Active clinical trials for "Motor Neuron Disease"

Background: - Primary lateral sclerosis (PLS) is a disorder in which nerve cells in the brain that control movement degenerate. The cause of PLS is not known, but some research has suggested that environmental factors that produce oxidative stress trigger PLS in people who carry certain genes. Oxidative stress is caused when the body makes chemicals called "free radicals" faster than its natural systems can break them down. Oxidative stress can be triggered by exposures to chemicals related to the bodily effects of lead, smoking, alcohol consumption, physical activity, and psychological stress. Chemicals produced by the body during oxidative stress can be measured in the blood and urine. Researchers are interested in studying the physical, neurological, and chemical effects of PLS to better understand the effects of oxidative stress on the disorder. Objectives: - To study the relation of oxidative stress to the diagnosis and progression of motor neuron disease. Eligibility: - Individuals 20 years of age or older who have been diagnosed with PLS, and have had symptoms of PLS for at least 5 but not more than 8 years and been previously enrolled in 01-N-0145 Screening: Neurologic Disorders with Muscle Stiffness Design: Participants will have an initial study visit and three follow-up visits. Each visit will require approximately 3 days of testing at the National Institutes of Health Clinical Center. As part of this study, participants will have the following tests and procedures: Neurological examination to test muscle strength, sensation, coordination, and reflexes, as well as clarity of speech Tests of memory, attention, concentration, and thinking Surveys on oxidative stress, including questions on life, mood, jobs held, and habit Electromyography to record the electrical activity of muscles Transcranial magnetic stimulation to measure electrical activity translated from their brain to the muscles Blood, urine, and skin biopsy samples for testing and sample collection After the initial visit, participants will have three more visits, once each in the following 3 years.

People with Amyotrophic Lateral Sclerosis (ALS) will use a P300 based brain computer interface (BCI) keyboard to type in assistive technology devices. The results of this study will be compared with a previous study of a P300 BCI keyboard used by healthy volunteers.

This study will identify clinical signs and symptoms critical for diagnosing swallowing disorders and will characterize swallowing problems in various patient populations, such as patients with Parkinson's disease, stroke, post-polio syndrome, multiple sclerosis and other conditions that cause swallowing abnormalities. Patients with swallowing difficulties who are enrolled in NIH neurology or speech pathology protocols may be eligible for this study. Participants will undergo the following procedures: Oral examination-A neurologist and speech pathologist examine the patient's swallowing function. The patient is interviewed about difficulties with food intake, chewing and swallowing during meals. Ultrasound examination-Ultrasound creates image of areas inside the body using sound waves. With the patient in a sitting position, a 3/4-inch transducer (device for transmitting and receiving sound waves) is placed under the chin to visualize tongue movements during swallowing. Modified barium swallow-While standing or sitting, the patient swallows 1/2 teaspoon of flavored barium (a radioactive substance) six times (a total of 3 teaspoons), while the tongue and pharynx (tube leading from the mouth to the esophagus) are scanned and videotaped. The barium is given in three consistencies-thin, medium and thick (pudding-like). Electromyography-A small plastic strip with wires attached is placed under the patient's chin. The patient then swallows 1/2 ounce of barium three times in a row, and the movement of the chin muscles during swallowing is displayed. Patients may also be asked to swallow 5/8 cup of barium twice; once with the head tilted upward and once with the head untilted. Depending on the test results, patients may be asked to return for follow-up study and monitoring.

This study will test the use of a new handheld device (called the N-Tidal C), that measures a person's tidal breath carbon dioxide, in diagnosing the cause of someone's breathlessness. It will also evaluate whether this device can detect when a person's breathing problem is getting worse.

