The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever

Neuromuscul Disord. 2022 Jul;32(7):575-577. doi: 10.1016/j.nmd.2022.06.002. Epub 2022 Jun 8.

Abstract

New molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome.

Keywords: Early treatment; Spinal muscular atrophy.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Humans
  • Muscular Atrophy, Spinal* / drug therapy
  • Oligonucleotides / therapeutic use

Substances

  • Oligonucleotides
  • nusinersen