News

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…

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…

Low-cost method may quickly spot carriers of SMA-causing mutations

Researchers in China report having developed a way to quickly and more easily screen for people who carry SMN1 gene mutations associated with spinal muscular atrophy (SMA). This method showed high accuracy for correctly identifying both those who are and are not carriers of SMA-causing mutations, compared with…

Long-term Spinraza found safe, effective across SMA spectrum

Long-term treatment with Spinraza (nusinersen) was associated with improved or stable motor function in patients across the spinal muscular atrophy (SMA) disease spectrum, according to an analysis of real-world registry data. “To date, this is the largest prospective study over the longest observational period of [Spinraza] therapy…