Author Archives: Marta Figueiredo PhD

Although both Evrysidi (risdiplam) and Spinraza (nusinersen) work to correct the same issue in spinal muscular atrophy (SMA), they do so through different mechanisms. SMA is caused by mutations in the SMN1 gene, preventing the production of…

[Editor’s Note: This is one in a series of articles about the discovery and development of Evrysdi, the newly approved disease-modifying therapy for spinal muscular atrophy (SMA), as well as the scope of SMA issues and treatments. Here, we spoke with leaders at PTC Therapeutics about the…

[Editor’s Note: This is part of a series of articles into the discovery and development of Evrysdi, SMA’s newly approved disease-modifying therapy and its first oral and at-home one, as well as the scope of SMA issues and treatments. Here, we talk with the chief of the…

[Editor’s Note:  This is part of a series of articles into the discovery and development of Evrysdi, SMA’s newly approved disease-modifying therapy and its first oral and at-home one, as well as the scope of SMA issues and treatments. Here, we talk with scientists about how…

The U.S. Food and Drug Administration (FDA) has approved Evrysdi — formerly known as risdiplam — as the first oral and at-home treatment for adults, children, and infants 2 months of age and older with all types of spinal muscular atrophy (SMA). With this action, Evrysdi — marketed by…

A rare instance of a child with both spinal muscular atrophy (SMA) and Farber disease, associated with two new mutations in the ASAH1 gene, is detailed in a case report. Its team suggested that Farber, a rare disorder caused by ASAH1 mutations, should be considered and tested for…

Combining Spinraza (nusinersen) with the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) is generally well-tolerated and sustains motor improvements in children with spinal muscular atrophy (SMA) type 1, according to a case series study. The data, which included children treated with Zolgensma at older ages than those reported in clinical trials,…

People with type 2 spinal muscular atrophy (SMA) show the greatest loss of motor abilities on the Hammersmith Functional Motor Scale Expanded (HFMSE) between the ages of 5 and 13, and the greatest gains in those age 4 or younger, according to a recent natural history study. The…

Biogen has announced plans to launch a Phase 4 clinical trial evaluating the benefits of Spinraza (nusinersen) in infants and children with spinal muscular atrophy (SMA) who were previously treated with the gene therapy Zolgensma (onasemnogene abeparvovec-xioi). The company expects to enroll the first patients…

A baby with spinal muscular atrophy (SMA) type 0 treated with both Spinraza (nusinersen) and Zolgensma is showing benefits relative to the natural course of this most severe disease form, but also limits to treatment effectiveness, a case report suggests. While the child continues to show motor…