View clinical trials related to Neuromuscular Diseases.
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Parents of children with neuromuscular disease have been already at risk of depression, anxiety and burden. Additionally, the daily lives of children with neuromuscular disease and their parents have been significantly affected by the COVID-19 pandemic. Therefore, this study investigated parents' perspective on the effect of the COVID-19 pandemic on children with neuromuscular diseases and themselves.
This is a Phase 1 2-part, single-center, open-label study in healthy male volunteers. Part A will assess the absorption, metabolism, excretion, and pharmacokinetics of one oral dose of radiolabeled EDG-5506. Part B will assess bioavailability of EDG-5506 with a single oral dose of EDG-5506 and a single intravenous dose of radiolabeled EDG-5506.
The implementation of an mechanical in-exsufflator device (MI-E) requires specific expertise because it is a complex device that requires fine-tuning of the settings according to different clinical situations to optimize its effectiveness. Generally, it is performed by experienced physiotherapists in neuromuscular disease reference centers or directly at home via medical-technical home care providers. Treatment data is recorded by the machine at each MI-E session, which may be daily or less frequent, depending on the patient's dependency. All of this information can be accessed by manually downloading the data from the SD card that comes with each MI-E machine. Therefore, the retrieval of this information systematically requires the visit of staff to the patient's home. To date, compliance with these devices is not regularly measured since there is no means of telecommunication allowing remote monitoring of these therapies, whereas technological development in the field of remote monitoring has allowed remote monitoring of patients with sleep apnea syndrome treated with continuous positive airway pressure (CPAP) and, more recently, of some patients with chronic respiratory insufficiency treated with invasive ventilation (NIV). These developments are transforming on the one hand the follow-up of patients under NIV at home by the medical and paramedical teams and on the other hand the financial coverage by the health insurance organizations (ETAPES programs). Within the framework of NIV therapy, we think that remote monitoring of the quality of the sessions, i.e. measurement of peak expiratory flow, insufflated volumes, frequency and duration of the sessions, could facilitate and improve the follow-up of these patients for the medical-technical providers, the expert physiotherapists and the doctors of the reference centers. It is still too early to assume the extent to which data from remote monitoring of MI-E devices would improve patient follow-up. Nevertheless, given the increasing number of devices installed over the past several years, it is likely that the issue of telemonitoring will become a central issue. Thus, in this observational trial, we propose to evaluate the feasibility of a simple system of remote monitoring of MI-E devices in non-therapy-naive patients, with the objective of assessing the barriers and limitations of remote monitoring in this population. Primary aim is to evaluate the feasibility of remote monitoring of data from the MI-E device used in the patient's home in neuromuscular diseases. Patients will be identified by the investigators using the AGIR à dom software package (medical-technical follow-up file). If the patient accepts, the information and no-objection form will be sent to them electronically or by mail following this call, and at least 3 days before their scheduled appointment. During the patient's usual follow-up visit, if the patient does not object to participating in the study, AGIR staff in dom will install the device. This visit will take place in the patient's home. During this visit, a SanDisk (SD) Eye-Fi SDHC 4GB + WiFi Class4 memory card will be inserted into the port provided, in place of the memory card already present in the MI-E device. Then a Raspberry Pi 4 Model B will be placed in the room where the MI-E device is normally used by the patient, and connected to a power source (accessible electrical outlet in the room). The wifi SD card, which uses the device's power supply, will communicate with the Raspberry Pi via the wifi network and upload the recorded data each time the MI-E device is used. After 90 days, a routine recovery visit will be scheduled. AGIR à dom staff will replace the wifi SD card installed during the D0 visit with the standard SD card originally provided with the MI-E device. The data locally on the SD Wifi card will then be downloaded for analysis and comparison with the data being uploaded
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.
The repeated bout effect (RBE) refers to the adaptation whereby a single bout of eccentric exercise protects against muscle damage from subsequent eccentric bouts. This effect has been shown in many muscle groups using both serum biomarkers, muscle soreness and imaging techniques. Though the effect is well described in healthy, it has never been studied in patients with neuromuscular diseases (NMDs). In healthy, the RBE is only described using eccentric exercise, but unlike healthy persons, patients with NMDs can experience significant muscle damage with concentric exercise. This raises the question, if patients with NMDs could also show RBE when performing concentric exercise.
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