TY - JOUR
T1 - Nusinersen in type 1 SMA infants, children and young adults
T2 - Preliminary results on motor function
AU - Italian EAP working Group
AU - Pane, Marika
AU - Palermo, Concetta
AU - Messina, Sonia
AU - Sansone, Valeria A
AU - Bruno, Claudio
AU - Catteruccia, Michela
AU - Sframeli, Maria
AU - Albamonte, Emilio
AU - Pedemonte, Marina
AU - D'Amico, Adele
AU - Brigati, Giorgia
AU - de Sanctis, Roberto
AU - Coratti, Giorgia
AU - Lucibello, Simona
AU - Bertini, Enrico
AU - Vita, Giuseppe
AU - Tiziano, Francesco Danilo
AU - Mercuri, Eugenio
N1 - Copyright © 2018 Elsevier B.V. All rights reserved.
PY - 2018/7
Y1 - 2018/7
N2 - 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.
AB - 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.
U2 - 10.1016/j.nmd.2018.05.010
DO - 10.1016/j.nmd.2018.05.010
M3 - Article
C2 - 29960818
SN - 0960-8966
VL - 28
SP - 582
EP - 585
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
IS - 7
ER -