Why the study?
The study aimed to evaluate outcomes related to safety and motor milestones following administration of onasemnogene abeparvovec in patients with spinal muscular atrophy from Latin America.
Does onasemnogene abeparvovec improve motor milestones and have an acceptable safety profile in symptomatic patients with SMA ≤24 months of age and ≤17 kg?
Does onasemnogene abeparvovec improve motor milestones and have an acceptable safety profile in symptomatic patients with SMA ≤24 months of age and ≤17 kg?
Onasemnogene abeparvovec demonstrated a safety profile consistent with previous studies and suggested benefit in motor milestone achievement for Latin American patients with SMA weighing ≤17 kg and aged ≤24 months.
Confirms acceptable safety in Latin American SMA infants; extends global trial data to this population.
Background: OFELIA aimed to evaluate outcomes related to safety and motor milestones following administration of onasemnogene abeparvovec, a one-time gene replacement therapy, for patients with spinal muscular atrophy (SMA) from Latin America. Methods: vg/kg) for symptomatic patients with SMA ≤24 months of age and ≤17 kg (grouped by age [0-12 vs >12-24 months] and weight [<8·5 kg vs ≥8·5 kg]). The primary endpoint was safety. The secondary endpoint was demonstration of motor milestones measured at screening and at 6, 12, and 18 months post-onasemnogene abeparvovec infusion, according to the World Health Organization Multicentre Growth Reference Study criteria. Findings: Sixteen patients were enrolled (n = 11/16 female; n = 10/16 SMA type 1) (n = 17 screened). All reported adverse events (AEs). Eleven reported serious AEs; 12 reported an AE of special interest, most commonly hepatotoxicity (asymptomatic) (n = 11/12), thrombocytopenia (n = 5/12), and thrombotic microangiopathy (n = 2/12). Two deaths occurred: one possibly related to treatment (AST >20 × upper limit of normal, sepsis, infection, multiorgan failure, thrombotic microangiopathy) and one due to respiratory infection. Most patients maintained/improved motor milestones up to 18 months post-onasemnogene abeparvovec (e.g., sitting, crawling, standing, walking), including those in the >12-24-month age group. Interpretation: Most common AEs of special interest were hepatotoxicity, thrombocytopenia, and thrombotic microangiopathy; incidence rates (hepatotoxicity, thrombocytopenia) were similar compared with studies in patients >6 months of age and >8·5 kg. Efficacy data on demonstration of motor milestones suggest that Latin American patients with SMA may benefit from onasemnogene abeparvovec treatment. Funding: The study was funded by Novartis Pharma AG, Basel, Switzerland.
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Saute et al. (2025) studied this question.
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