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

Marika Pane, Concetta Palermo, Sonia Messina, Valeria A Sansone, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Giorgia Brigati, Roberto De Sanctis, Giorgia Coratti, Simona Lucibello, Enrico Bertini, Enrico Silvio Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri, Eugenio Maria Mercuri

Research output: Contribution to journalArticle

42 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)582-585
Number of pages4
JournalNeuromuscular Disorders
Publication statusPublished - 2018


  • SMA


Dive into the research topics of 'Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function.'. Together they form a unique fingerprint.

Cite this