View clinical trials related to Muscular Atrophy, Spinal.
Filter by:IO-SMA-Registry is a prospective, longitudinal and observational study which objective is to collect prospectively information on longevity, psychomotor development and respiratory function of patients with infantile-onset spinal muscular atrophy.
Phase 3 pivotal US trial studying open-label intravenous administration of onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) Type 1 participants.
The primary objective of this study is to investigate the natural history of spinal muscular atrophy (SMA) types 2 and 3 patients in Taiwan. This study will provide further insights into the clinical course SMA. Several analyses will be conducted regarding overall survival, demographic characteristics, motor function, respiratory and nutritional support, and genotype and phenotype correlation.
The aim of this randomized study is to develop a new motor assessment of space exploration in a 2D environment with upper limbs for children with spinal muscular atrophy 1 and 2 from 3 until 16 years old.
Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA. The dried blood spots of routine newborn screening samples will be used to test if neonates have lost 2 copies of SMN1 gene. If neonates have positive SMA screening test, further confirmation with multiplex ligation-dependent probe amplification (MLPA) test and prospective motor function monitoring including physical and neurological examinations will be proved to make SMA confirmation. For any confirmed SMA patient, genetic counseling and standard of care will be proved.
Herein, the investigators study the safety and efficacy of transplanting purified autologous bone marrow-derived stem cells transplanted via the intrathecal route by interventional radiology and the intravenous route.
Spinal muscular atrophy (SMA) are one of the common physical disabilities in childhood. For SMA, progressive muscle weakness and early fatigue hamper the mobility of the sufferers. Osteopenia is common for this population group due to poor bone growth and muscle disuse. As a result, non-traumatic related fractures and bone pain are common. Recently, whole body vibration therapy (WBVT) has been proven to improve bone health and muscle function in healthy adults and post-menopausal women. Among the limited studies on the WBVT for children with muscular dystrophies, promising results have been shown on gross motor function, balance, and muscle strength and the WBVT appears to be safe for children with SMA. The present pilot study is designed to investigate if WBVT is safe and feasible for individuals with SMA and if WBVT can improve muscle function, functional abilities, postural control and bone mineral density in children with SMA. Convenience samples of 10 individuals with SMA type III will be recruited. The participants will receive the WBVT of 25 Hertz and a peak-to-peak amplitude of 4mm for a session of about 18 minutes, 3 days per week for 4 weeks. Assessment will be performed at the baseline and the completion of the intervention to examine the muscle function, functional abilities, postural control and bone mineral density of the participants. It is anticipated that the outcomes of this pilot study for SMA may show if this intervention is safe, feasible and beneficial for children with SMA type III regarding to muscle function, functional abilities, postural control and bone mineral content and if there may be any related practical issues of this intervention to this population group. The outcomes also provide research evidence to clinicians if this intervention should be recommended to individuals of similar problems.
This is a multi-center, exploratory, non-comparative, and open-label study to investigate the safety, tolerability, PK, and PK/PD relationship of risdiplam in adults, children and infants with Spinal Muscular Atrophy (SMA) previously enrolled in Study BP29420 (Moonfish) with the splicing modifier RO6885247 or previously treated with nusinersen, olesoxime or AVXS-101.
A trial investigating the effects of pyridostigmine (mestinon) versus a placebo in a double-blind cross over trial in patients with hereditary proximal spinal muscular atrophy (SMA) types 2, 3 and 4.
Open-label, multi-center clinical study is to assess the safety, tolerability, pharmacokinetic (PK), pharmacodynamics (PD), and efficacy of Risdiplam (RO7034067) in infants with Type 1 spinal muscular atrophy (SMA). The study consists of two parts, an exploratory dose finding part (Part 1) and a confirmatory part (Part 2) which will investigate Risdiplam (RO7034067) for 24-months at the dose selected in Part 1.