Spinal Muscular Atrophy and Cardiac Autonomic Function
Spinal Muscular AtrophyRespiratory dysfunction is the major cause of morbidity and mortality in patients with spinal muscular atrophy (SMA). Air stacking is a clearance airway technique frequently used but its effects on cardiac autonomic function in patients with spinal muscle atrophy is not clear. Objective: To evaluate the acute effect of air stacking and posture on cardiac autonomic function in patients with spinal muscular atrophy types II and III. Methods: Patients with spinal muscle atrophy type II and III will be recruited. Electrocardiogram signals will be recorded for analyses of heart rate variability during air stacking in supine and sitting position.
An Open-label Safety, Tolerability, and Dose-range Finding Study of Nusinersen (ISIS 396443) in...
Spinal Muscular AtrophyThis objectives of this study are to evaluate the safety, tolerability, and pharmacokinetics of a single dose of nusinersen (ISIS 396443) administered intrathecally to participants with Spinal Muscular Atrophy (SMA).
CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type...
Spinal Muscular Atrophy Type IThis is a multi-center trial to test safety and evaluate early treatment intervention with valproic acid and carnitine in moderating SMA symptoms of Type I infants.
A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients...
Muscular AtrophySpinalThe objectives of this trial are: to establish a safety profile for use of Hydroxyurea in children with Types II and III Spinal Muscular Atrophy; to identify reliable outcome measures for HU treatment in Types II and III SMA; and to detect the clinical efficacy of HU treatment in children with Types II and III SMA.
Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy
Spinal Muscular AtrophyThe primary objective of this proposal is to determine whether oral VPA is effective in treating SMA in adult patients.
Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron...
Spinal Muscular AtrophyAmyotrophic Lateral Sclerosis1 moreOBJECTIVES: I. Evaluate the effects of androgen suppression with leuprolide and androgen replacement with testosterone enanthate on muscle strength in men with Kennedy's disease or other motor neuron disease.
A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen...
Spinal Muscular AtrophyThe primary objective is to evaluate the long-term safety and tolerability of nusinersen (ISIS 396443) administered by intrathecal (IT) injection to participants with Spinal Muscular Atrophy (SMA) who previously participated in investigational studies of nusinersen. The secondary objective is to examine the long-term efficacy of nusinersen administered by IT injection to participants with SMA who previously participated in investigational studies of nusinersen.
A Study of CK-2127107 in Patients With Spinal Muscular Atrophy
Spinal Muscular AtrophyThis study will evaluate the pharmacodynamic (PD) effect of CK-2127107 (hereafter referred to as reldesemtiv) versus placebo on measures of skeletal muscle function or fatigability in patients with Type II, III, or IV spinal muscular atrophy (SMA).
Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions
OsteopeniaSpinal Muscular Atrophy4 moreChildren with neuromuscular disabilities and limited ambulation are at significant risk for decreased bone mineral density (BMD) and increased incidence of fracture. This is caused, in part, by low levels of load experienced by the skeleton due to a child's functional limitations. Low BMD has been shown to be predictive of fracture, and in fact, fractures usually occur without significant trauma in children with neuromuscular conditions. The discomfort and distress from fractures in this population are considerable, and the associated costs to the family and healthcare system are substantial. Numerous interventions have been devoted to improving BMD in these children. Stationary assisted standing devices are widely used and represent the standard-of-care. However, evidence supporting this approach is limited due to inadequate study designs with insufficient numbers of patients. This study will use load-sensing platforms in patients with neuromuscular conditions. Successful completion of this pilot study will assist in the development of a future multicenter clinical trial to definitively determine relationships, if any, between passive standing and measures of BMD, fracture incidence, pulmonary function, and health-related quality-of-life measures in children with a variety of neuromuscular disabilities (e.g., spinal muscular atrophy, cerebral palsy, muscular dystrophy, spina bifida, Rett syndrome). Hypothesis: Assisted standing treatment program will gradually increase their duration of standing by up to 75% after the baseline phase.
Effects of Standing on Non-Ambulatory Children With Spinal Muscular Atrophy
Spinal Muscular DystrophyNeuromuscular DisabilityNon-ambulatory children with a neuromuscular disability such as spinal muscular atrophy (SMA) are at significant risk for poor bone health as defined by low bone mineral density (BMD) and increased propensity to fracture. Poor bone health is thought to be related, at least in part, to abnormally low levels of load experienced by the skeleton. A common physical approach for increasing bone density is to stimulate the musculoskeletal system by increasing the amount and duration of weight-bearing in the lower extremities. For non-ambulatory individuals, this takes the form of using an assisted standing device to enable the child to spend time in a standing position with some degree of weight placed on the lower limbs. Some of these physical interventions demonstrate variable improvement in BMD in children with neuromuscular conditions, and some do not. A serious limitation in the previous work in this area is a failure to objectively measure the magnitude and duration of the loading experienced by the lower extremities. Thus, a lack of change in BMD may be due to the extremities experiencing only a fraction of the body weight (due to load-sharing with the assistive device) for an inadequate duration of standing time. In order to investigate the efficacy of standing treatment for increasing BMD, the investigators will develop a simple, portable and inexpensive transducer that will measure the magnitude and time course of the load experienced by the lower extremities of individuals with SMA who use a stationary assisted standing device. The specific goal of this proposed project will be to develop, validate and establish the initial feasibility of such a measurement device.