SMA 2.0: NUOVE STRATEGIE PER UNA NUOVA MALATTIA.

The arrival of new therapies has produced a significant change in the natural history of spinal muscular atrophy (SMA). The use of the new molecules: nusinersen, risdiplam and onasemnogen abeparvovec in SMA type 1 has led to a marked improvement in survival and motor skills in these patients. As life expectancy increases, SMA children show new clinical phenotypes, presenting changes not only in the motor aspect, but also in the respiratory area; however, there is still a lack of objective and repeatable tools to assess respiratory function, especially in view of the young age and poor cooperation of SMA 1 children. 1. The primary objective of the study was to investigate the effects of different therapeutic approaches in SMA 1 patients in a real-world setting, assessing the safety and efficacy of new drugs and analysing changes in motor, respiratory and bulbar appearance. Factors influencing the effectiveness of the therapies were also investigated. 2. A secondary objective was to search for new diagnostic tools to study and characterise the respiratory aspect in depth. We propose structured light plethysmography as a new specialist and accurate assessment tool that can describe the respiratory pattern of SMA 1 patients in detail.