Single-dose gene-replacement therapy for spinal muscular atrophy

Mendell et al. (2017). N Engl J Med DOI: 10.1056/NEJMoa1706198 Citations: 2756

Key findings

Pivotal trial demonstrating Zolgensma (AAV9-SMN1) efficacy in SMA. All 15 patients alive without ventilation at 20 months. Led to FDA approval of first systemic in vivo gene therapy for monogenic disease.

Parts used

AAV9 Serotype