Spinal Muscular Atrophy Medication

Updated: May 29, 2019
  • Author: Jeffrey Rosenfeld, MD, PhD, FAAN; Chief Editor: Stephen L Nelson, Jr, MD, PhD, FAACPDM, FAAN, FAAP  more...
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Medication Summary

In December 2016, the FDA approved nusinersen, the first drug approved to treat children (including newborns) and adults with spinal muscular atrophy (SMA). The recombinant AAV9-based gene therapy, onasemnogene abeparvovec, was approved in May 2019 for SMA type 1 in children aged 2 years or younger.


Antisense Oligonucleotides

Class Summary

Antisense oligonucleotides (ASO) designed to treat SMA caused by mutations in chromosome 5q that lead to SMN protein deficiency may be considered for treatment.

Nusinersen (Spinraza)

In studies in transgenic animal models of SMA, nusinersen was shown to increase exon 7 inclusion in SMN2 messenger ribonucleic acid (mRNA) transcripts and production of full-length SMN protein. It is indicated for SMA in pediatric and adults patients.


Gene Therapy

Class Summary

Recombinant gene therapy provides specificity to precisely treat gene deficiency.

Onasemnogene abeparvovec (Zolgensma)

Recombinant AAV9-based gene therapy designed to deliver a copy of the gene encoding the human survival motor neuron (SMN) protein. It is indicated for gene replacement therapy in children aged 2 years or younger with spinal muscular atrophy (SMA) type 1 (also called Werdnig-Hoffman disease) who have biallelic mutation in the survival motor neuron 1 (SMN1) gene.