Active clinical trials for "Neuromuscular Diseases"

Children with neuromuscular diseases (NMDs) and weak chest muscles suffer frequent chest infections, hospital admissions and reduced life expectancy. Physiotherapy is widely used but there is limited research data to support choice of therapy. The investigators will study the clinical value of the three most commonly used chest physiotherapy devices in children with NMD's by measuring lung function tests before and after each of the three treatments. This is a pilot study. The best device will be selected for a long term study of early physiotherapy intervention in children with NMDs. The treatments that have been developed to break the cycle of decreasing lung volume and poor secretion clearance, in children with NMDs, are all based on the same logical but unproved theory of treatment: The loss of lung volume is reversed by applying positive pressure to the lungs via a face mask - literally reinflating the lungs with pressure. The three devices the investigators will test all provide positive pressure assistance during the inspiratory phase. The temporarily increased lung volume then allows higher expiratory flow rates which helps to clear secretions. The expiratory phase is assisted by manual chest compression or, in one device, helped by application of negative pressure during exhalation. All three devices that the investigators wish to compare follow this two-step approach. The hypotheses behind our study are: Treatments combining positive pressure inhalation with assisted coughing during exhalation, will produce measurable improvements in lung volume and expiratory cough flow rates when tested in children with NMDs. One of the three devices tested will be superior to the others. This will provide research-based justification for a long term study of the value of early intervention in children with NMDs.

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.

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.

This clinical trial aims to test a new physio-therapeutic approach tailored to type 2 and 3 Spinal Muscular Atrophy patients, based on physical training in swimming-pool. This specific exercise should promote motor skills of trained patients, as we have observed in different mouse models. Patient's motor skills will be assessed using different scales including MFM and Hammersmith. This clinical trial attempts to develop a new non-invasive motor scale with sophisticated instruments. This scale will be useful in future clinical trials on SMA, given the lack of sensitivity of currently available scales. In addition, the study attempts to validate a questionnaire on post-exercise physical well-being.

Objective: To prove that initiation of chronic ventilatory support at home, in patients with chronic hypercapnic respiratory failure due to neuromuscular disease (NMD) or thoracic cage problem is not inferior compared to initiation in a hospital based setting. In addition we believe that the start at home is cheaper compared to an in-hospital start. Hypothesis: Initiation of chronic ventilatory support at home is effective, safe and cost effective compared to a hospital-based initiation. Study design: A nationwide non-inferiority multi-center randomized parallel active control study. Study population: Patients with chronic respiratory insufficiency due to a neuromuscular disease (NMD) or thoracic cage problem who are referred for chronic ventilator support. Intervention: The start of HMV at home Standard intervention to be compared to: The start of HMV is normally in a clinical setting as recommended in the national guideline. Outcome measures: Primary: PaCO2. Secondary: Health related quality of life; lung function; nocturnal transcutaneous carbon dioxide assessment and saturation, and costs Sample size calculation/data analysis: This is a non-inferiority trial based on PaCO2 as primary outcome. A difference in favor of the hospital care group of smaller than 0.5 kPa will be labeled as non-inferior. To retain 72 evaluable patients, and allow for drop-outs, we will include 96 patients in total. Cost-effectiveness analysis: A cost analysis will be conducted alongside the clinical trial. Costs of the initiation of HMV at home and in the hospital will be estimated form a societal perspective over a time horizon of 6 months. Time schedule: After an initial phase of 6 months recruitment will start and will take 24 months. Thirty-six months after the start of the study the last assessments will be done and analysis and writing of the papers will start. After 42 months the study will end.

The purpose of this pilot study is to evaluate the efficacy of Retrovir (AZT) in the treatment of AIDS-related dementia and various neuromuscular complications. HIV is both a lymphotropic and neurotropic virus which can affect both the central and peripheral nervous systems (CNS, PNS). There is evidence that the CNS and PNS may harbor the virus in a latent state, with the potential for continuous reinfection of other body systems. Therefore, effective therapeutic efforts against HIV infection should provide effective antiviral activity within the nervous system.

This project seeks to investigate the effects of a single acute intermittent hypoxia (AIH) session on respiratory and non-respiratory motor function and EMG (electromyography) activity on patients with ALS (amyotrophic lateral sclerosis) and healthy controls.

The purpose of this current prospective study is to assess the effects of a Therapeutic Riding exercise program conducted in patients suffering from neuromuscular disease. The exercise intervention aims at improving gross motor function, gross motor performance, balance, spasticity, posture and quality of life. Patients were randomized according to age, sex, mental ability and gross motor function. Furthermore, patients will be subdivided into categories of central nervous system (brain/ spinal cord) and peripheral (peripheral nerve or muscle) diseases. The exercise program duration will be 12 weeks, once a week with 30-40 minutes sessions. Six measurements will be conducted: the Gross Motor Function Measure, the Gross Motor Performance Measure, the Quality of life Questionnaire for Children, the Pediatric Balance Scale, the dynamic plate in combination with x-ray for posture control, the Modified Ashworth Scale for spasticity and the Wisc 3 for mental ability. The results will be collected and evaluated using the statistical programme SPSS.

The purpose of this study is to determine the effectiveness of adding mechanical traction to standard physical therapy treatments for patients with neck and arm pain.

Obesity with insulin resistance in the paediatric population provides an increasing challenge. Children with neurological or neuromuscular diseases are even more prone to obesity: their locomotor impairment leads to an increasingly sedentary lifestyle, a decrease in physical fitness and an increase in body fat (1-3). Obesity, in turn, can be associated with a decrease in physical fitness and a further increase in body fat. In this study we want to evaluate the effect of an insulin-sensitizer, metformin, in a group of overweight/obese patients with neurological or neuromuscular diseases. Metformin is a well-established insulin sensitizer.