Infants with spinal muscular atrophy (SMA) type 1 receiving the therapeutic dose of Evrysdi (risdiplam) continue to improve and achieve motor milestones, according to two-year data from the first part of the Phase 2/3 FIREFISH clinical trial. Updated data from FIREFISH (NCT02913482) showed that nearly all…
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It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism. “The hardest thing…
Novartis will open a new clinical trial investigating Zolgensma, given via an injection directly into the spinal canal, after the U.S. Food and Drug Administration (FDA) recommended a “pivotal confirmatory study” into the gene therapy’s use in older spinal muscular atrophy (SMA) patients. Findings from this future…
About one year of treatment with Spinraza (nusinersen) gradually and significantly improves motor function in adults with spinal muscular atrophy (SMA) type 3 — especially those unable to walk without assistance, according to a large and real-life study in Italy. Adults with type 2 disease, in turn,…
Evrysdi (risdiplam), Roche’s oral therapy for spinal muscular atrophy (SMA), will be available to select patients in the U.K. before its potential regulatory approval through an Early Access to Medicines Scheme (EAMS). Eligible patients include those with type 1 and 2 disease, ages 2…
Control Bionics has announced the launch of the GridPad Trilogy, an augmentative and alternative communication (AAC) device intended to aid people living with a range of conditions that affect movement and speech, such as spinal muscular atrophy…
To help children with spinal muscular atrophy (SMA) gain mobility and independence, Electric Bike Technologies (EBT) is donating 10 Liberty Trikes — and plans to double that gift next year. The Liberty Trike is a folding and active-mobility tricycle that can be used by children with SMA and…
Two years after acquiring the gene therapy company AveXis, Novartis has renamed it Novartis Gene Therapies to underscore the potential value of developing such treatments for genetic diseases. This decision was based partly on the success of Zolgensma, originally developed by AveXis, as a…
England’s National Institute for Health and Care Excellence (NICE) is expanding its appraisal of Zolgensma, a gene therapy for spinal muscular atrophy (SMA), according to a press release from SMA UK. NICE had previously planned to conduct evaluations of clinical trial and cost-effectiveness data, with…
As it does each September during Newborn Screening Awareness Month, Baby’s First Test is sharing information and stories that highlight efforts throughout the U.S. to bring attention to newborn testing. Baby’s First Test is a program of Expecting Health, an organization focused on pregnancy and newborn health. The…
