Eduardo Tizzano

The journal Nature Medicine has published the results of the phase III STEER clinical trial for the treatment of spinal muscular atrophy in children aged between two and 18 years. A single dose of gene therapy administered directly into the cerebrospinal fluid showed an improvement in motor function in the children who received it in the clinical trial (75 compared to 51 with placebo). The drug in question is onasemnogene abeparvovec. On 24 November, the US Food and Drug Administration approved this treatment under the trade name Itvisma, from Novartis, based on data from this trial, making it the first treatment available for children over two years of age.

Between 2018 and 2020, a pilot programme conducted neonatal genetic screening of children born in Australia for spinal muscular atrophy, allowing treatment to begin early. A study just published in The Lancet Child & Adolescent Health looks at their condition at two years of age and concludes that they had better movement ability, including the ability to walk, compared to children diagnosed once they develop symptoms. According to the authors, the findings justify further implementation of neonatal screening for the disease.