Author Archives: Marisa Wexler MS

The COVID-19 pandemic led to delays in treatment with Spinraza (nusinersen) for many children with spinal muscular atrophy (SMA). However, these delays seem to have a lower impact on children’s functional skills when compared with family support, according to a small study in Italy. The study, “…

Children with spinal muscular atrophy (SMA) who have spine deformities or weak trunk muscles are more likely than others to have substantial limits to functional abilities and life activities, a study in patients ages 6 months to 15 years reported. Strengthening trunk muscles through regular exercise and physical therapy…

Novartis has completed negotiations with the pan-Canadian Pharmaceutical Alliance (pCPA) regarding pricing and availability of Zolgensma (onasemnogene abeparvovec), its approved gene therapy for spinal muscular atrophy (SMA), for pediatric patients. With this negotiation completed, individual public drug plans in Canada will now make final decisions about the coverage…

A pilot newborn screening (NBS) program for spinal muscular atrophy (SMA) that started in Liège province has transitioned into an official, government-run program spanning Southern Belgium. Its architects described their experience, highlighting concepts that may be useful for creating similar programs, as well as problems that arose and how they…

Scholar Rock plans to soon initiate a Phase 3 clinical trial of apitegromab, its investigational muscle-directed treatment for spinal muscular atrophy (SMA), in type 2 and 3 patients who are unable to walk. “We anticipate initiating a Phase 3 trial to evaluate apitegromab in patients with non-ambulatory Type…

After being treated with Evrysdi (risdiplam) for at least a year, pre-symptomatic infants with spinal muscular atrophy (SMA) have retained the ability to swallow, and most have been able to stand and walk within developmentally normal windows. That’s according to new data from the RAINBOWFISH clinical trial presented…

A naturally occurring form of the androgen receptor protein — which scientists have named AR45 because of its size — may be useful for treating spinal and bulbar muscular atrophy (SBMA), a rare form of adult-onset spinal muscular atrophy, a new study suggests.

The first-ever case of someone in Romania with spinal muscular atrophy (SMA) caused by a mutation in the ASAH1 gene was described in a recent report. The study, “Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency,” was published in the …

The U.S. Food and Drug Administration (FDA) has lifted its partial hold on clinical trials of OAV-101 (AVXS-101), an investigational intrathecal gene therapy for the treatment of spinal muscular atrophy (SMA). The agency put a hold on the open-label clinical trial STRONG in 2019, citing concerns seen in…

Biochemical modifications made to antisense oligonucleotides — molecules that are the basis of an existing therapy for spinal muscular atrophy (SMA) — may improve this and similar treatments, new research suggests. More work, which is underway, is needed as the biochemical changes seen to possibly offer an advantage were more…