Onasemnogene abeparvovec

Onasemnogene abeparvovec is an adeno-associated virus vector-based gene therapy that has been approved by the FDA in May 2019 for the treatment of infant patients (less than 2 years of age) with spinal muscular atrophy (SMA) and a specific mutation in the survival motor neuron 1 (SMN1) gene. SMA is a rare genetic disease that affects the survival and function of motor neurons, leading to debilitating and often fatal muscle weakness. As there is no cure for SMA, onasemnogene abeparvovec is a disease-modifying agent that decelerates the disease progression, improves motor function, and manages the symptoms. The use and effectiveness of onasemnogene abeparvovec in patients with advanced SMA, such as those with complete paralysis of the limbs and permanent dependence on ventilators, has not been evaluated. Onasemnogene abeparvovec is the first gene therapy that was approved for this indication in the USA. Nusinersen is another gene therapy that is currently approved by the FDA for the treatment of SMA in pediatric and adult patients. Developed by AveXis, a Novartis company, onasemnogene abeparvovec is commonly marketed as Zolgensma®, which is available as a single-dose intravenous infusion. Onasemnogene abeparvovec for therapeutic use and marketing is currently being assessed by the EU and an intrathecal formulation of the drug is currently undergoing clinical development in the USA.