Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

M. Pane, C. Palermo, S. Messina, V.A. Sansone, C. Bruno, M. Catteruccia, M. Sframeli, E. Albamonte, M. Pedemonte, A. D'Amico, G. Brigati, R. de Sanctis, G. Coratti, S. Lucibello, E. Bertini, G. Vita, F.D. Tiziano, E. Mercuri, On behalf of the Italian EAP working group

Research output: Contribution to journalArticlepeer-review

Abstract

We report preliminary data on the six month use of Nusinersen in 104 type 1 patients of age ranging from three months to 19 years, 9 months. Ten of the 104 were classified as 1.1, 58 as 1.5 and 36 as 1.9. Three patients had one SMN2 copy, 65 had two and 24 had three copies. In 12 the SMN2 copy number was not available. After six months an improvement of more than two points was found in 58 of the 104 (55.7%) on the CHOP INTEND and in 21 of the 104 (20.19%) on the Hammersmith Infant Neurological Examination (HINE). Changes more than two points were found in 26/71 patients older than two years, and in seven of the 20 older than 10 years. Changes ≥ four points were found in 20/71 older than two years, and in six of the 20 patients older than 10 years. The difference between baseline and six months on both CHOP INTEND and HINE was significant for the whole group (p <0.001) as well as for the subgroups with two (p <0.001), and three SMN2 copies (p <0.001). Our preliminary results suggest that functional improvement can be observed in type 1 patients outside the range of the inclusion criteria used in the Endear study. © 2018 Elsevier B.V.
Original languageEnglish
Pages (from-to)582-585
Number of pages4
JournalNeuromuscular Disorders
Volume28
Issue number7
DOIs
Publication statusPublished - 2018

Keywords

  • nusinersen
  • survival motor neuron protein 2, adolescent
  • adult
  • age distribution
  • Article
  • child
  • Children Hospital of Philadelphia Infant Test of Neuromuscular Disorder
  • clinical study
  • controlled study
  • Hammersmith Infant Neurological Examination
  • human
  • human tissue
  • infant
  • major clinical study
  • motor performance
  • neurologic examination
  • preliminary data
  • priority journal
  • spinal muscular atrophy
  • treatment duration
  • young adult

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