Tag: rare disease therapy
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FDA Approves Gene Therapy for Treatment of Spinal Muscular Atrophy — Itvisma (onasemnogene abeparvovec‑brve)
Background and mechanism Spinal muscular atrophy (SMA) is an autosomal‑recessive neurodegenerative disorder caused by loss‑of‑function mutations in the SMN1 gene, resulting in reduced survival motor neuron (SMN) protein, progressive motor neuron loss, and muscle atrophy. Gene‑replacement therapy using adeno‑associated virus (AAV) vectors delivers a functional copy of SMN1 to motor neurons, restoring SMN protein expression