Today there is the possibility of addressing the genetic cause of spinal muscular atrophy by directly intervening on the function of the missing or non-functioning gene, a solution that can provide significant clinical benefit and look to the future with greater hope. for it is necessary that the disease be recognized promptly as the degeneration of motor neurons, at the base of the disease, begins before birth, intensifies rapidly. Muscle atrophy is a degenerative disease that in severe cases prevents the child from holding his head autonomously, swallowing or making normal physical and motor progress and can also interfere with respiratory functions – explains Eugenio Mercuri, Director of the Operations Unit. Infantile Neuropsychiatry Complex, Gemelli Polyclinic, Rome Agostino Gemelli University Polyclinic Foundation IRCCS – gene therapy for SMA represents a great innovation, but it must be accompanied by widespread neonatal screening programs so that the disease can be diagnosed early and treatment can be started as soon as possible. in fact, it is essential to intervene promptly, anticipating the loss of motor neurons in patients, since it is an irreversible process.
The moment of diagnosis is forever extremely delicate and in this the involvement that the entire family unit will have in the management of the pathology plays a fundamental role starting from the moment of the discovery of the pathology: For this reason today more than ever they have assumed a central role patient communities, associations, a real point of reference for families and accompany them on this path. In order to intervene promptly, a correct and early diagnosis plays a fundamental role and it will be important in the following months to find a way to homogeneously implement neonatal screening programs throughout the national territory underlines Anita Pallara, President FamiglieSMA. Neonatal screening is one of the most important public preventive medicine programs, active in Italy since 1992: to date, only a few regions have included SMA among the pathologies that can be diagnosed in the pre-symptomatic phase by researching the genetic defect. In the coming months, pilot studies will also be launched in Piedmont and Liguria.
After the approval of reimbursement by the Italian Medicines Agency (AIFA) last March, onasemnogene abeparvovec, the gene therapy for SMA, has received the go-ahead for marketing and is now available: it 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 is administered only once in the patient’s life by the intravenous route.
April 29, 2021 (change April 29, 2021 | 14:02)
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