Abstract No. 594 Nusinersen for spinal muscular atrophy: the era of interventional radiology molecular therapy is here

Abstract

Spinal muscular atrophy (SMA) is a genetic disorder caused by mutations in the SMN1 gene resulting in muscle weakness and atrophy. The purpose of this study is to evaluate our initial experience with intrathecal administration of Nusinersen for treatment of SMA. From March to July 2017, 13 patients with SMA types 1 or 2 have received a total of 31 intrathecal treatments using standard lumbar puncture technique. All procedures were performed under general anesthesia or local anesthetic only. The Hammersmith Infant Neurodevelopmental Evaluation tool was used to evaluate function and treatment response. The established protocol is 4 induction doses then every 4 months for life. Drug cost is $120,000/dose. Technical success without complication was achieved in all cases. Follow-up assessment via Hammersmith scoring has showed improvement in the first 3 patients that have completed the induction phase. Neusinersen has ushered in molecular therapy to pediatric intervention. This genetically based treatment has shown gratifying results, but raises the dilemma of a high cost solution to a rare disease.