View clinical trials related to Neuromuscular Diseases.
Filter by:Using an extensive set of both volitional and non-volitional tests of respiratory muscle function and strength it is the aim of this study to - identify disease-specific patterns of respiratory muscle impairment in different NMD and COPD - establish which set of tests is predictive of sleep-disordered breathing or daytime hypercapnia in patients with NMD or COPD, respectively. - to investigate the decline of respiratory muscle function in patients with progressive NMD and COPD along with sleep studies and capnography
This study will clinically evaluate a newly developed respiratory monitor - pneuRIP. The pneuRIP uses Respiratory Inductance Plethysmography (RIP) bands to measure key breathing indices non-invasively. This study compares the pneuRIP to an existing Respitrace system (Carefusion, Yorba Linda CA). 10 normal children and 10 children with breathing difficulties will be monitored with both systems.
It is the aim of this project to develop and validate a German language screening questionnaire for symptoms of respiratory muscle weakness and sleep-disordered breathing (SDB) in patients with neuromuscular disorders.
Previous studies showed modifications of muscle oxygenation parameters in muscular dystrophies du to an impairment or an absence of dystrophin. Our study aim at assessing muscle oxygenation during effort in different neuromuscular diseases (muscular dystrophies related and not related to dystrophin, non dystrophic myopathies and motor neuron diseases) compared to a group of healthy controls. Patients and controls are invited to perform an inframaximal , standardized effort of the knee extensors by the mean of an isokinetic dynamometer. Muscle oxygenation parameters are assessed through a Near Infrared Spectroscopy (NIRS) Device. In patients affected by dystrophin related myopathies, a muscle biopsy will be performed in order to analyse mitochondrial oxygenation parameters and mitochondrial phenotype. Our Hypothesis is that muscle oxygenation is impaired in dystrophin related muscular dystrophies compared to other neuromuscular diseases and healthy controls because of lack of muscle capillary vessels dilatation during effort and impairment of mitochondrial function.
The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.
The studies conducted so far concerning the medical and paramedical cares provided to patients with profound and multiple disabilities (PMD) often show important limitations: samples are too small or very heterogeneous, generally constituted of children only; studies are mainly cross-sectional and retrospective, focusing on very specific issues instead of assessing health and quality of life from a more global perspective… So far, the investigators found no published data from a prospective cohort study involving a representative sample of patients with PMD. The present project aims to set up such a cohort so as to describe for the first time the natural history of French patients with PMD as well as the cares they receive at home or within the different dedicated structures in France. This cohort will also make it possible to identify the factors responsible for differences in the cares patients are provided, the consequences of these differences on their health and their quality of life (and those of their relatives) as well as the evolutions of these data over time. It will then allow for assessing the effectiveness of the French healthcare system to care for patients with PMD as well as building a frame of reference regarding the best cares to provide to these patients. The primary goal of this study is to identify the determinants of health among patients with PMD.
The long-term effect of LIAM (Lung Insufflation Assist Maneuver) on respiratory performance in home non-invasively ventilated (NIV) patients suffering from neuromuscular disease will be assessed in a prospective, randomized, cross over, open label study
This project is a retrospective and prospective investigation of neuropsychological and psychosocial development of children with a neuromuscular disease.
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.
Neuromuscular diseases are frequently associated with respiratory failure, which requires Non Invasive Ventilation (NIV). Currently, the NIV installation is done during an hospitalization of several days. This hospitalization is problematic because of availability of beds, logistical difficulties for the patient and estrangement from the usual environment. For this reasons, the NIV installation at home could be an interesting alternative for both the patient and the medical staff. The aim of this pilot study is to test the feasibility of NIV installation at home, using telemedicine as a remote monitoring tool, and to assess its impact on the ventilation compliance.