View clinical trials related to Neuromuscular Diseases.
Filter by:Patients with neurological or neuromuscular diseases may need a long-term tracheostomy to improve their respiratory function. Bacterial flora and bacterial drug resistance in the respiratory tract have never been studied until then for this type of patient in spite of their frequent hospital stay, their regular exposition to antibiotics and their susceptibility to swallowing disorders due to their pathology. This study is based on a single tracheal aspirate within the 48 first hours of the patient stay for a ventilation check up beside any infectious context to describe the basal bacterial respiratory flora.
Background: - Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common non-dystrophic muscle diseases that people are born with in the U.S. They affect development, muscles, and walking. Researchers want to test a new drug to help people with these diseases. Objectives: - To see if the drug N-acetylcysteine decreases muscle damage in people with RYR1-RM. To see if it improves their exercise tolerance. Eligibility: - People age 7 and older with a confirmed genetic diagnosis of RYR1 or a clinical diagnosis of RYR1 and a family member with a confirmed genetic diagnosis. Design: - Participants will be screened with a checklist of criteria. Adult participants may have a muscle biopsy. A needle will remove a tiny piece of muscle in the lower leg. - Study visits will take several days. - Visit 1: - Medical history - Physical exam - Blood, urine, and saliva tests - Questions about symptoms and quality of life - Heart, lung, and walking tests - Muscle Oxygenation Capacity Test. A blood pressure cuff around the thigh will be tightened for up to 10 minutes. - Biodex testing, stretching the leg against resistance - Muscle ultrasounds. A probe will be moved over the skin. - Participants may be photographed or videotaped during procedures. - They may have a muscle biopsy. - Six months later, visit 2 will repeat visit 1. Participants will start taking the study drug dissolved in water or placebo three times a day for 6 months. - Participants will stay at NIH for 2 days after starting the study drug. - Participants will be contacted by phone during the study to monitor side effects - Six months after starting the study drug, study visit 3 will repeat some or all of visit 1.
Different definitions of nocturnal hypoventilation are used in the recent literature. The investigators aimed to compare the prevalence of nocturnal hypoventilation in a neuromuscular disease's population according to different definitions issued from the literature.
Children with neuromuscular diseases (NMDs) and weak chest muscles suffer frequent chest infections, hospital admissions and reduced life expectancy. Physiotherapy is widely used but there is limited research data to support choice of therapy. The investigators will study the clinical value of the three most commonly used chest physiotherapy devices in children with NMD's by measuring lung function tests before and after each of the three treatments. This is a pilot study. The best device will be selected for a long term study of early physiotherapy intervention in children with NMDs. The treatments that have been developed to break the cycle of decreasing lung volume and poor secretion clearance, in children with NMDs, are all based on the same logical but unproved theory of treatment: 1. The loss of lung volume is reversed by applying positive pressure to the lungs via a face mask - literally reinflating the lungs with pressure. The three devices the investigators will test all provide positive pressure assistance during the inspiratory phase. 2. The temporarily increased lung volume then allows higher expiratory flow rates which helps to clear secretions. The expiratory phase is assisted by manual chest compression or, in one device, helped by application of negative pressure during exhalation. All three devices that the investigators wish to compare follow this two-step approach. The hypotheses behind our study are: 1. Treatments combining positive pressure inhalation with assisted coughing during exhalation, will produce measurable improvements in lung volume and expiratory cough flow rates when tested in children with NMDs. 2. One of the three devices tested will be superior to the others. This will provide research-based justification for a long term study of the value of early intervention in children with NMDs.
the objective of this protocol is evaluate the safety and tolerance of a communication system for severely disable patients with myopathies. The system analyses the brain electric activity in real time and converts it into digital commands for a spelling device, which is refered to as the P300 speller in the scientific literature. The secondary objective is to compare the performance of such tool with a more traditional assistive technology for the communication of severely disabled patients : scanner systems.
It was decided to develop a comprehensive disability score specifically designed for patients receiving prolonged mechanical ventilation (PMV); the collection of information included in the score should not impose any further intervention beyond what is routinely performed. So a new questionnaire was created (called the Multi-INdependency Dimensions (MIND) that included 3 sections (nurse, physiotherapist and medical doctor), 11 categories and 18 items. Each question was adapted to have a 5 item Likert scale. The primary objective of the study will be to evaluate the psychometric performance of the MIND score in terms of validity, reliability and sensitivity to change over time. The secondary objective will be to assess the inclusion of biological markers on the overall performance of the MIND score
Respiratory failure is the main death cause in muscular diseases. Non-invasive and volitional measures of inspiratory muscles strength include the nasal pressure with an occluded nostril and the maximal inspiratory pressure (PImax).Unfortunately, volitional maneuvers depend of patient effort. The mean of this reseach is to validate a non-invasive and non-volitional technique to evaluate diaphragm strength at muscular diseases patients.The methdology consist to compar PImax measure to nerves magnetical stimulation maneuvers measure.
Fatigue is present in at least 60% of the patients with a muscle disease and can be the most disabling symptom. In combination with other impairments, this often results in low levels of physical activity and decreased social participation, leading to large societal costs. Energetic is a self-management group program aimed at improving participation and physical endurance in these patients. Our hypothesis is that Energetic results in improved participation and improved physical endurance, less experienced fatigue and better quality of life compared to usual care, without increasing health care costs.
Background: - Neuromuscular diseases (NMDs) do not have cures. But future treatments will try to improve the health-related quality of life (HRQoL) in people with NMD. Computer questionnaires can help test HRQoL in people with NMD. They could help clinicians and researchers know how people with NMD and their caregivers are doing. They could also help show if treatments are making a difference. Researchers want to make sure two of these questionnaires PROMIS (Patient Reported Outcomes Measurement Information System) and Neuro-QOL (Quality of Life in Neurological Disorders) work the same way every time. They also want to make sure the questionnaires test the same things every time. Objective: - To make sure the PROMIS and Neuro-QOL questionnaires are valid. Eligibility: - Children age 8 17 who have NMD. Also, caregivers of children age 5 17 who have NMD. Design: - Participants will complete the PROMIS and Neuro-QOL questionnaires on a computer. The caregiver and child versions are not the same. - Participants will complete the questionnaires at the beginning of the study. It will take about 15 20 minutes. They will complete the questionnaires again after 2 4 weeks. They may receive phone or email reminders. - Participants will complete the questionnaires at the NIH outpatient clinic and/or on their own device. At NIH, they will use a computer or tablet.
A retrospective study with the patients having a positioning consultation at hospital, between 2009 and 2014. In every neuromuscular disorder, the investigators describe the population seen in consultation, the aim of consultation, the postural problem observed in wheelchair, pain when sitting in wheelchair, and pressure ulcer.