ABSTRACT
Objective
The aim of the study was to report 12‐month changes after treatment with Nusinersen in a cohort of 85 type I Spinal Muscular Atrophy patients of age ranging from 2 months to 15 years and 11 months.
Methods
All patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination‐Section 2 (HINE‐2).
Results
Two of the 85 had 1 SMN2 copy, 61 had 2 copies, 18 had 3 copies. In 4 patients the SMN2 copy number was not available. At baseline the mean CHOP INTEND scores ranged between 0 and 52 (mean: 15.66, SD: +13.48), and the mean HINE‐2 score between 0 and 5 (mean: 0.69, SD:+1.23).
There was a difference between baseline and the 12‐month scores on both the CHOP INTEND and the HINE‐2 for the whole group (p<0.001) as well as for the subgroups with 2 SMN2 copies (p<0.001), and for those with 3 SMN2 copies (p<0.001). The difference was found not only in patients younger than 210 days at baseline (p<0.001) but also in those younger than 5 years on the CHOP INTEND and younger than 2 years on the HINE‐2.
Interpretation
Our results, expanding the age range and the severity of type I patients treated with Nusinersen over one year, provide additional data on the range of efficacy of the drug that will be helpful to make an informed decision on whether to start treatment in patients of different age and severity.
This article is protected by copyright. All rights reserved.
, admin,
No comments:
Post a Comment