Active clinical trials for "Neuromuscular Diseases"

Dysfunction due to weakness in respiratory muscles is one of the biggest problem that causes mortality and morbidity in neuromuscular diseases.Since the NMD have a crucial life-threading natural progression, many clinicians and researchers are trying to working out to increase life span and/or quality of life with medical and rehabilitative approaches.The relationship between upper extremity functions and respiratory functions in pediatric neuromuscular patients is still not clear. The clinician working with children with neuromuscular disease should be aware of the effects of muscle weakness and cognitive dysfunction on the respiratory system. Symptoms can be insidious and cause progressive loss of function, respiratory failure, and even death

The aim is to evaluate the correlation of quantified fibro-adipous infiltration of muscles, using the MRI-based Mercuri score, with deficiencies, activity limitations and social participation in patients with arthrogryposis multiplex congenita.

A Quality work was conducted to enable the future construction of a Quality of Life Questionnaire Related to Health (HRQoL) in patients with slowly progressive neuromuscular disease (NMD) as myopathies and muscular dystrophies. The discussion group training is an effective method to perform a thorough investigation of aspects of HRQoL potentially altered by NMD. Patients were recruited in France by 4 reference centers MNMs. All verbal interactions between participants focus groups were recorded. A qualitative analysis of the transcript was performed. The transcript provided 2424 CIF categories. The results helped to identify and quantify aspects of life that are altered by NMDs between patients. A pool of 64 items and a validated questionnaire (the WHOQOLBREF) were thern passed by 159 patients enrolled in eight reference centers MNMs. The investigators constructed a questionnaire called QoLNMD which is composed of two general items and 24 items classified into three areas: (1) \ Impact bodily symptoms, "(2) \ Self-perception" and (3) \ Activity participation. "Each area has good psychometric properties (Cronbach's alpha> 0.77, test-retest ICC> 0.81, H Loevinger> 0.41) and met the assumptions of IRT. the comparison with the WHOQOL-BREF was used to assess similarities and differences with a generic questionnaire. The next step was to validate the QoLNMD reassessing its psychometric properties in a new patient sample and calibrate the IRT measurement system. The purpose of these new part of study was to validate the French version of the QoL-NMD on a confirmatory sample of patients and to calibrate its measurement system. A prospective study in 8 NMD referral centers (France) was conducted. Both the QoL-NMD and a validated generic questionnaire (the WHOQOLBREF) were administered to patients. 156 patients were included for the confirmatory psychometric analysis. All three domains showed adequate psychometric properties and met IRT assumptions. The IRT model calibration was then performed successfully on 315 patients. The French version of the QoL-NMD showed adequate psychometric properties and can be used in rehabilitation services. A conversion table enables easy transformation of sum scores into IRT-calibrated measures. Minimum detectable change tables help interpreting score change.

Neuromuscular disorders can be associated with swallowing dysfunction secondary to a dysfunction of the airway muscles involved in swallowing. The investigators have shown that respiratory failure may contribute to swallowing dysfunction in patients with neuromuscular respiratory failure. Furthermore, although tracheostomy has been reported as impairing swallowing, the investigators have shown that when a tracheostomy is performed in neuromuscular patients, swallowing improves because it allows the patient to feed while ventilated. The investigators now want to evaluate whether non invasive ventilation may have a beneficial impact on swallowing by making some adjustments to ensure a good synchronisation between ventilation and swallowing. This could allow avoiding the necessity of a tracheostomy or a gastrostomy due to swallowing dysfunction and/or malnutrition in neuromuscular patients. Swallowing improvement under mechanical ventilation depends on improving the synchronisation between the patient and the ventilator during swallowing. For that purpose, the investigators developed a prototype ventilator able to temporarily suspend pressurisation under the patient's control so that when the patient needs to swallow under mechanical ventilation he may do so with an inadequate insufflation of the ventilator. Our objective is to to demonstrate that swallowing is more adapted and easier under nasal noninvasive ventilation than during spontaneous breathing in neuromuscular patients requiring prolonged noninvasive ventilation. In an open monocentric pilot study, the investigators will study 10 neuromuscular patients usually noninvasively ventilated. The patients will be their own control and their swallow will be studied during spontaneous breathing and under ventilation with the adapted ventilator while swallowing boluses of different volumes.

