SMA, the importance of neonatal screening and new medicines to combat the disease

2024-12-16 16:13:00

Spinal muscular atrophy (Sma) is a neuromuscular disease that affects approximately one in ten thousand newborns. Before 2017, when new drugs and the possibility of carrying out neonatal screening brought the probability of survival to over 90%, it was the first cause of death in childhood in form one, the most serious one. “Since the advent of drugs there has been a true Copernican revolution because children with form one no longer die. Furthermore, the arrival of newborn screening has definitively subverted this situation”, declares 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 in Rome. There are many trials of new drugs or methods of administration of existing ones. Such as administration by marrow instead of intravenously. “In this new phase of the disease after the advent of new medicines we see children and young people growing differently, we see new clinical pictures, but there remain some points that can be improved”, declares Eugenio Mercuri, director of the Unit child neuropsychiatry unit at the Agostino Gemelli Polyclinic – Catholic University of the Sacred Heart of Rome.