“Every year in Italy between 20 and 30 children are born with SMA, spinal muscular atrophy. 65% have the most severe form, form 1. These are children who, before the advent of gene therapies, died within the year of age. The rest are children with form 2 and 3, therefore with the ability to sit independently, but not to walk independently”. The new treatment “is a real Copernican revolution”, a sort of “Sma 3.0, because it allows us to treat children who”, without this therapy, “would not have walked. If I can treat them very early, when there are still signs of disease have not arrived, so with neonatal screening, I allow them a normal life.” Thus Marika Pane, clinical director of the Nemo pediatric center in Rome and associate professor of child neuropsychiatry at the Catholic University of the Sacred Heart of Rome, comments on the extension of the gene therapy onasemnogene abeparvovec (Zolgensma*) also to type 2 SMA, in a meeting with the press organized today in Rome by Novartis.
“In the studies we have carried out – underlines Pane – after 7 years, these children maintain the motor development stages of their peers. It is a gene therapy that acts as a 'band-aid' on the diseased gene, i.e. it causes the Smn protein to be produced, that is missing. We are thus able to block the arrival of the disease and its evolution. but also to children with three copies of the gene, a condition that correlates to the severity of the disease. Children with form 1 have two copies of the Smn2 gene in 75% of cases, children with three copies of the Smn2 gene have it in 70-75%. form 2. Treating children with three copies” means “treating children who would have developed form 2 of the disease, in Italy, we will treat 5-6 children no more , but we hope that we can go further, because both the American agency (Fda) and the European one (EMA) have approved the use up to 21 kg. We are waiting for the results of clinical trials that we are carrying out to demonstrate the effectiveness, but above all the safety of the drug in heavier children.”
Currently “in Italy, 125 children with form 1 have been treated in 16 centres. I believe it is essential, for therapies of this kind, but for all gene therapies, that the centers have specific characteristics because – concludes the expert – they are important that must be strictly monitored”.
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