Neuromuscular Diseases Nmd

A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1044 for the treatment of Duchenne Muscular Dystrophy (DMD) with Gene Mutations Amenable to Exon 44 Skipping

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.

In people with chronic hand conditions, hand orthoses are frequently prescribed to improve performance in activities of daily living (ADL). Conventional hand orthoses are custom-made on a plaster cast of the hand, a process that is time-consuming and labor-intensive. It has been demonstrated that the production time of manufacturing hand orthoses can be reduced by using 3-dimensional scanning and printing (i.e. 3D-printed hand orthosis), offering a promising cost-effective alternative to conventional hand orthoses. The current study builds on a previously conducted feasibility study, which demonstrated comparable effects of 3D-printed and conventional hand orthoses on ADL performance, hand function, and quality of life in people with chronic hand conditions. User satisfaction and production time favored the 3D-printed orthoses. However, to date only small and self-controlled studies have investigated the effects of 3D-printed versus conventional hand orthoses for permanent use on ADL performance and orthosis satisfaction in chronic hand conditions. Evidence from randomized controlled trials and data on the cost-effectiveness are lacking. The aims of this study are: 1. To determine whether treatment with 3D-printed hand orthoses is non-inferior compared to treatment with conventional hand orthoses in terms of ADL performance, hand function, pain, quality of life and functional status in individuals with chronic hand conditions. 2. To assess whether treatment with 3D-printed hand orthoses results in greater patient satisfaction compared to treatment with conventional hand orthoses. 3. To assess the cost-effectiveness of treatment with 3D-printed hand orthoses compared to treatment with conventional hand orthoses.

The primary objective of this research is to collect clinical data and tissue samples from adult patients with neuromuscular disease cared for at the Northwestern Memorial Hospital neuromuscular clinic (Lavin Building, 19th floor). This study has the following aims: Aim 1: To consent a large cohort of adult study participants with neuromuscular disorders, including but not limited to motor neuron diseases, neuropathies, neuromuscular junction disorders, and myopathies for participation in the biorepository and to collect longitudinal data on their clinical disease phenotypes. Aim 2: To obtain and store biological samples from biorepository study participants, including whole blood, plasma, serum, peripheral blood mononuclear cells \[PBMCs\], skin biopsies, and cerebrospinal fluid. Aim 3: To develop a data-sharing process to provide de-identified biorepository participant clinical data and samples to partnered investigators to expedite discovery in neuromuscular disease diagnosis and treatment.

The purpose of the study is to assess the efficacy, safety, and tolerability of zeleciment rostudirsen (DYNE-251) administered intravenously (IV) every 4 weeks to ambulatory Duchenne muscular dystrophy (DMD) participants, 4 to 18 years of age, with dystrophin mutations amenable to exon 51 skipping.

A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1044 for the treatment of Duchenne Muscular Dystrophy (DMD) with Gene Mutations Amenable to Exon 44 Skipping

The aim of this study is to describe national trends over the past 10 years in patients receiving invasive home mechanical ventilation (HMV) in Denmark. This includes indications for invasive HMV, diagnostic groups, and one-year mortality.

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.

This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD). Due to motor unit impairments, NMD patients often cannot tolerate traditional exercise. WB-EMS bypasses voluntary activation limits by directly stimulating muscle contractions. Up to 50 adults with conditions like ALS, SMA, and MG will undergo 20-minute supervised WB-EMS sessions (1-2 times weekly for 4-8 weeks) using the Katalyst system. Outcomes include neural excitability (TMS), motor unit behavior (EMG, NCS), functional tests (walk, balance, strength), and patient-reported fatigue, pain, and quality of life. Strict safety monitoring and exclusion criteria are in place. This study will provide preliminary data on WB-EMS as a potential exercise modality for NMD.

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.

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.

The goal of this clinical trial is to investigate the effect of a muscle-mimicking, fabric-type shoulder orthosis on functional movements of the upper limb in patients with neuromuscular disorder. The main questions it aims to answer are: * What is the impact of the muscle-mimicking, fabric-type shoulder orthosis on upper limb functional movements in patients with neuromuscular disorder? * Are there observable differences in upper limb function when the shoulder orthosis is worn versus when it is not? Participants will: * Receive education on how to wear and use the shoulder orthosis. * Undergo evaluations, including assessment of upper limb performance, shoulder muscle strength testing, active range of motion measurements, assessment of functional workspace, goal attainment scale evaluation, surface electromyography, physiological measurements such as blood pressure and heart rate, fatigue assessment, and assessment for any musculoskeletal or skin-related issues. Researchers will compare neuromuscular disorder patients before and while wearing and operating the shoulder orthosis to see if there are any significant effects on variables such as upper limb function, range of motion, functional workspace, goal attainment scale, and surface electromyography.

Approximately 30 minutes after needle EMG, patients who are taking direct oral anticoagulants (DOACs) will undergo an ultrasound examination to evaluate for the presence of possible intramuscular hematomas at the muscles where the EMG needle was inserted. These hematomas are considered a potential adverse effect of needle EMG. The aim of the study is to determine whether needle EMG can be considered a safe procedure in this group of patients, without posing a risk of intramuscular hematoma formation.