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SMA Gene Therapy — RACP Paediatrics MCQ

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ModerateNeurology & DevelopmentSMA Gene TherapyRACP Paediatrics

A 6-month-old baby has been diagnosed with spinal muscular atrophy type 1 (Werdnig-Hoffmann disease). He has progressive hypotonia, weakness, tongue fasciculations, and absent reflexes. What targeted therapy is now available?

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Correct answer: E — Gene therapy (onasemnogene abeparvovec, Zolgensma)

Onasemnogene abeparvovec (Zolgensma) is an AAV9-based gene therapy that delivers a functional copy of the SMN1 gene. It is approved as a one-time IV infusion for SMA in children under 2 years. Nusinersen (Spinraza) is an alternative intrathecal antisense oligonucleotide therapy.

Reference: RACP – 2024 – Paediatric Curriculum: Neuromuscular Disorders