Abstract
Introduction: SMA is a neurodegenerative disease with severe muscle atrophy and weakness of limbs and trunk due to loss of function of SMN1 gene. The clinical severity is best related to the number and function of the nearly identical SMN2 gene copies which can be modified by nusinersen. Licensed for SMA types 1,2,3, it is delivered intrathecal on days 0, 14, 28, at 2 months then 4 monthly.
Aims: To compare the respiratory outcomes before and after treatment with nusinersen.
Methods: We collected retrospectivelly data on hospital admissions for respiratory infections, non-invasive ventilation (NIV) pressures and CHOP scores (motor function scale) in the year before and after nusinersen commancement.
Results: 12 patients have completed maintenance doses with nusinersen since 2017:10 with SMA type1 (1 patient died in 2018), 1 with SMA1b, 1 with SMA2. Median age at diagnosis of SMA1 was 9 months and treatment started from 7 months to 5 years (median 23 months). Median CHOP intend score pre-nusinersen was 31 and post-nusinersen 41.5. The total number of admissions to intensive care for respiratory exacerbations pre-nusinersen was 26, 7 requiring intubation and post-nusinersen was 8, 4 requiring intubation. After nusinersen the NIV pressures of 3 patients reduced, increased for one and remained the same for 6. 1 patient was not on NIV.
Conclusion: The greatest effect of nusinersen is seen in the motor function[1]. Our results also show a reduction in the number of hospital admissions for respiratory exacerbations and need for intubation after nusinersen. This warrants furter study.
References:
1. Neuromuscul Disord 2019Nov;29(11):842-856
Footnotes
Cite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 5248.
This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.
This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).
- Copyright ©the authors 2020