News

Scholar Rock’s apitegromab led to motor function improvements over a year of treatment in young adults and children with spinal muscular atrophy (SMA) type 2 or 3 who could sit independently and were on stable standard of care, but unable to walk. That’s according to…

Treatment for 10 months with Spinraza (nusinersen) normalized the activity of 38 genes in adults with spinal muscular atrophy (SMA), a genetic study showed. Among the normalized genes were those involved in immune signaling pathways — findings that are “in line with the potential of this therapy to…

Nearly two-thirds of adults in South Korea with spinal muscle atrophy (SMA) type 2 or type 3 were initially misdiagnosed, according to a recent study. In type 2 cases, the primary misdiagnosis was a developmental delay, while muscular dystrophy was the main misdiagnosis in type 3…

Babies born prematurely were diagnosed with spinal muscular atrophy (SMA) through newborn screening programs (NBS) in Germany and, in most cases, started on treatment before disease symptoms emerged, a retrospective study reports. Doctors, however, waited to initiate treatment until many of the 12 newborns had reached full-term age,…

Brain abnormalities visible on MRI scans were seven times more likely in people with spinal muscular atrophy (SMA) than in those without the disease, a small study found. Patients with indicators of more severe disease, including having SMA type 1 and fewer copies of the SMN2 gene, had…

Untreated patients with spinal muscular atrophy (SMA) type 2 showed more changes in their ability to perform upper limb activities over a year than those with SMA type 3, an analysis suggests. Whether patients gained or lost the ability to perform upper limb functions depended on a number of…

The Ministry of Health, Labour, and Welfare (MHLW) in Japan has extended the approval of Evrysdi (risdiplam) for infants genetically diagnosed with spinal muscular atrophy (SMA) who are younger than 2 months and haven’t yet had symptoms. With this extension, the treatment is now available for patients of…

The gene therapy Zolgensma (onasemnogene abeparvovec-xioi), given as a sole treatment, improves motor skills and preserves lung health and feeding abilities in infants with spinal muscular atrophy (SMA) type 1, according to a real-world study. Despite such benefits to patients treated at a mean age of 7.5 months,…

Substantial differences in newborn screening (NBS) practices for spinal muscular atrophy (SMA) across the U.S. could impact referral patterns or the timing of therapeutic interventions, a study shows. While healthcare providers evaluated newborns with positive results within the first week of life, many didn’t initiate therapy until after they…

Surgery to correct scoliosis, a sideways curvature of the spine, slowed lung function decline in people with spinal muscular atrophy (SMA) type 2 and 3 who had yet to receive treatment, a study focusing on secondary outcomes reported. While all participants reported overall satisfaction with posture and physical…