View clinical trials related to Neuromuscular Diseases.
Filter by:This investigation is designed to evaluate the performance, comfort and ease of use of the Simplus and Eson masks amongst NIV patients who are currently on Bi-level therapy
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.
Different tools may be used to monitor the efficacy of home mechanical ventilation. Investigators aimed to compare the prognostic value of the different data obtained by capno-oxymetry in a mechanical ventilated neuromuscular disease's population.
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.
Neuromuscular diseases (NMD) are characterized by a reduced maximum insufflation capacity (MIC), which contributes to increased morbidity and mortality from respiratory diseases. Techniques such as glossopharyngeal breathing (GPB) and insufflation using a manual resuscitation bag, or "air stacking (AS)", can be used to increase the MIC. These techniques employ different mechanisms, and the ability to learn the technique plays a key role in its proper implementation and effectiveness. The objective is compare the effects of AS and GPB on the MIC in patients with NMD. Children and adolescents with NMD who were users of non-invasive mechanical ventilation were recruited. Vital capacity (VC) and MIC were measured prior to and after the intervention with AS and GPB. Values were compared pre- and post-intervention and were considered statistically significant if p <0.05.
The use of low-dose CBP dosed nightly at bedtime for FM was supported by the results of Tonix' TNX-CY-F202 Phase 2b study (also referred to as the BESTFIT Study). The TNX-CY-F202 study provided strong evidence that TNX-102 SL 2.8 mg dosed nightly results in beneficial effects upon pain, sleep and other FM symptomatology. The present trial is designed to assess the safety and efficacy of TNX-102 SL 2.8 mg tablets, taken daily at bedtime over 12 weeks to treat fibromyalgia.
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.
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.