View clinical trials related to Neuromuscular Diseases.
Filter by:The main objective is prospectively study the upper airways function in an adult population of neuromuscular patients. The main measurement will be the evolution of tongue strength recorded each year during annual clinical evaluation on a 5 years period.
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 aim of this study is to improve knowledge of natural history and methods of monitoring the evolution of Glycogen storage disease type III regarding the muscle and to study the prospective approach of large series of patients, and using the same protocol for the follow up of the children and adults.
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.
The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.
We are studying the genetics of human cardiovascular and neuromuscular disease. There are many different genetic regions that have been associated with the development of cardiomyopathy. An equal number of genetic regions have been associated with muscular dystrophy and there is overlap because some of the identical genes, when mutated, produce both cardiomyopathy and muscular dystrophy. We are working to identify genes and gene mutations associated with cardiomyopathy, arrhythmias and muscular dystrophy. We propose to screen these samples for mutations in genes known to be involved in these disorders.