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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…
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…
Increasing the levels of brain-derived neurotrophic factor (BDNF) — a molecule involved in the communication between nerve cells and muscle — specifically in muscle delayed symptom onset and slowed disease progression in a mouse model of spinal and bulbar muscular atrophy (SBMA), a study has found. BDNF’s benefits…
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…
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…
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…
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…
In previous articles, we have discussed different techniques for manual stretching to improve functional mobility and range of motion for Michael, my patient with SMA. We have discussed the importance of maintaining and increasing range of motion in joints such as ankles, knees, hips, elbow, hand, and cervical spine. These…
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…
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