View clinical trials related to Neuromuscular Disease.
Filter by:Background: Neuromuscular diseases (NMD) represent a broad group of rare genetic and acquired disorders, affecting over 300,000 people in Canada. Given the multiple different NMD subtypes, almost half of patients with NMD remain undiagnosed. Objective: The purpose of this study is to identify genetic or other markers in patient biosamples (e.g. blood, muscle, skin samples), electrodiagnostic studies or imaging that may help physicians and scientists provide faster ways to diagnose patients with NMD, study disease progression, and discover underlying disease mechanisms that may lead to future NMD therapies. Eligibility: Adults with NMD Design: Participants will have blood and/or tissue samples, and data from clinical information, imaging, and electrodiagnostic studies collected. Sample and data collection at the Neuromuscular Center, The Ottawa Hospital may include blood, DNA, saliva, cerebrospinal fluid, urine and stool samples, skin or muscle biopsy, and routine diagnostic imaging studies such as electrodiagnostic studies, ultrasound, and magnetic resonance imaging.
Our study is a randomized controlled study and the subjects included in the study will be divided into three groups as virtual reality training, biofeedback training, and conventional rehabilitation.
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 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
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 critical nature of respiratory diseases, the continuously increasing prevalence of these conditions, and the subjective perception of patients vis-à-vis their pulmonary function and health status underscore the importance of home telemonitoring. These conditions are critical and necessitate close and regular monitoring that may be achieved at distance using telemonitoring. This study will assess a number of measures both at baseline and post-intervention from a number of domains, including Arterial Blood Gases (ABG), BiPAP-related data, chronic respiratory failure symptoms, health-related quality of life, patients satisfaction and utilization of healthcare resources.
This study is looking at whether there is a difference in outcomes using two different types of breathing support in those patients who have chronic respiratory failure (patients who under-breathe). There is little data to demonstrate which mode of ventilation is better in terms of physiological outcomes and outcome data relating to patient symptoms. We hypothesize that one type of breathing support: pressure support ventilation would be more comfortable for patients as it more closely matches a patient's own respiratory pattern and and so leads to improved adherence and consequent improvement in quality of life. Patients with respiratory failure will be randomly assigned to receive either pressure support ventilation or pressure control ventilation for the first 6 weeks and then cross-over to receive the mode not previously used for a further 6 weeks. They will have baseline data recorded and then be followed up after each 6 week block.