Young patients with spinal muscular atrophy (Sma) and their families can count on further treatment prospects thanks to the approval by the Italian Medicines Agency (Aifa) of the extension of the use of onasemnogene abeparvovec (Zolgensma*), first gene therapy for SMA, also for children with Sma 2 up to 13.5 kg and pre-symptomatic people with three copies of the Smn2 gene. The treatment is in fact already reimbursed, from 2021, for use in type 1 SMA. The approval comes at a historical moment in which neonatal screening, fundamental for the timely diagnosis of the disease, is extending to more and more regions Italian.
Spinal muscular atrophy – explains a note – is a rare and serious neuromuscular pathology, as well as the leading cause of genetic infant death, characterized by the progressive loss of motor skills, due to the missing or defective version of a gene necessary to produce an essential protein known as 'survival motor neuron' (Smn) protein. In Italy, approximately 40-50 children are born with spinal muscular atrophy every year. Precisely the lack of Smn1 protein, which causes the death of the nerves that control the muscles (motoneurons), makes daily gestures such as sitting and standing or, in the most serious cases, swallowing and breathing difficult. SMA type 1, whose symptoms develop at the age of 6 months, and SMA type 2, with symptoms appearing between 6 and 18 months of age, are the most serious forms. The severity varies based on the number of copies of the spare gene Smn2. More than 7 out of 10 patients with two copies of Smn2 develop type 1, the most common form, which accounts for 60% of cases. Type 1 is serious: if untreated, it leads to death or the need for permanent ventilation by 2 years of age in more than 90% of cases. Over 80% of patients with three copies of Smn2 develop type 2 (30% of cases). Without treatment, these patients are unable to walk and require a wheelchair, and more than 30% die by age 25. Motor neuron loss cannot be reversed, so it is critical to diagnose SMA and begin treatment, including proactive supportive care, as soon as possible to halt motor neuron loss and disease progression.
“We know that gene therapy increases its effectiveness and, therefore, improves the patient's response, the sooner it is administered – states Anita Pallara, president of the Sma Families Association – For this reason we reiterate the importance of neonatal screening, which must be extended to all regions in order to guarantee the same right to health throughout the national territory. In addition to screening, we also underline the importance of guaranteeing families the necessary support during the treatment process and in the subsequent post-treatment follow-up phases. through management by specialized centers across the entire national territory”.
In support of the reimbursement extension – continues the note – the completion of the phase 3 Spr1nt study was decisive, which demonstrated how small patients with three copies of the Smn2 backup gene, treated pre-symptomatically, have achieved goals age-appropriate motor skills, including the ability to stand and walk. The same study also confirms the importance of neonatal screening for SMA, to identify patients when they are pre-symptomatic, with a significant impact on potential therapeutic outcomes.
“We must take into account the fact that the degeneration of motor neurons begins before birth, intensifies rapidly and that the process cannot be reversed – specifies 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 – The innovative aspect of this treatment is that it intervenes directly on the genetic defect with a single administration; therefore, it is carried out only once in a lifetime, based on the available clinical studies , in young patients, motor development stages that are similar to those of healthy peers, such as head control and the ability to sit without support, without the need to resort to ventilatory support that the history of the disease normally requires”.
Precisely with the advent of gene therapy, the community of SMA patients and their families has seen the natural history of the disease change. As demonstrated by the data on the use of onasemnogene abeparvovec in normal clinical practice in Italy (Rwe, Real World Evidence), confirming that what is reported by international clinical studies translates into effective benefits for patients treated in our country , where around 125 children have already been involved. “The extension of the reimbursement of gene therapy for spinal muscular atrophy type 2 by Aifa is a further significant step for children born with a diagnosis of SMA – concludes Roberta Rondena, Country Value & Access Head, Novartis – An important milestone, achieved thanks to collaboration with institutions, scientific societies and patient associations which, we hope, can be a virtuous model for the future. Novartis' commitment in this therapeutic area will continue to reach more and more patients, helping to reduce the burden. impact of the disease and to guarantee a better quality of life for young patients and their families”.
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