Active clinical trials for "Neuromuscular Diseases"

For ambulatory children with DMD, physiotherapy is aimed at protecting ambulation, improving motor performance to the best level and increasing quality of life. The investigators think that the treatment of children with Duchenne Muscular Dystrophy may become more effective with physiotherapy programs based on the comprehensive physiotherapy evaluation results, including the evaluation of fear of falling. This study investigates the fear of falling in children with Duchenne Muscular Dystrophy and questioning whether their fear of falling affects their quality of life and their physical performance.

The purpose of this study is to determine whether breathing pattern (specifically the inspiratory time/total respiratory cycle value) has an influence over the response to the noninvasive mechanical ventilation.

Ventilation is a major treatment of respiratory failure due to neuromuscular disorders. First line treatment is noninvasive ventilation (NIV) but in some situations, especially in case of NIV inefficiency, invasive ventilation with tracheostomy (IVT) may be required. In both situations, patients may become dependent on ventilatory support with the disease evolution. Ventilation then can interfere speech and the quality of communication of the patients. Modification of the ventilation parameters may result in improved speech quality (for example, positive expiratory pressure (PEP) while not necessary for ventilation quality can dramatically improve speech in tracheostomized patients). Therefore, it would be of interest to allow patients to benefit from these specific parameters when they need to speak without maintaining them when patients are not speaking. We want to evaluate a specific ventilator feature which can detect speech and switch to specific ventilation parameters adapted for speech We believe that this feature will improve significantly speech quality in patients dependant either on NIV or IVT.

This study aims to evaluate perceived clinical and psychosocial experiences of patients and their families during the Covid-19 pandemic. it is important to understand the implications of the pandemic for this population, particularly given its likely protracted course, and resultant limitations to daily activities and clinical care. This will help clinicians plan support and adaptations to the services they provide in the medium to long term.

Our aim is to establish multi-center national Egyptian database of information for inherited and acquired neuromuscular diseases in infants and children from 0 to 18 years of age.

Muscular dystrophies are neurologic disease with higher morbidity and mortality. Cardiac function and respiratory muscles can be affected, in addition with skeletal muscle deficiency . Lung function is classically assessed with functionnal pulmonary tests (FPT) . Ultrasound recently emerged as a non-invasive tool to assess diaphragm function. The aims of the study are: to provide the spectrum of diaphragm ultrasound in patients with muscular dystrophies to assess the correlation between diaphragm ultrasound and FPT to assess the correlation between diaphragm ultrasound and cardiac function

Muscular dystrophies are neuromuscular disorders with disability. Restrictive pulmonary failure and cardiomyopathy affect prognosis.The investigators aim to establish predictive factors for mortality and morbidity in Intensive care unit (ICU ) and to describe the long term follow up after ICU discharge.

The aim of this study is to better discriminate respiratory muscle dysfunction by comparing the measurements of thoracoabdominal motion obtained by an optoelectronic recording and the conventional tests of respiratory muscle strength. The final objective is to better select in the future the patients who need more specific assessment of diaphragmatic function like "maximal transdiaphragmatic pressure" measurement and "phrenic nerve stimulation".

To better characterize the neonatal hypotonia associated with in utero exposure to antidepressants, so far limited to clinical cases, we will perform an observational retrospective pharmacovigilance study, using two databases. First, disproportionality analysis in Vigibase®, the World Health Organization global database, will be perform between antidepressant drugs and neonatal hypotonia . Second, narratives from the French National Pharmacovigilance Database will be extracted.

This exploratory observational study evaluates autonomic function using measures including heart rate variability in adults with childhood-onset neuromuscular and neurological disorders (NMD) who use non-invasive ventilation (NIV) as part of their long-term care. Autonomic function will be correlated with measures of symptom burden, disease severity and complications.