Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy Report Summary

 

Major Points:

1. Efficacy: The study found significant improvements in CHOP INTEND and motor-milestone scores in SMA patients at both short- and long-term follow-ups. CHOP INTEND is a measure of motor skills, and these improvements indicate that the gene therapy is effective in improving the condition of SMA patients.
2. Safety: Common adverse events reported were pyrexia (fever), vomiting, thrombocytopenia (low platelet count), and elevated aminotransferases (liver enzymes). Among these, thrombocytopenia and elevated aminotransferases were more common in SMA patients aged older than 8 months, with prevalence rates of 79.3% and 71.7%, respectively.
3. Age Factor: The study suggests that adverse effects like thrombocytopenia and elevated aminotransferases are more common in SMA patients who are older than 8 months. This indicates that age may play a role in the safety profile of the treatment.
4. Limitations: The study acknowledges the paucity of randomized control trial data and low quality of evidence to firmly establish the safety and efficacy of onasemnogene abeparvovec in SMA treatment.

Findings:

Despite the limitations, the data suggest that onasemnogene abeparvovec is a valuable treatment option for SMA patients. It shows promise in improving motor skills and milestones, although it comes with a set of adverse effects that are more prevalent in patients older than 8 months. The report is a significant contribution to the field as it provides a comprehensive review of existing studies on the subject, although it calls for more high-quality, randomized control trials to further establish the safety and efficacy of the treatment. The study was published in the Journal of Paediatrics and Child Health in 2023.