Introduction and objective:
Spinal muscular atrophy (SMA) is a degenerative neuromuscular disorder characterized by the progressive degeneration of α-motor neurons within the spinal cord and brainstem, leading to muscle weakness and atrophy. As the disease progresses, patients experience impaired ability to safely ingest food and maintain independent respiration, ultimately culminating in fatality. The aim of the review is to assess the efficacy and safety of using Onasemnogene Abeparvovec in the treatment of SMA.

Review methods:
The PubMed database was searched to identify studies assessing the effectiveness and safety of using Onasemnogene Abeparvovec. A total of twelve studies were identified using the search terms ‘Onasemnogene’, ‘AVXS-101’, ‘gene-replacement therapy’ and ‘spinal muscle atrophy’, with filters applied for ‘Clinical Trial’ and ‘Randomized Controlled Trial’. Four of them did not focus on the efficacy of Onasemnogene in treating SMA1 and were therefore excluded from this analysis.

Brief description of the state of knowledge:
Brief description of the state of knowledge. Onasemnogene Abeparvovec (Zolgensma®) is an FDA-approved gene therapy for treating all types of SMA in patients under two years of age at the time of treatment. This therapy uses the adeno-associated virus 9 (AAV9) capsid to deliver complementary DNA (cDNA) encoding the SMN protein directly to motor neurons. A single intravenous dose of AAV9 crosses the blood-brain barrier, providing a functional copy of the SMN1 gene to the cells, which then produces the SMN protein.

Summary:
Onasemnogene Abeparvovec has demonstrated substantial efficacy in treating SMA. The drug significantly enhances key clinical outcomes and is relatively safe to use, with only a few serious adverse effects attributed to the treatment.