Patricia Inacio, PhD,  science writer—

Spinraza (nusinersen) helps correct a key amino acid deficiency in people with a severe form of spinal muscular atrophy (SMA), a study has found. Researchers found that the treatment restores levels of L-arginine, an amino acid important for brain development that is reduced in the brainstem and spinal…

Disease-modifying therapies (DMTs) may help lower the risk of children’s bone fractures among young patients with spinal muscular atrophy (SMA), a study by U.S. researchers suggests. “Drug therapy led to a decrease in fracture occurrence,” the scientists wrote, noting that “patients on treatment had fewer fractures compared [with] pretreatment.”…

Treatment with Spinraza (nusinersen), which was the first disease-modifying therapy to be approved for spinal muscular atrophy (SMA) back in 2016, does not lead to significant kidney dysfunction in people with SMA types 1 and 2, according to a new study from Turkey. Further, the researchers did not…

Training with a wearable robotic hybrid assistive limb (HAL) device over two years was found to markedly improve the walking abilities of three patients with spinal and bulbar muscular atrophy (SBMA) who were also receiving treatment with leuprorelin, according to a new study by researchers in Japan. No notable…

Newborn screening for spinal muscular atrophy (SMA) is now available to all babies born in Canada. The milestone announcement from Muscular Dystrophy Canada (MDC) means babies will be tested weeks after birth for SMA to allow prompt access to treatment, before symptoms appear and irreversible damage occurs, increasing…

The prevalence of spinal muscular atrophy (SMA) at birth in the U.S. is lower than the historic global SMA birth prevalence estimate, according to data from newborn screening programs from 30 U.S. states. The findings were published as a research letter, “Newborn Screening and Birth Prevalence for Spinal…

Scholar Rock remains on track to report topline results later this year from its ongoing Phase 3 clinical trial of apitegromab in children and young adults with spinal muscular atrophy (SMA) types 2 or 3. Apitegromab is an antibody that targets myostatin, a protein involved in suppressing muscle…

Inhibiting an abnormally hyperactive protein called cyclin-dependent kinase 5 (Cdk5) significantly lessens the dysfunction and death of motor neurons, the cells lost in spinal muscular atrophy (SMA), a new study reports. These findings support Cdk5 as a potential therapeutic target for the progressive disease, researchers say. The study, “…

A drop in the levels of four proteins in the cerebrospinal fluid (CSF) may be a marker of response to treatment with Spinraza (nusinersen) in people with spinal muscular atrophy (SMA), a real-world data study suggests. The predictive value of the four-protein panel — which includes neurofilament light chain,…

The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) safely and effectively treats infants with spinal muscular atrophy (SMA), especially when given within the first two months of life, according to the findings of a real-world, small study in Italy. Zolgensma “is an excellent therapeutic option for SMA patients” the…