Study: Phase 2, open-label, multicenter, multinational, single-arm study
Treatment duration: Ongoing, results from a median of 2.9-year interim analysis
Participants: 25 presymptomatic, genetically diagnosed infants who were likely to develop Type 1 or 2 SMA aged ≤6 weeks at time of first dose
Primary endpoint: Time to death or respiratory intervention
Secondary endpoints: Attainment of WHO motor milestones and change from baseline in the CHOP INTEND motor function scale
Study limitations: Small participant group size and no sham control group; CHOP INTEND score was assessed only until a participant achieved the maximum score of 64. HINE-2 score was assessed until day 778, but not at later study visits
Safety: Consistent with the SPINRAZA prescribing information; no new safety concerns were identified. 80% (20/25) of participants had an adverse event (AE) that was mild or moderate in severity. Eight participants experienced AEs that were possibly or definitely related to the lumbar puncture procedure.
100% (25/25) of presymptomatic infants were alive without permanent ventilation.1
The majority of infants achieved the following WHO motor milestones:
Mean CHOP INTEND scores showed SPINRAZA improved motor function, with scores rising steadily until
day 183. The majority of patients achieved a maximum score of 64 and then remained stable over time.
CHOP INTEND=Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders.
aIn the original protocol, CHOP INTEND was to be assessed in participants at each visit up to day 778; however, this was amended to be until they had a maximum score of 64. Once a score of 64 was achieved, CHOP INTEND was no longer assessed.
“We are very, very thankful for the advances in science.”