A single infusion of Zolgensma (onasemnogene abeparvovec-xioi) continues to lead to meaningful and sustained benefits in children with spinal muscular atrophy (SMA) treated in infancy, according to data from several clinical trials. Zolgensma, formerly known as AVXS-101, is a gene therapy originally developed by AveXis, now…
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The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…
Treatment of adult spinal muscular atrophy (SMA) patients with Spinraza (nusinersen, by Biogen) seems to be beneficial, despite the challenges associated with its administration, a small study suggests. Patients reported either stabilization of motor function or reduction in the severity of their symptoms. However, longer observational studies…
The Japanese Ministry of Health, Labour and Welfare approved Zolgensma (onasemnogene abeparvovec-xioi) for the treatment of spinal muscular atrophy (SMA) patients under the age of two, Novartis announced. The approval includes toddlers and newborns who are pre-symptomatic at diagnosis, meaning those who have not yet shown symptoms.
Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) — launched…
Shift Pharmaceuticals said its investigational lead therapy E1v1.11 has been granted orphan drug designation by the U.S. Food and Drug Administration (FDA) as a potential treatment option for spinal muscular atrophy (SMA). SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene, which leads to…
As newborn screening for spinal muscular atrophy (SMA) becomes more common, ethical dilemmas will arise about the best treatment strategy for individuals with four copies of the SMN2 gene, a new study contends. The study, “Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn…
A specific chemical modification of antisense oligonucleotides (ASOs) — called MOE; used in Spinraza (nusinersen) — was more effective than another commonly used modification — called PMO — in improving survival and motor neuron preservation in a mouse model of severe spinal muscular atrophy (SMA). These findings…
Palliative care for babies with spinal muscular atrophy (SMA) type 1 has improved in recent decades, with greater involvement of dedicated pediatric medical teams, a new French study suggests. As more treatments become available, ethical questions about the appropriate level of care will need to be addressed, researchers…
Surgery to treat scoliosis may permanently limit the ability of children with spinal muscle atrophy (SMA) type 2 and 3 to perform certain movements, with patients in better physical shape before such procedures experiencing a greater loss of motor skills afterward, a study found.
