Fertility issues and low sperm counts are common in men with spinal muscular atrophy (SMA), particularly in those with more severe disease, according to a study from France. Almost two-thirds (65.9%) of SMA patients had fertility disorders. These conditions were particularly common in SMA type 2 patients. “To…
A combination of a ready-to-use SMN protein and an experimental treatment targeting the SMN2 gene, which works in a similar way to Spinraza (nusinersen), eased abnormalities in motor neurons derived from a spinal muscle atrophy (SMA) patient, researchers report. The addition of the protein, raising SMN protein levels (expression), in…
Treatment with the approved gene therapy Zolgensma was found to ease breathing difficulties in children with spinal muscle atrophy (SMA), reducing hospitalizations due to respiratory issues by than 25%, according to a real-world study in Israel. Daily ventilation time — the period when some children used mechanical devices to…
Gene therapy that selectively delivers the SMN1 gene to the liver reduced alterations related to spinal muscular atrophy (SMA) in a mouse model, restoring muscle size and correcting pancreatic issues. Mice that received liver-specific SMN1 also lived longer, performed better on motor tasks, and had fewer liver problems than untreated…
Some 70% of children with spinal muscle atrophy (SMA) type 1 who underwent treatment with Spinraza alone or with Spinraza and then Zolgensma reached some motor milestones over 18 months, with greater improvements in those who received Spinraza early followed by Zolgensma, according to a small study. Ninety…
The use of advanced genetic testing techniques helped clinicians in China to identify novel mutations in the SMN1 gene in two unrelated children — and thus correctly diagnose them with spinal muscular atrophy (SMA), according…
Infants with spinal muscular atrophy (SMA) who are presymptomatic and given the gene therapy Zolgensma in the first six weeks of life have better motor, respiratory, and nutritional outcomes, according to a recent study from Europe. However, researchers found functional motor scores still improved significantly, albeit less dramatically,…
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