News

Adults with spinal muscular atrophy (SMA) who began being seen at specialty centers after the approval of Spinraza (nusinersen) may have more severe symptoms than adults who have been followed regularly at such centers, a new study suggests. The study, “Sometimes they come back: new…

A new campaign is seeking to raise awareness of key motor development milestones for infants that, if missed, could mean spinal muscular atrophy (SMA) or other neuromuscular conditions. It’s been launched by Novartis Gene Therapies in collaboration with a diverse group of experts in the United Kingdom.

Balance is typically a part of everyone’s treatment plan during physical therapy. Whether you have back pain or ankle pain, improving your balance carries over to an increase in functional mobility that will in turn improve your functional strength and increase your safety, typically assisting to improve the ailment you…

Gene therapy that increased the production of a protein called DOK7 in a spinal muscular atrophy (SMA) mouse model was found to improve the neuromuscular junction structure, reduce muscle fiber loss, improve grip strength, and extend survival.  These study findings suggest that…

Adults with spinal muscular atrophy (SMA) type 3 have significantly lower levels of several molecules that help regulate actin, one of the major components of the cell’s cytoskeleton, according to a study. These findings, from blood and connective tissue cells, add to information from a previous study…

Treatment with the molecule 4-aminopyridine (4-AP) failed to improve the motor function, endurance, and muscle strength of spinal muscular atrophy (SMA) type 3 patients who are able to walk, according to results from a small Phase 2/3 clinical trial.  Findings from the trial…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest…

The EONIS system, a screening assay capable of simultaneously testing newborns for three genetic conditions, including spinal muscular atrophy (SMA), has received a CE marking from the European Commission for an in vitro device. The approval will allow its developer, PerkinElmer, to make the EONIS…

Treatment with the molecule 4-aminopyridine (4-AP) failed to improve the motor function, endurance, and muscle strength of spinal muscular atrophy (SMA) type 3 patients who are able to walk, according to results from a small Phase 2/3 clinical trial.  Findings from the…

Infants with spinal muscular atrophy (SMA)  type 1 who received a single infusion of Zolgensma continue to achieve developmental milestones and show improvements in motor function, according to interim data from the Phase 3 STR1VE-EU trial.  Importantly, these improvements were also seen in infants with more severe forms…