View clinical trials related to Neuromuscular Diseases.
Filter by:The goal of this study is to learn if Multispectral Optoacoustic Tomographs (MSOT) works to diagnose and follow the course of neuromuscular diseases (NMDs) in children. MSOT scans will be obtained from muscle region to measure hemo/myoglobin, collagen and lipid content/signal and oxygenation in patients with neuromuscular diseases. No additional research activities -other than MSOT - will be done during this study. Existing clinical, laboratory and imaging data from standard-of-care procedures will be correlated with the MSOT data. The expected total duration of the study is approximately 36 months. Repeated measurements will be done to evaluate disease progression and the value of MSOT in NMD.
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.
The study is an open, prospective, single center clinical observational pilot investigation. The aim is to compare the carbon dioxide values measured by the IscAlert sensor, which is inserted in proximity to the nasal mucosa. The study wants to investigate if the nasal mucosa application and measurements are feasible, what kind of possible complications such a measurement can cause, and if the measurements can be a surrogate marker for systemic carbon dioxide values.
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.
Research Aim: This study investigates whether a 12-month treatment with hypertonic saline (salty water) can reduce antibiotic use in individuals with neuromuscular disease or cerebral palsy who frequently experience chest infections due to difficulty clearing mucus from their airways. Methodology: Participants will be randomly assigned to receive nebulised hypertonic saline (7% salt in water) or normal saline (0.9% salt in water). The study is open-label as both participants and researchers are aware of the treatment, necessary due to the differing tastes of the solutions. Two centers, Royal Brompton Hospital in London and Queens Medical Centre in Nottingham, will conduct the research. Before starting the treatment, participants will undergo various assessments, including questionnaires to measure quality of life and treatment satisfaction, sputum/throat swab collection, lung clearance index, forced oscillation technique, electrical impedance tomography, and lung ultrasound. Once these assessments are completed, participants will take the assigned treatment at home, administered twice daily for 12 months, with monthly follow-ups regarding difficulties and chest infections. After 12 months, the treatment will cease, and participants will repeat the assessments. Significance: This research will provide valuable insights into the efficacy of nebulised hypertonic saline for individuals with neuromuscular disease or cerebral palsy, potentially aiding both patients and doctors in making informed treatment decisions. Dissemination: The study's findings will be shared through publication in scientific journals and presentation at conferences.
The goal of this clinical trial is to learn how doing mechanical insufflation (MI) using a mechanical insufflator-exsufflator (MI-E) device affects breathing in early amyotrophic lateral sclerosis (ALS). This will be a single-center, single-arm study of MI in 20 patients with ALS at Penn. Based on prior research, we believe that 6-months of MI may slow decline in cough strength, measured as peak cough flow (PCF). Participants will perform MI using a device designed for mechanical insufflation-exsufflation (MI-E) known as the BiWaze Cough system. The BiWaze Cough is used for mucus clearance . It is connected to tubing and mouthpiece (or mask). The device will use programmed pressure and timing settings. An insufflation includes inflating the lungs for a maximal size inhalation before exhaling. The daily routine for the device includes 5 sets of 5 insufflations twice daily. Researchers will compare how use of MI in early ALS affects peak cough flow compared to 20 subjects who did not use MI in early ALS.
Parents of children with gastrostomy have problems with the selection and preparation of nutritional products and catheter care during home care. Parents express that they want to receive practical training in the process of home care of the child with gastrostomy, they want to communicate more with the team and they need continuous monitoring to solve the problems encountered effectively. In this context, it is aimed to establish an appropriate training programme for the care of children with gastrostomy, to provide counselling and follow-up. Digital health technologies are divided into different sub-branches. Mobile health applications constitute one of these structures. Mobile health applications are used in elective surgical interventions in pediatric surgery (tonsillectomy, hernia repair, circumcision, etc.) and in the home care process after organ transplantation. In pediatric surgery, many mobile health applications have been developed to support pain management, symptom monitoring, medication adherence, support care processes, postoperative follow-up and self-management processes. In mobile health applications, no mobile application has been found for the use of parents of children with gastrostomy. In Turkey, there is no known nursing study for the use of parents of children with gastrostomy. The aim of this study is to develop a mobile application for the care of children with gastrostomy and to determine the effect of the application on gastrostomy complications, care burden of parents, self-efficacy and anxiety level.
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).
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 this study is to assess the impact of individually planned therapeutic procedures, using, among others, the concept of EMG biofeedback, to improve the general functional state, selected motor activities, stimulation and strength of specific muscle syndromes as well as postural parameters in children, adolescents and adults with neuromuscular diseases.