Abstract
Onasemnogene abeparvovec (OA) is a gene therapy based on the adeno-associated viral vector intravenous infusion carrying a transgene to synthesize survival motor neuron protein. It is the first example of a registered systemic gene therapy in medicine.
OA was registered in the EU in May 2020 and is indicated for a subgroup of patients with a diagnosis of spinal muscular atrophy (SMA). SMA is a rare, in most cases fatal disease without causal treatment.
The effectiveness of this one-time therapy has been proven with clinical trials as well as real world data. Presymptomatic therapy has the most significant efficacy.
The difficulty is the profile of side effects that can be extremely severe in exceptional cases.