Active clinical trials for "Neuromuscular Diseases"

This Phase 3 trial (Study SRK-015-003) is being conducted in patients ≥2 years old at Screening, who were previously diagnosed with later-onset spinal muscular atrophy (SMA) (i.e., Type 2 and Type 3 SMA) and are receiving an approved survival motor neuron (SMN) upregulator therapy (i.e., either nusinersen or risdiplam), to confirm the efficacy and safety of apitegromab as an adjunctive therapy to nusinersen and evaluate the efficacy and safety of apitegromab as an adjunctive therapy to risdiplam.

In the context of neuromuscular diseases, the weakness of the respiratory muscles makes difficult to manage periods of congestion due to a less effective cough. It exposes the patient to bronchial superinfections that may require hospitalization. The use of cough assistance is therefore essential in order to avoid acute situations such as bronchial superinfections. Mechanical Insuflation-Exsufflation (MI / E) is an instrumental technique commonly used by therapists in a hospital or at the patient's home in order to facilitate the airway mucus clearance. The choice of the pressure settings of the IM / E is a decisive point because it conditions the effectiveness of the generated cough. It'is important to take into account the presence of any collapse in the use of IM / E in order to ensure the most effective cough given by the patient. Actually, except the common impression of the physiotherapist and the patient, there is no "simple" way for detecting and objectifying the threshold of collapse in the upper airways. The aim of this study is to compare two modalities for the regulation of the level of the MI-E exsufflation, taking into account the presence of a collapse: a subjective "S" adjustment based on the clinical judgment of the therapist and the patient and an objective "O" adjustment based on the flow-volume curve generated during the cough.

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 goal of this clinical trial is to analyze the usability and safety of the prototype gait exoskeleton EXPLORE V2 in children with neurological and neuromuscular disease. Participants will use the exoskeletons in their home and the community and variables regarding safety and usability will be measured and recorded.

The purpose of this multicentric study is to assess the rehabilitative effect derived from the use of the ATLAS exoskeleton in children with neuromuscular diseases or cerebral palsy and with a level of less than 3 or less in the Functional Ambulation Classification (FAC) as a consequence of their disease, as well as the assessment of other physical, functional and quality of life parameters of interest. For this purpose, the exoskeleton will be used as a rehabilitation and walking assistance tool. Before starting the study programme and if deemed necessary, a preliminary phase consisting of 1 to 3 sessions will be carried out during which the patient will be shown the exoskeleton for the first time and it will be considered whether any improvements to the different parts of the device or the software are necessary to increase the ergonomics and comfort of the patient.

The TOPAZ study will assess the safety and efficacy of SRK-015 in later-onset Spinal Muscular Atrophy (SMA Type 2 and Type 3) in pediatric and adult patients.

The ONYX study is an Open-Label, Multicenter, Extension study that will evaluate the long-term safety and efficacy of Apitegromab in Patients with Type 2 and Type 3 SMA who have completed TOPAZ or SAPPHIRE.

This study will clinically evaluate a newly developed respiratory monitor - pneuRIP. The pneuRIP uses Respiratory Inductance Plethysmography (RIP) bands to measure key breathing indices non-invasively. This study compares the pneuRIP to an existing Respitrace system (Carefusion, Yorba Linda CA). 10 normal children and 10 children with breathing difficulties will be monitored with both systems.

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).

Background: - Electrical impedance myography (EIM) is a new technique being studied to see if it is helpful in evaluating muscle disorders and nerve disorders. EIM looks at how a mild, painless electrical current travels through muscles. Researchers want to gain experience in using the EIM device. They will collect information on the results of using it on people with and without nerve and muscle diseases, and compare that with information from other standard tests. First, they will test the device on healthy people. Then they will test people with a variety of neuromuscular diseases. Because the test is noninvasive and not painful, researchers will test both children and adults. Objectives: - To gain experience using the EIM muscle testing device. Eligibility: Healthy volunteers at least 2 years old. Individuals at least 2 years old who have neuromuscular disease. Design: Participants will be screened with a medical history and physical exam. Participants will have one 2-3 hour clinic visit. Researchers may request follow-up visits. Participants will be tested with the EIM device. The device and small electrodes will be placed on their skin. An electric current will pass through the device, but the participants will not feel this. Participants may have an ultrasound test. A gel will be put on their skin, and a device will be moved over the skin. Participants may have a nerve test. Electrodes will be placed on their skin, and they will feel a small shock. Participants may have a test where a thin needle is inserted in their muscle.