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, or…
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 treated…
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 were…
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 225,000…
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 may…
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 patient-reported…
Lung ultrasound is a safe and reliable bedside tool to detect atelectasis (partial lung collapse) early in children with neuromuscular diseases, including spinal muscular atrophy (SMA), a study suggests. This radiation-free method could be used to monitor lung health and identify partial lung collapse in a patient group already highly…
Roche’s experimental oral treatment risdiplam can safely and effectively halt disease progression in infants with type 1 spinal muscular atrophy (SMA) under 7 months of age, according to top-line data from Part 2 of the FIREFISH trial. After one year of treatment, most of these 41 babies…
Blood levels of biomarkers of muscle mass and damage — rather than nerve cell damage — are significantly altered in people with spinal and bulbar muscular atrophy (SBMA) and in a mouse model of the disease, a study has found. Data also highlighted that the levels of creatinine,…
The systemic nature and high specificity of risdiplam — an oral treatment under review in the U.S. to possibly treat all types of spinal muscular atrophy (SMA) — are key to its effectiveness and favorable safety profile. In an interview with SMA News Today, Paulo Fontoura, MD,…
