• It's also known as Kugelberg-Welander disease and resembles muscular dystrophy . (childrenshospital.org)
  • We will build on the work done by Trophos and the French Muscular Dystrophy Association to advance the development of olesoxime and to bring it to people who live with this devastating condition as quickly as possible. (roche.com)
  • Zolgensma's approval, and that of Spinraza, is the beginning of a new paradigm for treating SMA and for the fight against muscular dystrophy in general. (statnews.com)
  • Many patients with spinal muscular atrophy (SMA) who might benefit from intrathecal antisense oligonucleotide (nusinersen) therapy have scoliosis or spinal fusion that precludes safe drug delivery. (bioportfolio.com)
  • Spinal curvature (scoliosis) is often a problem requiring bracing and surgery. (mda.org.au)
  • Unlike 50 years ago, when intermediate SMA was considered a life-limiting condition, developments in medical and lay knowledge about treating scoliosis (spinal curvature), chest clearance to remove obstructions from the lungs during a chest infection and physiotherapy have meant that individuals are often (although not always) able to live full and satisfying lives. (bionews.org.uk)
  • SILVER SPRING, Md. , May 24, 2019 /PRNewswire/ -- The U.S. Food and Drug Administration today approved Zolgensma (onasemnogene abeparvovec-xioi), the first gene therapy approved to treat children less than two years of age with spinal muscular atrophy (SMA), the most severe form of SMA and a leading genetic cause of infant mortality. (prnewswire.com)
  • SMA type 1 is a severe form that may be apparent at birth or the first few months of life. (nih.gov)
  • SMA type I, the most severe form (Werdnig-Hoffmann disease) can be detected in utero or during the first months of life. (telegra.ph)
  • Firstly there are the disorders which involve a loss of cells in defined subsets of the brain, such as Parkinson's disease (PD), Alzheimer's disease (AD), and Multiple Sclerosis (MS), and Spinal Muscular Atrophy (SMA). (frontiersin.org)
  • Kennedy's disease is one type of X-linked spinal muscular atrophy. (cedars-sinai.edu)
  • This acquisition highlights Roche's commitment to developing medicines for spinal muscular atrophy, a serious disease with no effective treatment," said Sandra Horning, M.D., Chief Medical Officer and Head of Global Product Development at Roche. (roche.com)
  • This delays diagnosis, particularly as milder forms of the disease involve only mild to moderate intellectual disability, which progresses gradually during childhood or adolescence. (wikipedia.org)
  • The disease may progress to patient's death in a period as short as 9 months or may have a slow evolution or may show plateaus. (wikipedia.org)
  • Brody's article, as Adams points out, was unfortunately timed - October was Down's Syndrome Awareness Month in the USA. (bionews.org.uk)
  • Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy. (bioportfolio.com)
  • Nusinersen (brand name Spinraza) is a medication injected into the spinal fluid that increases the body's ability to produce a protein called survival motor neuron (SMN). (childrenshospital.org)
  • Amanda Chaffin massages son Kayden's hand at home in Noble, Okla. Kayden was turned down by their state's Medicaid program for the drug Spinraza, the first approved treatment for spinal muscular atrophy, because he uses a ventilator. (californiahealthline.org)
  • In terms of quality of life, one IV infusion of Zolgensma is definitely more palatable than multiple spinal infusions of Spinraza each year. (statnews.com)
  • SMA is unusual in its high variability - indeed, it has been described as the most variable neuromuscular condition presenting in childhood (2). (bionews.org.uk)
  • Clinical examination and laboratory tests to assess liver function should be completed prior to treatment with Zolgensma, and patients' liver function should be monitored for at least three months after Zolgensma administration. (prnewswire.com)
  • Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative? (iospress.com)
  • The possible benefits of exercise in Spinal Muscular Atrophy (SMA) have not been explored in a controlled clinical trial format. (iospress.com)
  • Clinical trials for this technology are commencing in the UK this month (as reported in BioNews 729 ). (bionews.org.uk)
  • The downside of antisense treatments is that repeat doses are required at least every few months, and often for life. (newscientist.com)
  • Life span is approximately 2-6 months. (nih.gov)
  • A s someone who has lived with spinal muscular atrophy for all 30 years of my life, I was perplexed and disappointed that the recent approval of Novartis' gene therapy Zolgensma was immediately overshadowed by outrage over the drug's price: $2.125 million. (statnews.com)
  • Online Mendelian Inheritance in Man (OMIM) 211500 "progressive bulbar palsy of childhood" at Dorland's Medical Dictionary Dipti S, Childs AM, Livingston JH, et al. (wikipedia.org)