View clinical trials related to Muscular Atrophy, Spinal.
Filter by:Respiratory 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.
This 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).
The purpose of the study is to compare the immune response of two different injection methods (Intramuscular V.S. Subcutaneous) of the 2011-2012 seasonal Influenza (Flu) vaccine among patients with neuromuscular conditions who have significant muscle degeneration. This research study hypothesizes that the subcutaneous route of vaccine administration, as compared to the intramuscular route, may confer at least comparable, or possibly better, immunogenicity. At least 30 individuals followed by the CCHMC Neuromuscular Comprehensive Care Center will be recruited to participate in this study lasting approximately one to two months with two clinic visits and one follow-up telephone call. Immunogenicity will be assessed by comparing hemagglutination inhibition (HI) antibody titers obtained pre- and post-vaccination.
Assess the efficacy and the safety of olesoxime in SMA type 2 or type 3 non ambulant patients aged 3-25 years
The proposed feasibility study is necessary to test if children and young adults will participate in and adhere to a 12-week, home-based, supervised progressive strength training exercise program and to obtain preliminary data that will subsequently allow us to determine the safety and impact of strength training in spinal muscular atrophy. Our pilot study will address 3 aims: (1) Ascertain the feasibility of, and potential barriers to, participation in and adherence to a 12-week home-based, supervised, progressive strength training exercise program in children and young adults aged 5-21 years with SMA types II and III; (2) Determine the safety and tolerability of progressive strength training in a pilot study sample of children and young adults with SMA types II and III; and (3) Determine candidate outcome measures.
This study is being conducted to test whether exercise can be effectively used as an intervention to treat Spinal Muscular Atrophy (SMA). In order to answer this question, the investigators will enroll 14 subjects with SMA between ages 8 and 50 and ask them to complete an 18 month training schedule. At some points subjects will be asked to closely follow a specific training regimen and at other points they may be asked to exercise in the same manner they do normally. The exercises they will be asked to perform include biking on a stationary cycle and lifting hand weights. Subjects will be asked to come in to the clinic seven times over the course of the study to perform tests. These tests include motor function measures, a physical exam, questionnaires, a exercise capacity test which involves riding a stationary bicycle, and test where the subject is asked to walk as far as they can in six minutes. The main goal of the study is to see if the subjects who participate in the exercise protocol have larger increases in the distance they can walk in six minutes than those who do not.
Background: - Spinal muscular atrophy (SMA) is a degenerative and incurable neuromuscular disorder that is caused by mutations in the survival motor neuron gene, SMN1, found on chromosome 5. It is the leading inherited cause of infant mortality. SMA carriers (those who have the genetic mutation but do not have the disease) are often unaware of their status until they are tested. - Researchers have been studying the prevalence of SMA carriers in the general population, but most of the information collected has come from populations within the United States, Europe, and Asia. Very few studies have been performed in Africa. Furthermore, this information does not provide much information regarding carrier frequency based on ethnic background and ancestry. To address this problem, researchers are interested in studying the prevalence of the SMA genetic mutation in the sub-Saharan nation of Mali. Objectives: - To collect blood samples for use in studying genetic data related to spinal muscular atrophy. Eligibility: - Healthy volunteers who are at least 18 years of age. - Volunteers will be of Malian ancestry and nationality. Study Location: -<TAB>Bamako, Mali, West Africa Design: - The study will first collect blood samples from a small group of volunteers to run initial SMA carrier testing and resolve any technical difficulties before continuing with the study. - Participants will complete questionnaires about their personal and family medical history, including questions about illnesses, stillborns, and miscarriages, and then will provide blood samples for genetic research and testing.
The purpose of this study is to determine if the treatment with valproic acid can increase the muscle strength and motor ability of children with spinal muscular atrophy.
The purpose this study is to determine the effects of power mobility on the development and function of young children of young children whose severe physical disabilities limit their exploratory behaviors and may unnecessarily restrict their cognitive, communication, and social-emotional development.
Spinal Muscular Atrophy (SMA) is neurodegenerative disease of anterior horn cells of spinal cord and represents the second more frequent pathology in childhood. According to the age of onset and the maximum motor function the disorder is classified in 4 types. Patients with SMA II and SMA III often use orthoses to achieve postural and dynamic functions. In this retrospective observational study the investigators describe the characteristics of sitting position, standing and walking correlated to type and time of orthoses used.