Author Archives: Marta Figueiredo PhD

One year of Spinraza (nusinersen) treatment safely and significantly improves motor function in children with spinal muscular atrophy (SMA) types 1 and 2, according to a real-life study in French patients. Greater motor benefits were seen among children with more severe disease and those treated earlier in life.

Restoring levels of the SMN protein exclusively in nerve cells through gene therapy only partly eased symptoms and lengthened survival in a mouse model of severe spinal muscular atrophy (SMA), a study from France found. The gene therapy’s best results were observed when SMN levels were normalized systemically,…

Risdiplam continues to sustain high levels of the SMN protein and improve motor function in children and young adults with spinal muscular atrophy (SMA) types 2 and 3, two-year data from the first part of the SUNFISH trial show. It also safely and effectively raises SMN levels in patients previously…

Spinraza (nusinersen) continues to safely and effectively stop disease progression in children with spinal muscular atrophy (SMA) who were treated before 6 weeks old and symptom onset, according to updated data from the NURTURE trial. With up to nearly five years of continuous treatment, all these children…

The frequency with which spinal muscular atrophy (SMA) is found in newborns may be lower than previously thought, according to one-year data from an SMA screening program in the state of New York. Based on expected disease frequency, the program anticipated that 20 to 38 of the more than…

Heart problems associated with spinal muscular atrophy (SMA) may be caused partially by calcium dysregulation in heart muscle cells in the absence of the survival motor neuron (SMN) protein, a study suggests. These findings not only shed light on the underlying mechanisms of heart problems in SMA — which…

Spinraza (nusinersen) improves muscle strength, endurance, and independence in adults with spinal muscular atrophy (SMA), meeting most of their positive expectations, a small, real-world study in Germany has shown. The data also showed that patients reported greater improvements than those observed with objective motor function measures, suggesting that…