walking function over time.
NCT06560411
To evaluate the safety and effectiveness of the Automatic Expiratory Positive Airway Pressure (Auto-EPAP) feature versus manual expiratory positive airway pressure (EPAP) in the Vivo 45 LS Ventilator.
NCT06084026
This study measures the level of physical activity in participants with neuromuscular disorders. The patient wears a small button like meter on their leg for a period of 1 week every 6 months over a period of 3 years. Participants will also have a physical exam, six minute walk test,vital signs and questionnaires.
NCT06151600
This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J. The study will enroll 20 subjects of any age into a uniform protocol for follow-up and evaluations. Subject visits will occur every 12 months + 4 weeks for up to 2 years.
NCT07021638
Over the past 30 years, the prevalence of congenital or acquired chronic diseases in children has risen, affecting between 10 and 30% of them, or at least 100,000 children in France. Pathologies such as cerebral palsy (CP), neuromuscular diseases (NMD), obesity or congenital heart disease impact physical health by causing musculoskeletal, respiratory or cardiovascular deficiencies. These limitations influence their ability to participate in daily activities, affecting their quality of life and that of their families.To minimize these impacts, motor rehabilitation programs focusing on physical activity are proposed, but their effectiveness requires prolonged practice. However, these specific programs, often delivered in remote specialized centers, are difficult to access. Home programs have been developed to overcome these constraints. They enable children, with the support of their parents, to carry out therapeutic activities at home. Although their feasibility has been demonstrated, their effectiveness is relative. A multitude of protocols and tools have been tested, with no harmonization of practices.To support the implementation of home-based programs for children with CP or obesity, virtual reality has already been used, mainly on the basis of commercial solutions. This solution is therefore feasible and has proved relatively effective.With this in mind, and based on the user experience of children, parents and professionals, the investigators have initially co-developed with the French company EzyGain a connected treadmill specifically adapted to pediatric needs and the requirements of home programs. The AMY treadmill is a compact treadmill with on-board sensors and a safety system, communicating with a tablet application and a virtual reality headset.Taking into account the opportunities offered by this new technology, as well as building on the effects and features already known from home programs, the investigators have developed a new modality for home programs focusing on walking for children with CP, MNM and obesity, the EMMVIES program. The crucial step now is to investigate the feasibility, tolerance and clinical effects of this EMMVIES program.
NCT04866459
Neuromuscular Diseases (NMDs) affect \> 7 million people worldwide. NMDs are often difficult to accurately diagnose, with over 200 different genetic causes with overlapping clinical presentations. Muscle Magnetic Resonance Imaging (Muscle MRI) allows for non-invasive, comprehensive, and reproducible evaluation of disease-affected and spared muscles. The selective replacement of muscle tissue by fat is the main contributor to pathological patterns determined by T1-weighted Muscle MRI. Although the diagnostic utility of Muscle MRI has been emphasized in the last years, the very low incidence of NMDs (rate .01 to 15 per 100,000 population), and the challenge to attain sufficient sample sizes to study the imaging characteristics of these patients have limited their acceptance as first-line, non-invasive diagnostic procedures. The purpose of this study is to examine the selective pattern of muscle pathology as detected by MRI of different sub-types of NMDs and validate this technique as an important and helpful non-invasive diagnostic screening tool. This study will prospectively assemble a well-defined cohort of 1000 patients with NMDs undergoing whole body Muscle MRI from 7 Canadian and 7 international centers. It will develop a high-standard methodological approach for MRI diagnosis in this cohort, based on T1 weighted imaging characteristics, and will validate this method by testing the developed algorithm in a different cohort of patients. Muscle MRI scans will be collected by a well-established network of neuromuscular disease (NMD) centers to ensure comparability between the different centers.
NCT07223632
This is an 'N of 1', open-label, single center study to evaluate the safety of therapy with VCA-894A, an ASO designed to rescue and restore the activity of IGHMBP2, when administered by intrathecal injection.
NCT07136844
The ActiLiège-Adult study is a prospective, longitudinal, observational study designed to collect natural history data on adult patients with neurological or metabolic diseases affecting movement. Conducted at the Centre de Référence Liégeois des Maladies Neuromusculaires in Liège, Belgium, the study will enroll 300 ambulant patients, including individuals with neuromuscular disorders and obesity. Using the Syde® wearable device, the study aims to continuously monitor motor function in real-life settings over a period of up to two years. The primary objective is to evaluate the utility of digital mobility outcomes, such as the 95th centile of stride velocity (SV95C), as reliable and objective endpoints for future clinical trials.
