Subacute Liver Failure Following Gene Replacement Therapy for Spinal Muscular Atrophy Type 1

J Pediatr. 2020 Oct;225:252-258.e1. doi: 10.1016/j.jpeds.2020.05.044. Epub 2020 May 28.

Abstract

Spinal muscular atrophy is a neurodegenerative disease resulting from irreversible loss of anterior horn cells owing to biallelic deletions/mutations in the survival motor neuron (SMN) 1 gene. Gene replacement therapy using an adeno-associated virus vector containing the SMN gene was approved by the US Food and Drug Administration in May 2019. We report 2 cases of transient, drug-induced liver failure after this therapy.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chemical and Drug Induced Liver Injury / diagnosis*
  • Chemical and Drug Induced Liver Injury / drug therapy
  • Chemical and Drug Induced Liver Injury / pathology
  • Female
  • Genetic Therapy / adverse effects*
  • Genetic Therapy / methods
  • Glucocorticoids / administration & dosage
  • Humans
  • Infant
  • Male
  • Oligonucleotides / administration & dosage
  • Oligonucleotides / adverse effects*
  • Prednisolone / administration & dosage
  • Spinal Muscular Atrophies of Childhood / drug therapy*

Substances

  • Glucocorticoids
  • Oligonucleotides
  • nusinersen
  • Prednisolone