Nusinersen (or Spinraza®) was the first drug to obtain marketing authorization for SMA. It is largely based on the positive results obtained in the ENDEAR (in infants with ADS aged up to 7 months and with two copies of SMN2) and CHERISH trials (in children with ADS aged 2 to 12 years ).
Long-term positive results from the EMBRACE trial
The EMBRACE trial involved infants and children with symptomatic SMA who were not eligible for ENDEAR or CHERISH trials due to their age or their number of SMN2 copies. Initially composed of two parts, it was to compare in a first double-blind and randomized part the effect of nusinersen in 14 participants to the effect of a sham procedure in 7 participants for 14 months. This sham procedure was completed earlier than expected due to positive results of nusinersen obtained in the ENDEAR trial so that all participants could receive nusinersen in the second part of this trial and then enter the extension phase SHINE.
No side effects were reported in this trial. After approximately 28 months follow-up, results showed a functional improvement in participants on nusinersen increasing when nusinersen was taken at the start of the trial (during the first part of the trial) compared to those who received the sham procedure before taking nusinersen. One participant who received the sham procedure in the first part of the trial died before he could benefit from treatment with nusinersen.