Children Treated Presymptomatically With Nusinersen Continue Surviving and Meeting Motor Milestones After 2 Years of Treatment 

As published in the journal Neuromuscular Disorders, 25 children who were genetically diagnosed with spinal muscular atrophy (SMA) and treated presymptomatically with nusinersen (Spinraza; Biogen, Cambridge, MA) are alive without needing permanent ventilation. These children were treated in the open-label phase 2 NURTURE trial (NCT02386553) from which there are now 45.4 months of data. All children treated in the study are now age 25 months or more.

The children have also been reaching and maintaining their motor milestones with all participants able to sit without support and 88% able to walk independently. Typically, the majority of children with SMA left untreated lose these milestones or never achieve them. 
The results also demonstrated durability of effect with children making progress throughout the study and most achieving motor milestones at ages that are similar to those expected for healthy children.

“This pioneering study has far surpassed what we thought was possible and redefined our expectations of how early treatment helps individuals with SMA achieve optimal outcomes,” said Darryl De Vivo, M.D., Sidney Carter Professor of Neurology and Pediatrics, Columbia University Irving Medical Center in New York. “The extraordinary results achieved in this study underline the critical importance of newborn screening and early treatment of the clinically normal infants with SMA before the onset of any clinical symptoms.”

The mean Children’s Hospital of Pennsylvania Infant Test of Neuromuscular Disorders (CHOP-INTEND) score of motor function for the 10 children with 3 copies of the gene that nusinersen upregulates, SMN2, is 64 (the maximum on that scale), and for the 15 children with 2 copies of SMN2, the mean CHOP-INTEND score is 62.1.