What is Zolgensma and why is it considered a breakthrough?
A single-infusion gene therapy approved in 2019 for children under 2 with spinal muscular atrophy — transforming outcomes for a disease that killed most patients by age 2 — developed by AveXis, which Novartis bought for $8.7 billion in 2018.
SMA is caused by mutations in the SMN1 gene, leading to the loss of motor neurons and progressive muscle weakness. In its most severe form, Type 1, children typically die by age 2 without treatment. Zolgensma delivers a working copy of the gene using an adeno-associated virus vector in a single infusion. The FDA approved it on May 24, 2019 for children under 2 with SMA. ICER's president said Zolgensma was "dramatically transforming the lives of families" affected by the disease, and at two years of follow-up, no treated patients in early studies had shown deterioration in motor function. The therapy was developed by AveXis, which Novartis bought in April 2018 for $8.7 billion. Its clinical value is not in serious dispute; its price and the integrity of its regulatory submission are.