Amyotrophic lateral sclerosis (ALS) is a disabling and rapidly progressive neurodegenerative disorder. There is no treatment that significantly slows progression. Increasing age is an important risk factor for developing ALS; thus, the societal impact of this devastating disease will become more profound as the population ages. A significant hurdle to finding effective treatment has been an inability to accurately measure brain degeneration in humans. Advanced magnetic resonance imaging (MRI) techniques hold promise in this respect, and may assist in aiding diagnosis and the efficient testing of new drugs. Different MRI features of brain degeneration will be measured in a large sample of patients with ALS. The study will operate within the Canadian ALS Neuroimaging Consortium (CALSNIC). CALSNIC is a clinical research platform comprised of ALS clinics with standardized clinical and neuroimaging protocols.

ALS AT HOME is a single-center study of up to 150 participants being done to determine the extent to which frequent sampling can improve the qualities of outcome measures collected at home by study participants.

Patients with Motor Neurone Disease (MND) admitted to Lane Fox Unit /Royal Brompton Hospital and/or reviewed in Lane Fox Unit /Royal Brompton Hospital clinics and/or outreach review will be approached for participation in the study Physiological assessment and measurement of arterial stiffness will be performed in all patients at baseline and after the use of non invasive ventilation for 6 weeks. MND patients not requiring mechanical ventilation will serve as controls since non invasive ventilation cannot be withheld from MND patients in type II respiratory failure. Data will be analysed to look for differences between groups, relationships in baseline or change from baseline in respiratory physiological measures, inflammatory indices, breathlessness, and arterial stiffness. Age, Height, Weight History and Physical Examination Evaluation of dysponea: mMRC, Borg Scale (Seated-Supine) Amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) Sleep Disordered Breathing in Neuromuscular Disease Questionnaire (SiNQ-5) 24 hour blood pressure monitor Carotid-femoral pulse wave velocity Respiratory Muscle Strength - Maximal Inspiratory Pressure, Maximal Expiratory Pressure, and Sniff Nasal Inspiratory Pressure Spirometry - FEV1 and FVC Arterial Blood Gas CRP and fibrinogen (clinically) Breathe CO exhale

Study aims: The primary aim is to determine whether chewing efficiency, determined by a two-colour mixing ability test, and maximum bite and lip force decrease in ALS patients.

The purpose of this research study is to discover and quantitate the differences in post-translational modifications found in the Cu, Zn superoxide dismutase (SOD1) of patients with amyotrophic lateral sclerosis (ALS) as compared to healthy individuals. SOD1 is a known genetic cause of ALS. With certain mutations, SOD1 gains a toxic function which leads to motor neuron death.

Background: - Some people have a mutation in the C9ORF72 gene that causes amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). The mutation causes a small piece of DNA to repeat itself thousands of times. The C9ORF gene mutation mostly occurs in families. In those families, some persons have ALS and others have FTD. Occasionally the C9ORF gene mutation occurs in persons without a family history. Researchers want to understand how this gene causes different diseases. They will study how symptoms caused by the C9ORF gene develop and change over time. They will measure symptoms that occur in ALS and in FTD. In particular, they will measure strength, ability to move, thinking, and memory. They will also see if other tests are associated with progression of disease. These tests, called biomarkers, may help detect or measure C9ORF72 disease in the future. Objectives: - To understand how symptoms change over time in people with mutations in a gene called C9ORF72, which causes ALS and FTD. Eligibility: - Adults over age 18 who have this genetic mutation Design: Participants will have up to 4 in-person visits and 3 telephone interviews over 3 years. Each in-person visit may take place over several days. They may be either inpatient or outpatient visits. At each visit, participants will undergo a series of brain, language, and behavior tests. These will include: Magnetic resonance imaging (MRI) of the brain. This uses magnets, radio waves, and computers to produce detailed pictures of the brain. Collecting spinal fluid. The clinician will make the participant s back numb and then insert a needle to collect fluid. <TAB>- Blood samples will be taken. <TAB>- Participants will be asked to perform several language and movement tests. <TAB>- Small skin samples will be taken on one visit - Between visits, participants will answer questions about their health over the phone 3 times.