A two million euro cure to save a child with Sma

PADUA – The hundredth child in Italy affected by has been treated in Padua spinal muscular atrophy (Sma) with the new gene therapy Zolgensma. The drug boasts the distinction of being one of the most expensive lifesavers in the world, reaching a value of almost two million euros single administration. The child, followed by the team of the Women’s and Children’s Health Department of the University Hospital of Padua, has a year and a half and now his condition is gradually improving.

To announce the goal is the professor George Perilongo, coordinator of the Functional Department of Rare Diseases. «The Paediatrics of Padua was immediately identified as the only reference center in the Veneto region authorized to order and administer this drug – explains Professor Perilongo -. Zolgensma is the first gene therapy against Sma, approved by AIFA in 2021 and paid for by the National Health System for children suffering from the disease, under 13.5 kilos in weight and who meet certain requirements set by the protocols. This is not the only therapy that has revolutionized the approach to Sma in recent years, in fact excellent prospects also derive from the use of Spinraza which is based on a different mechanism and can also be used in adults. In short, scientific research is constantly evolving and hope must never fade away».

THE OTHER CASES

From 2021 to today, six small patients with Sma have been treated in the Paduan university hospital with Zolgesma (Onasemnogene abeparvovec) produced by Novartis Gene Therapies EU Limited. Spinal muscular atrophy is caused by a genetic defect which weakens a person’s muscles until they are unable to move, swallow, or breathe. «Until two decades ago – specifies the expert – before the appearance of new molecules and the start of trials, the most serious form of the disease often led to severe disability and death before the age of two. Sma can be considered one of the most common rare diseases. Zolgensma, approved for children under the age of two, comes administered once in life in a single dose by intravenous infusion over approximately 60 minutes.
«Simplifying – adds Perilongo – a correct copy of a gene is introduced, carried by an attenuated virus. In a sense, gene therapy addresses the root cause of Sma – a missing gene – and helps synthesize the protein for motor neurons to survive. Patients treated with Zolgensma in general have shown a real improvement, even if it should not be thought that the drug is miraculous and that it manages to cure the disease definitively and completely. Furthermore, let’s not forget that adverse effects must be monitored.

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in Il Gazzettino