rarerelated tag: ZolgensmaⓇ (onasemnogene abeparvovec-xioi)

Gene replacement therapy with onasemnogene abeparvovec (Zolgensma) enabled symptomatic infants with spinal muscular atrophy type 1 (SMA1) to achieve at least one episode of independent sitting, the open-label phase III STR1VE-EU trial showed.

Fourteen of 32 patients met the primary endpoint of achieving independent sitting for at least 10 seconds by age 18 months, reported Eugenio Mercuri, MD, PhD, of Catholic University in Rome, and colleagues. In contrast, none of 23 infants in a natural history cohort met that goal (P<0.0001), they wrote in Lancet Neurology.

Nearly all SMA1 patients who received onasemnogene abeparvovec — 31 of 32 infants in the intention-to-treat population — survived free from permanent ventilation at 14 months, a secondary endpoint. In the natural history cohort, only six infants achieved that outcome (P<0.0001).