A new high-dose regimen of Spinraza (nusinersen) was recently approved in the U.S. as a treatment for spinal muscular atrophy (SMA), with clinical trial data showing a safety profile broadly consistent with the original 12 mg regimen, first approved a decade ago, and suggesting the potential for greater…
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Spinal muscular atrophy (SMA) is more common in wealthier countries across the globe, likely reflecting increased access to diagnostic tools, newborn screening, and modern treatments. That higher prevalence — the total proportion of a population living with a specific condition at a given time — would normally suggest a…
A European Medicines Agency (EMA) panel recommended that the one-time gene therapy Itvisma (onasemnogene abeparvovec-brve) be approved for patients with spinal muscular atrophy (SMA) ages 2 and older. The Committee for Medicinal Products for Human Use (CHMP) opinion will be reviewed by the European Commission, which has final…
Newborn screening (NBS) for spinal muscular atrophy (SMA) is widely supported among families whose babies were screened, SMA families and adults living with the disease, healthcare professionals, and the public, according to a large U.K. survey. The potential for better outcomes for children with SMA was the main reason…
Targeting a stress-activated signaling pathway may offer a new way to treat spinal muscular atrophy (SMA), either on its own or in combination with existing therapies. Researchers found that blocking the c-Jun N-terminal kinase (JNK) pathway with medications significantly reduced disease severity and extended survival in a mouse model…
The antipsychotic medication haloperidol may help treat spinal muscular atrophy (SMA) by increasing SMN protein levels and enhancing protective effects in nerve cells, a study found. Haloperidol boosted nerve cell survival, reduced neuroinflammation, and improved motor function in mice and in patient-derived cells, supporting its potential as a complementary…
A review study found that the neuromuscular junction (NMJ), the site where nerves connect to the muscles they control, fails to mature normally soon after birth in people with spinal muscular atrophy (SMA), leaving it structurally underdeveloped and functionally vulnerable before the loss of nerve cells that facilitate movement.
Treatment with Evrysdi (risdiplam) improved motor function and quality of life in children and adults with spinal muscular atrophy (SMA), a real-world study in Hong Kong shows. The findings, from 34 patients followed for up to three years, showed clinically meaningful gains in motor and upper-limb function, particularly in…
Far-field potentials (FFPs), electrical signals recorded with surface electrodes after nerve stimulation, may help track disease progression in people with spinal muscular atrophy (SMA), a study suggests. The strength of these signals, or FFP amplitude, was significantly lower in people with SMA than in healthy participants, but not significantly different…
Sleep issues, common in people with spinal muscular atrophy (SMA), may be driven not only by nighttime breathing problems linked to weak respiratory muscles but also by changes in how the brain regulates sleep, a review of studies suggests. “Sleep disturbances in SMA are multifactorial, reflecting both respiratory muscle…
