Active clinical trials for "Muscular Atrophy, Spinal"

The purpose of this study is to learn about rates of patient-reported disease progression in patients with motor neuron diseases (amyotrophic lateral sclerosis, progressive muscular atrophy, primary lateral sclerosis, hereditary spastic paraplegia) outside the clinical setting, and the patient-reported clinical characteristics that influence this rate of progression. All patients enrolled in CReATe Connect, a Rare Diseases Clinical Research Network (RDCRN) Contact Registry, will be invited via email to participate in this study.

NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well as determine the best outcome measures for further therapeutics approaches.

Spinal muscular atrophy is a genetically based disease that affects motor neurons in the spinal cord and leads to muscle wasting and weakness. The gene found to be responsible for the underlying disease is called the SMN or survival motor neuron gene. Individuals with SMA are either missing a copy of the gene or have a mutation in the gene. Although the gene has been identified, how it actually causes the motor neurons to die and leads to muscle wasting and weakness is not completely understood. The investigators have found that skin cells from children with SMA tend to be more susceptible to cell death when exposed to cell death inducing agents. In this protocol, The investigators wish to study the mechanisms by which these cells die when exposed to these agents and how this may be related to the gene defect and the disease.

This non-drug, single center, 24-week, longitudinal study in ambulant spinal muscular atrophy (SMA) patients and in age- and gender-matched healthy volunteers will assess the detection of disease progression by magnetic resonance imaging (MRI) and the Muscle Function Measure (MFM) test. Each participant will be evaluated in three testing sessions: at baseline, at Week 12 and at Week 24. Both patients and volunteers will undergo MRI scans. Patients will additionally undergo testing of motor function and have blood samples taken for Survival of the Motor Neuron (SMN) genes, proteins and mRNA analysis.

The goal of this pilot study is to identify a marker or panel of markers in the blood or urine from a wide range of Spinal Muscular Atrophy (SMA) patients that segregates with measures of clinical severity. From this identification of candidate biomarkers, it is hoped that further investigations, both longitudinal natural history and clinical efficacy studies, will verify a biomarker with the sensitivity and specificity that will allow its eventual use as a validated pharmacodynamic marker or surrogate endpoint. In addition, this effort may elucidate biological pathways that may be potential therapeutic targets.

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.

Nusinersen (Spinraza, Biogen Inc, Boston, MA), the first treatment approved by FDA and EMA for all Spinal Muscular Atrophy (SMA) subtypes, is an antisense oligonucleotide that is administered intrathecally through a lumbar puncture. This procedure can be challenging in some adults with intermediate and late onset SMA (types II-IV) frequently presenting scoliosis secondary to neuromuscular weakness and often treated with spinal instrumentation to prevent worsening deformities. In such patients, in order to access the intrathecal space, US guidance and/or assistance have been recently proposed as useful and successful tool. The US guidance and/or assistance have been associated to a high success rate, a reduction of number of attempts and needle passes to obtain a successful anesthesia. A reduced risk of adverse events (AEs), such as post dural puncture headache (PDPH) and low back pain (LBP), and low patient satisfaction often associated with multiple needle punctures was also reported. Aim of this retrospective study was to report the efficacy, evaluated as rate of the successful procedures and subsequent delivery of nusinersen within the subarachnoid space, the number of attempts, the procedure time and the adverse events (AEs) of interlaminar intrathecal nusinersen administration using either ultrasound assistance or the landmark-based technique in a historical cohort of 51 adult SMA patients.

The purpose of this study is to evaluate the impact of the use of a pediatric exoskeleton on the quality of life of children, specifically in the psychological and care dimensions. Other objectives are to evaluate changes at the physical and functional level.

The aim of this project is to establish a network of clinical teams including the major neuromuscular centers in Europe. We plan to work together to find the best common outcome measures for the following multicenter therapeutic trials.

The purpose of this study is to evaluate the quality of supportive and palliative care for SMA type 1 patients.