Author Archives: Andrea Lobo

Treatment with Spinraza (nusinersen) led to sustained improvements in motor function in adults with spinal muscular atrophy (SMA), and showed a manageable safety profile, according to a nationwide study in South Korea. Among 19 adults, researchers…

In children with spinal muscular atrophy (SMA) type 1, the most severe form of the genetic disease, treatment with Spinraza (nusinersen) restored levels of taurine — an amino acid that plays a…

Low levels of SMN protein in muscle stem cells (MuSC) — specialized cells that help sustain muscle growth and regeneration — may contribute to the loss of motor neurons, the nerve cells that control movement and…

The blood creatinine-to-cystatin-c ratio (CCR), an indicator of muscle mass and strength, may be a biomarker of treatment response in children with spinal muscular atrophy (SMA), a study in China shows. Increases in the ratio were significantly…

The strength of nerve signals to muscles may serve as a marker of disease severity, and as a means to track responses to Spinraza (nusinersen) treatment, in children with spinal muscular atrophy (SMA), the…

The case of a 51-year-old man ultimately diagnosed with spinal muscular atrophy (SMA) type 4 is believed to mark the first time this form of the rare genetic disease has had as its main…

A small molecule known as 10H-phenothiazine (PTZ) reduced the loss of motor neurons, the nerve cells lost in spinal muscular atrophy (SMA), in animal models of the disease. The treatment also rescued SMA-related changes in the…

Mifepristone, a glucocorticoid blocker, increased survival and muscle size in a mouse model of spinal muscular atrophy (SMA), according to a recent study. Combining mifepristone with a gene therapy construct similar to the one used in…

Treatment with Zolgensma (onasemnogene abeparvovec-xioi) improved motor function in children with spinal muscular atrophy (SMA) who needed tracheostomy, without posing new safety risks, a real-world study showed. Tracheostomy is a surgical procedure that creates an opening in…

A high-dose regimen of nusinersen — the active ingredient in Spinraza — has been recommended for approval to treat spinal muscular atrophy (SMA) by the Committee for Medicinal Products for Human Use (CHMP), a branch of…