Treatment of spinal muscular atrophy.

PURPOSE OF REVIEW: The aim of the review was to provide an overview of safety and efficacy of the available treatments including information from both clinical trials and real-world data. Additional information form ongoing studies using other approaches than increasing SMN protein are also reported.

RECENT FINDINGS: In the last 3 years, there have been over 24 studies reporting safety and the impact of the available drugs on different aspects of function, including respiratory and bulbar function. These findings, obtained in a real-world setting, are extremely important to define the spectrum of responses in individuals with different age, weight, SMN2 copies, and other variables and will be of help to the families and the clinicians to set up the right expectations at the time of starting a new treatment.

SUMMARY: The large number of studies that became available in the last few years support and expand the information on safety and efficacy provided by the clinical trials.