News

MDA 2024: Spinraza may benefit some SMA children after Zolgensma

In children with spinal muscular atrophy (SMA) who have a less-than-optimal response to the gene therapy Zolgensma (onasemnogene abeparvovec-xioi), subsequent treatment with Spinraza (nusinersen) can improve motor function and may reduce nerve damage. That’s according to interim data from the Phase 4 RESPOND study (NCT04488133),…

MDA 2024: Zolgensma gene therapy safe in children up to 21 kg

The one-time gene therapy Zolgensma (onasemnogene abeparvovec-xioi) didn’t cause any unexpected safety issues among children with spinal muscular atrophy (SMA) who weighed up to 21 kg (about 46 pounds) in a Phase 3b clinical trial, and most had stable or improved motor function a year after treatment. That’s…

Combining 2 SMA therapies boosts SMN protein production: Study

Combining a low dose of risdiplam, the active ingredient in Evrysdi, with a therapy like Spinraza (nusinersen) boosted SMN protein production beyond what the individual treatments do in cells from spinal muscular atrophy (SMA) patients, a study shows. The low-dose combination demonstrated synergistic benefits while minimizing the…

Early treatment may not resolve swallowing problems in SMA: Study

Children with spinal muscular atrophy (SMA) can still experience swallowing difficulties despite early treatment with disease-modifying therapies, a small study shows. Swallowing was either incomplete, with liquid remaining in the mouth and/or esophagus, and/or unsafe due to aspiration (the inhalation of liquid into the lungs), in all of the…

Toddler dies after months of delay in diagnosing SMA type 1

A young girl whose muscle weakness and respiratory distress in infancy were treated only as such was diagnosed as a 1-year-old with a severe form of spinal muscular atrophy (SMA), scientists in Pakistan report. She died shortly after her SMA type 1 diagnosis, and after starting on supportive…

Previously unknown breathing abnormality seen in SMA type 2

A previously unknown breathing problem — called pseudo-obstructive sleep-disordered breathing — has been discovered among people with spinal muscular atrophy (SMA) type 2, a study reveals. This unusual breathing pattern during sleep is caused by an imbalance between the SMA-related weakness in the chest muscles and the relatively unaffected…