Lay Summary Patients with severe neuromuscular develop hypoventilation, which leads to elevated carbon dioxide levels. Measuring only oxygen saturation levels with pulse oximetry may be inadequate. End tidal carbon dioxide levels or arterial blood gases should be measured periodically, depending on the clinical condition of the patient. A thorough review of systems will help define any problems. Patients who are hypoventilating often have elevated carbon dioxide levels at night and complain of a morning headache, restlessness or nightmares, and poor quality sleep. This may cause daytime sleepiness. Insufficient respiration with hypoxia may occur later, especially if the lung is damaged by chronic aspiration. We propose to evaluate the use of the Nonin LifeSense monitor in home evaluation of respiration, oxygen level, heart rate, and carbon dioxide level and to develop interpretation of the results that will lead to appropriate interventions for apnea, and insufficient respiration. Relevance to MDA Fewer than one per cent of the Muscular Dystrophy Association have pulmonologists as co-directors.Late referral of progressive restrictive lung disease leads to invasive support of respiratory failure. Early initiation of non invasive ventilation techniques requires patience on the part of the caregiver and exploration of mask interfaces and ventilation techniques. In addition, the development of new therapies, currently manifested through enhanced diagnostic accuracy, will require new signal for initiation and in the assessment of success or failure. Aims Aim 1. To assess the utility of a small portable device (LifeSense Monitor Nonin Medical Inc. Plymouth Minnesota) with extended recording capabilty to provide accurate diagnosis of hypoventilation. Aim 2. To provide an easily interpretable report defining sleep hypoxemia, hypercapnea, and apnea. Aim 3. To promote early evaluation and treatment of the respiratory problems in centers that do not have pumonologists as these are essential to prognosis, whether of survival or of quality of life, in neuromuscular diseases.

Pneumonia, respiratory exacerbations, and chronic pulmonary infection are important causes of emergency admissions, hospitalisations and death in children with Neuromuscular disorders and Cerebral Palsy. Hence, there is a need for research on how to therapeutically aid airway clearance and decrease respiratory exacerbations. Studies have shown that nebulised Hypertonic Saline is well tolerated, reduces pulmonary exacerbations and improves lung function and Lung Clearance Index in patients with Cystic Fibrosis, and enhances mucociliary clearance in asthmatic patients. Nevertheless, to the investigators' knowledge, there is no available data concerning the use of nebulised Hypertonic Saline in the management of children with Neuromuscular disorders and Cerebral Palsy. This study aims to assess the effectiveness of nebulised Hypertonic Saline to decrease hospitalisations and courses of antibiotics in children with Neuromuscular disorders and Cerebral Palsy.

Monocenter study to determine and evaluate the optimal amount of humidification doses delivered by the On-Demand humidification system in neuromuscular patients requiring home mechanical ventilation. The patient's perception will be monitored with subjective as well as with objective measurements of the optimum comfortable on-demand humidification doses.

The primary aim of this study is to evaluate the agreement of MIE devices measurement of MIE assisted peak cough flow (PCF) compared with a pneumotachographs during usual MIE care. This will be the first study to do this through range of MIE pressures and include patients who are receiving MIE via a tracheostomy. It will also aim to evaluate the intra-subject repeatability of measures for patients who receive more than one MIE cycle as part of their usual care. It will be the first to measure MIE assisted PCF contemporaneously during intervention using the gold standard pneumotachograph. This will inform treatment effect size and the efficacy of usual practice MIE in augmenting PCF measurements above critical cut off values for effective cough and secretion clearance. Finally the study will also aim to understand how patients perceive the impact of MIE in clearing secretions from their chest by asking them to rate presence of chest secretions pre and post intervention using a visual analogue scale (VAS)

The purpose of this research is to develop tools enable people who are paralyzed to operate technology and access computers. These tools are called brain computer interfaces (BCIs). BCIs would let a person use brain signals to operate technology.

We want to demonstrate that modifications of the ventilation parameters are liable to improve the different characteristics of phonation (duration, intensity, prosody..) in neuromuscular patients who are dependent on non invasive ventilation.