Hope for children with spinal muscular atrophy (SMA) Type 1

Our Network has led the way in ground breaking research, giving new hope to children with SMA who often die before they are two. There has been no specific treatment for SMA, which affects the motor neurons of the spinal cord, causing muscle weakness and wasting.

This research was a collaborative effort involving the General Paediatrics, Intensive Care, Respiratory, Sleep and Neurology teams at both Sydney Children’s Hospital, Randwick and The Children’s Hospital at Westmead.

Our experts were part of the ENDEAR study group, published in the New England Journal of Medicine, recognised for the significant findings gained in clinical trials in Spinal Muscular Atrophy (SMA) type 1. The study, Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy, looked at the safety and efficacy of the Nusinersen treatment.

The results indicated that those who received Nusinersen were significantly more likely to show improvements in motor function and life expectancy than those in the control group who received a sham medication.

While further research is necessary to confirm the safety and efficacy of this novel therapy, and early detection and treatment need to be explored in regards to Nusinersen, thise study is significant in the field of SMA and provide hopes to families devastated by this rare genetic illness.