Active clinical trials for "Motor Neuron Disease"

It is very important monitoring respiratory muscle function in patients with amyotrophic lateral sclerosis (ALS). We have at our disposal Respiratory Functional Tests (forced vital capacity (FVC), maximal mouth-inspiratory force (MIF), maximal mouth-expiratory force (MEF), Cough Peak expiratory flow (cPEF), maximal voluntary ventilation (MVV), arterial blood gases and nocturnal pulsioxymetry) and Thoracic Image Techniques (inspiratory/expiratory Thorax x-ray and x-ray scope). But all this explorations present some technique limitations. They are two new methods to explore diaphragmatic function: SNIF test and Diaphragm magnetic resonance imaging (dMRI). SNIF test is simple and easy to be done and it can avoid some problems that have the other respiratory functional test in this kind of patients. dMRI seems to correlate with respiratory functional test and it can be useful monitoring diaphragmatic mobility. The objective of our study is to compare and to correlate SNIF test and dMRI with x-ray techniques and respiratory functional tests that measure diaphragmatic force and function. First of all we will study 10 healthy people with a forced spirometry, MIF, MEF and dMRI, trying to obtain diaphragmatic mobility reference values with dMRI. Lately, we will study patients with ALS. In the first place, we will perform a transversal study with 30 patients. We will do a forced spirometry, MIF, MEF, MVV, cPEF, SNIF, arterial blood gases and nocturnal pulsioxymetry, forced Inspiratory and expiratory Thorax x-ray, diaphragmatic x-ray scope and dMRI. Secondly, we will perform a prospective study, where we will analyze these variables evolution at 3 and 6 months. We hope we can apply the two new techniques in the future because we think they are simpler, more accurate and more objective to evaluate diaphragmatic mobility.

The purpose of a CSF repository is to collect samples of spinal fluid from controls and patients with neurologic disorders including but not exclusively ALS, Dementia, CRPS, neuropathies, and other neuromuscular diseases. This CSF repository will allow the use of CSF in biochemical studies of various neurologic diseases. It would also provide a supply of the necessary normal and disease control patients. CSF would be obtained from patients who are undergoing spinal taps for other reasons including diagnosis, treatment, or participation in clinical trials. We are proposing to collect an additional < 3 ml of CSF from a lumbar puncture that is already being performed for diagnostic or therapeutic reasons, in order to store it in our laboratory for use in future research studies. No lumbar punctures will be initiated specifically for this protocol.

Creation of a large repository of induced pluripotent stem cells (iPSC), bio-fluid samples (blood and spinal fluid (optional)), and cell lines for ALS gene identification. This will be combined carefully with collected measures of the pattern of the symptoms people with ALS have and how these change over time. People with other motor neuron diseases and healthy controls will be included as comparisons

The purpose of this protocol is to test a new Electrical Impedance Myography (EIM) device and study its reliability and ability to differentiate ALS patients from healthy controls.

The purpose of this study is to look for abnormal genes and gene expression profiles that help determine why a person develops amyotrophic lateral sclerosis (ALS) and related motor neuron diseases (MND) and why their symptoms present and progress with a particular pattern.

This study is utilizing ultrasound measurement to measure neuromuscular disease status in adult patients. The hypothesis is the by quantifying ultrasound data, it is possible that ultrasound can be utilized as a tool to determine if a disease is responding to therapy or progressing.

The purpose of this study is to collect biofluid samples for the banking and usage in ALS research. Through comparison of these samples, the researchers hope to learn more about the underlying cause of ALS, as well as find unique biological markers, which could be used to develop new therapies.

The purpose is to collect data for ALS research. The data will be used to learn more about the origin of ALS and to improve quality of care for people with ALS. The information you provide in the ALS registry will be used to evaluate variations in patient care, adherence to standards of care and also to help foster ALS research.

This study will test whether primary lateral sclerosis (PLS) and amyotrophic lateral sclerosis (ALS) affect parts of the brain responsible for thinking, planning, memory and emotion. Healthy volunteers 18 years of age and older and patients with PLS and ALS may be eligible for this study. Participants undergo the following procedures: Rating motor function: Subjects are asked to contract certain muscles in the face, arms and legs, to tap their finger on a keyboard rapidly, to walk 20 feet, and to read a paragraph out loud. Electroencephalography (EEG): The electrical activity of the brain (brain waves) is recorded while subjects tap their finger very slowly. For this test, electrodes are placed on the scalp using a cap or an adhesive substance. A conductive gel is used to fill the space between the electrodes and the scalp to ensure good contact. Surface electromyography (EMG): The electrical activity of the muscles is measured. Electrodes filled with a conductive gel are taped to the skin over the muscle tested. Neuropsychological testing: Testing may include questionnaires, pen-and-paper or computerized tests, and motor tasks. Magnetic resonance imaging (MRI): MRI uses a strong magnetic field and radio waves to produce images of the brain. The subject lies on a table that slides into the scanner. Scanning time varies from 20 minutes to 3 hours, with most scans lasting 45-90 minutes.

Transcranial Magnetic Stimulation (TMS) is a non-invasive technique to gather information about brain function. It is very useful when studying the areas of the brain related to motor activity (motor cortex, corticospinal tract, spinal cord and nerve roots). The procedure is conducted by transmitting a magnetic signal into the brain to stimulate an area of the body. Electrodes (small pieces of metal taped to areas of the body) are used in order to measure electrical activity. A magnetic signal is sent from a metal instrument held close to the patient's head, to an area of the brain responsible for motor activity of a certain area of the body. The electrodes pick up and record the electrical activity in the muscles. This study will employ the use of TMS to diagnose neurological disorders that affect the motor cortex or the corticospinal tract. Normal subjects are sometimes studied to investigate normal activity of the nervous system and to train doctors in clinical neurophysiology and electrodiagnostic medicine at the National Institutes of Health (NIH).