View clinical trials related to Neuromuscular Diseases.
Filter by: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.
The frequency of severe forms of COVID-19 is higher in people with neuromuscular disease and in severe cases and long hospital stays, the disability of some neuromuscular patients may worsen due to prolonged bed rest . Finally, the symptoms of certain diseases such as myasthenia gravis can worsen after an infection such as COVID-19. Thanks to an unprecedented research effort, vaccines are now available and others still in development. The first studies published in medical journals are reassuring about the efficacy and safety of these vaccines. However, they have been studied in the general population and we do not yet have specific information in neuromuscular patients. This is the reason why the Va-C-NEMUS observatory was launched.
The aim of this study is to identify factors for shoulder instability in people with Facioscapulohumeral dystrophy (FSHD). FSHD is a non-life limiting condition with symptoms presenting in the second decade of life (Evangelista et al., 2016). Between 2500 to 3000 people are diagnosed with FSHD in the UK and it is the third most common dystrophy. The overall prevalence is 1: 20,000 and on average 52 people are newly diagnosed with FSHD each year (Emery, 1991; Padberg et al., 1995; UK, 2020) As the disease progresses, patients lose the ability to adequately control muscles around the shoulder girdle, possibly contributing to the development of shoulder instability i.e. partial or complete dislocation of the shoulder joint (Bergsma, Cup, Geurts, & De Groot, 2015; Bergsma, Cup, Janssen, Geurts, & de Groot, 2017; Mul et al., 2016). Loss of control around the shoulder is also thought to contribute to pain and a reduced capacity to perform tasks above shoulder height. Additionally, the development of fatigue and chronic pain further limit patient's abilities and engagement with rehabilitation. If we better understand the mechanisms associated with instability, we can better target physiotherapy interventions to improve rehabilitation. If we identify specific patterns of activity associated with instability, these could be addressed through personalised and improved exercise prescription and rehabilitation. Additionally, we may identify causes of instability for which physiotherapy or exercise programmes may not be appropriate, therefore ensuring patients are referred to the correct service in a timely manner, improving patient outcomes and allocating resources more appropriately.
Overview of study. This is an observational study that is intended to provide the first in-human data using EIT as a biomarker of muscle health in neuromuscular conditions. We will seek patients with neurological disorders (both neuromuscular and other neurological conditions) as well as healthy subjects for study. EIT measurements will be performed on appendicular muscles (in the upper and lower extremities) depending on the condition, both at rest and with contraction. EIT measurements will be repeated on an intermittent basis to assess repeatability as well disease progression or improvement over time.
Neuromuscular diseases include more than 200 rare disorders affecting muscles or the nervous system. Functional scales assessing motor function are tools allowing to measure the evolution of motor impairment of patients with a neuromuscular disease. They are frequently used as main outcome measures in clinical trials which are currently in full development thanks to advances in genetic and drug researches. Among the available scales, the Motor Function Measure (MFM), a scale consisting of 32 items, had shown good metrological properties in terms of validity, reliability and sensitivity to change, regardless of the diagnosis and extent of motor impairment. By exploring the potential of digital technologies applied to MFM, investigators created a completion module composed of animations with different playful and informative scenarios displayed on a digital tablet. The main purpose of this project is to conduct a multicentre study to assess reliabilities of the MFM completed using the MFM-Play. Expected benefits of this project are to improve the experience and the participation of the children to who is often imposed multiple assessments during the numerous follow-up visits of clinical trials, while maintaining good metrological properties of the MFM.
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
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a powered knee-hip dermoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland) in patients with neuromuscular disorders, ii) Elaborate recommendations regarding usability criteria for safe and efficient use the device in patients with neuromuscular disorders (e.g. type and severity of patient's functional deficits), iii) generate necessary data to foresee a future study involving a home use of the device and assessment of long-term benefits.