Rome, April 29 (beraking latest news Salute) – Just a few years ago a diagnosis of spinal muscular atrophy, especially in its most severe form (Sma1), was a disability sentence or worse, a denied future. Today the approach to this disease has been revolutionized by the availability of three therapies, including a gene that provides doctors and patients with a tool to look to the future with greater hope. But it is precisely in this perspective that neonatal screening becomes fundamental. Clinicians and patients talked about it today during the online press conference ‘Spinal Muscular Atrophy: The Innovation of Gene Therapy and the Challenges of Newborn Screening’, organized with the support of Novartis.
“Muscle atrophy is a degenerative disease that in severe cases prevents the child from holding his head independently, swallowing or making normal physical and motor progress and can also interfere with respiratory functions”, explained Eugenio Mercuri , Director of the Child Neuropsychiatry Complex Operating Unit of the Agostino Gemelli Irccs University Hospital Foundation in Rome. “Gene therapy for SMA represents a great innovation, but it needs to be accompanied by widespread neonatal screening programs so that the disease can be diagnosed early and that treatment can be started as soon as possible. timeliness anticipating the loss of motor neurons in patients, since it is an irreversible process “.
“New clinical data presented at the Muscular Dystrophy Association’s 2021 virtual clinical and scientific conference – reports Novartis in a note – highlighted the importance of identifying and treating SMA as soon as possible. In contrast to the natural history of this devastating disease , children treated pre-symptomatically with onasemnogene abeparvovec in the Phase III Spr1nt study achieved age-appropriate motor milestones, including the ability to sit or stand, and to walk, were able to feed exclusively by mouth and they did not need any ventilatory support. There were also no treatment-related serious adverse events reported during the study. “
“After the approval of reimbursement by the Italian Medicines Agency (Aifa) last March, onasemnogene abeparvovec has received the go-ahead for marketing and is now available: the first gene therapy for muscle atrophy can therefore be used for the treatment of clinically diagnosed type 1 SMA patients and up to 13.5 kg and pre-symptomatic patients (and up to 2 copies of the Smn2 gene). The therapy acts by directly replacing the function of the missing or non-functioning Smn1 gene and it is administered only once in the patient’s life intravenously “, the company specifies.
Novartis also announced plans to launch ‘Smart’, a global phase IIIb clinical trial conducted to evaluate the safety and efficacy of Zolgensma * (onasemnogene abeparvovec) in children with spinal muscular atrophy (SMA) weighing between 8 , 5 kg and 21 kg, following a single administration of an intravenous infusion. The new clinical data will complement emerging evidence from clinical practice and expand the use of this therapy in the European Union and Canada, where regulatory approval includes dosage recommendations for infants and children up to 21 kg in weight.
“The availability of Zolgensma in our country represents an extraordinary novelty that will allow doctors to have a therapeutic solution capable of intervening on the genetic cause of the disease through a therapy that is administered only once in a lifetime”, commented Filippo Giordano, General Manager by Novartis Gene Therapies. “With over 1000 patients treated worldwide so far, it has been possible to see the revolutionary impact of the therapy: the global Smart study, which will be launched precisely in order to evaluate the safety and efficacy of the therapy even for patients weighing up to to 21 kg, will expand the clinical evidence and will be able to provide the SMA community with valuable data on its use also for this group of patients. This is a further significant step that underlines the constant and progressive commitment of Novartis to be alongside patients and of their families “.