NCT05366010
The study will be a non-randomized open label pilot study comparing a retrospective control period to an active treatment period with oscillation and lung expansion (OLE) therapy.
NCT06379932
Few studies have been conducted on pain assessment during and after open muscle biopsy. Furthermore, no clinical factors likely to influence pain perception during and after open muscle biopsy have been evaluated in previous studies.The proposed observational study aims to study pain perception in subjects over the aged of 18 years old who underwent an open muscle biopsy for a suspected myopathic disorder. Describing the main characteristics of pain during and after open muscle biopsy using a questionnaire will not only clarify this aspect, which is little studied in the literature, but will also provide information for improving analgesic management of the procedure.Studying the prognostic aspects of pain perception will give healthcare professionals an idea of which patients are at risk of suffering greater adverse effects from the procedure, so that they can be offered a personalised service in the future.
NCT05099107
Congenital myopathies (CM) is a large group of muscle disorders, presenting with hypotonia and non-progressive generalised muscle weakness, which can lead to motor developmental delay.More than 20 genes can cause CM and currently there is no curative treatment for this disorder. Case reports and a smaller study have previous reported that oral salbutamol has benefited subjects with different types of congenital myopathies by increasing their muscle strength.The exact effect of salbutamol in muscle cells isn't exactly known but it has been hypothesized to have an anabolic effect by triggering different pathways inside the muscle cells which increase cell proliferation, decrease apoptosis, decreases proteolysis and increases protein synthesis. The aim of our study is evaluate if daily oral salbutamol can increase the muscle function and muscle strength in these patients after 6 months on treatment, compared to no treatment.
NCT06573866
Work participation is essential for quality of life, providing purpose, social interaction, financial security, and shaping social status. Work participation is increasingly compromised in people with slowly progressive chronic disorders (hereafter referred to as progressive disorders). This negatively impacts their quality of life. Early work-related support, focused on sustainable work-retention, has the potential to enhance work participation in people with progressive disorders. Therefore, this study investigates the (cost)effectiveness of the Preventive Participatory Workplace Intervention (PPWI), a personalized work intervention to enhance sustainable work participation. The investigators perform an 18-month randomized controlled trial (RCT). In addition, the investigators perform a process evaluation and an economic evaluation alongside the RCT. 124 Dutch working persons with three types of movement disorders will be included: Parkinson's Disease (PD), cerebellar ataxia (CA) and hereditary spastic paraparesis (HSP) and with slowly progressive neuromuscular and mitochondrial disorders.
NCT03406780
HOPE-2 is a double-blind clinical trial evaluating the safety and efficacy of a cell therapy called CAP-1002 in study participants with Duchenne Muscular Dystrophy (DMD). Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during a 12-month period.
NCT06708468
The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders: Charcot-Marie-Tooth (CMT), Facioscapulohumeral Muscular Dystrophy (FSHD), and Myotonic Dystrophy Type 1 (DM1). The key objectives are: 1. To investigate if the intervention group experiences improvements in dynamic balance that are superior to the control group 2. To investigate if the intervention group experiences long-term improvements in dynamic balance that are superior to the control group during the follow-up 3. To investigate if improvements in dynamic balance are associated with improvements in physical activity, body composition, estimated motor units, metabolomics, muscle echnogenecity and volume, and other indicators of health and quality of life. This is a national study and will involve 120 individuals with rare-neuromuscular disorders from Norway's four health regions.
NCT05206617
The aim of the study is to investigate progression in muscle affection in patients with pathogenic variants in the anoctamin 5 gene to: 1. investigate possible progression of disease over time 2. investigate good and reliable outcome measures
NCT06381284
This is a fully remote, site-less, prospective, observational study enrolling adults in the United States (excluding U.S. territories) with undiagnosed neuromuscular symptoms. The main study objective is to evaluate the feasibility of a social media recruitment campaign tied to a participant reported symptom survey and self-administered physical assessment tool to influence undiagnosed participants to seek care for suspected Myasthenia Gravis (MG).
NCT05785546
Development and validation study of a prognostic score - study of prognostic performance by a prospective longitudinal multicenter cohort spread over 8 centers: 4 for the development cohort and 4 for the validation cohort).
NCT02829814
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.