View clinical trials related to Neuromuscular Disease.
Filter by: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.
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.
The investigators want to demonstrate that there is an optimal expiratory pressure when using mecanical in-exsufflation for each patient in neuromuscular disease. This compromise is between the need to generate a high pressure difference between alveoli and the mouth and the need to avoide and superior airways collapsus.
The purpose of this study is to compare the measure of the CO2 obtained on the end-tidal expiratory gas (ETCO2) with the value of CO2 obtained by transcutaneous measure (PTCO2), in home-ventilated neuromuscular patients.
Respiratory failure is the most common cause of death in neuromuscular diseases. The aim of this research is to evaluate the thoracopulmonary recruitment by comparison of inspiratory vital capacity (VC ins)and inspiratory/expiratory vital capacity (VC ins-ex) with the vital capacity (VC) according to pathology and severity of pulmonary damage of patients with neuromuscular diseases. The methodology consists in realize VC by support of inspiratory/expiratory pressures, while the patient is passive and realizing a maximal inspiratory/expiratory effort simultaneously, with the aid of mechanical insufflation/exsufflation device (Cough Assist®). The evaluation will last for 30 minutes and the non-inclusion criteria are those for an insufflation. The study hypothesis is that long term insufflation/exsufflation device use could improve thoracopulmonary mobility.
Patient reported outcomes (PROs) instruments are often used to measure meaningful treatment benefit or risk in clinical trials. PROs allow patients voices to be heard in ways that assist healthcare clinicians to address treatment effects and individual patient preferences. Unfortunately, infants and young children, especially those with a debilitating disease, such as neuromuscular disorders (NMD), may be less able to provide clear and concise information about treatment effects. In this case, we often defer to parents and guardians (to be referred to collectively as parents throughout protocol) to provide their perception of their child s overall health and wellbeing. Including parents in the assessment process recognizes the unique knowledge parents have of their child s development, reinforces their central role in implementing interventions, and aids in their ability to make better-informed healthcare decisions [1]. Yet, most parent-reports for young children are confined to overall quality of life (QoL). While QoL is an important area of assessment, its meaning varies among different ages and populations, and its results are often not precise enough to reveal small differences within samples [2]. A more specific area of concern in children with NMD is early-onset muscle weakness leading to difficulties in motor function. The current lack of patient-centered, sensitive measures (based on motor function and item difficulty hierarchy) that are suited for repeated assessments in infants and young children with NMD represents a major obstacle to the rapid translation of promising therapeutic interventions from preclinical models to clinical research studies. Multiple clinical outcome measures used at a single time-point for capturing a child s functional status are burdensome, difficult to interpret and do not provide us with comprehensive, meaningful information to detect changes following an intervention [3]. Psychometric measures that can be completed by parents make it possible to collect a considerable amount of data over many time-points rather than being limited to a single clinical observation. Moreover, a parent-observational measure that focuses on their child s functional performance in their real-life will maximize the ecological validity of measures of motor development used for clinical trials. Objective: To develop a parent reported observational measure of motor development in infants and young children, which will serve as a complimentary tool to clinical observation by reporting motor function as observed in the home setting and which will be used in clinical trials. Study population: Parents of children aged 0-5 with neuromuscular disease and neuromuscular experts in pediatrics. Design: Qualitative (parent interviews, focus groups) and quantitative study (analysis of newly developed questionnaire) Outcome Measures: parental responses to phone interviews, neuromuscular expert responses to focus groups, parental responses to cognitive interviews, validity and reliability of newly developed questionnaire
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.
The purpose of this study is to evaluate the safety of HLA-haplo matched Allogenic Bone Marrow Derived stem cells("HYNR-CS-Allo inj"), through intrathecal delivery for the treatment in patients with amyotrophic lateral sclerosis(ALS). This study is an open label, dose up and down study using the 3+3 design to assess the safety of HLA-haplo matched Allogenic Bone Marrow Derived stem cells("HYNR-CS-Allo inj")
The aim of this study is to determine whether respiratory disease exacerbations (a sudden worsening of symptoms) can be predicted by variables that are monitored by non-invasive ventilators (small machines that assist breathing) in patients requiring long term home ventilation. The investigators hypothesise that acute exacerbations of patients with respiratory disease and ventilatory failure will be predicted by changes in the respiratory variables monitored and stored by ventilators during chronic home ventilator use.
The purpose of this current prospective study is to assess the effects of a Therapeutic Riding exercise program conducted in patients suffering from neuromuscular disease. The exercise intervention aims at improving gross motor function, gross motor performance, balance, spasticity, posture and quality of life. Patients were randomized according to age, sex, mental ability and gross motor function. Furthermore, patients will be subdivided into categories of central nervous system (brain/ spinal cord) and peripheral (peripheral nerve or muscle) diseases. The exercise program duration will be 12 weeks, once a week with 30-40 minutes sessions. Six measurements will be conducted: the Gross Motor Function Measure, the Gross Motor Performance Measure, the Quality of life Questionnaire for Children, the Pediatric Balance Scale, the dynamic plate in combination with x-ray for posture control, the Modified Ashworth Scale for spasticity and the Wisc 3 for mental ability. The results will be collected and evaluated using the statistical programme SPSS.