Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Jan 23;23(1):35.
doi: 10.1186/s12883-023-03063-3.

Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study

Hua Yang #  1   2 , Qiuji Tao #  1   3 , Dan Li  4 , Jie Yang  1   2 , Qianyun Cai  1   2 , Jing Gan  1   2 , Shaoping Huang  5 , Rong Luo  6   7
Affiliations

Assessment of motor function and nutritional status in children with spinal muscular atrophy treated with nusinersen after loading period in Western China: a retrospective study

Hua Yang et al. BMC Neurol. .

Abstract

Background: Spinal muscular atrophy (SMA) is a progressive degenerative neuromuscular disease. Nusinersen, with its quick onset of action, can benefit patients early in the treatment course. However, there are currently no clinical studies regarding the improvement in motor function and nutritional status of patients after loading period treatment with nusinersen. Here, we aimed to determine the efficacy of nusinersen in improving motor function and nutritional status in children with SMA treated with nusinersen after loading period in Western China.

Methods: In this retrospective study, data for all pediatric patients (aged < 18 years), with genetically confirmed diagnosis of SMA who were treated with nusinersen, were collected before initiation of treatment and after 2 months of treatment. We assessed motor function using standardized scales and nutritional status of patients with SMA as well as side effects of nusinersen.

Results: Forty-six pediatric patients aged < 18 years were enrolled in this study. After 2 months of treatment, the motor function of patients with SMA type 1, 2, and 3 improved. The difference in Revised Upper Limb Module scores from M0 to M2 was significant in patients with SMA type 2 and 3 (P = 0.004, P = 0.042, respectively). The difference in Hammersmith Functional Motor Scale Expanded scores from M0 to M2 in patients with SMA type 2 was also significant (P = 0.000). No significant differences were found for Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorder (CHOP-INTEND), Hammersmith Infant Neurologic Examination-Part 2 (HINE-2), and 6-Minute Walking Test (6MWT) scores between M0 and M2, but the scores of CHOP-INTEND, HINE-2, and 6MWT were all increased after loading period treatment. The overall improvement in nutritional status was not statistically significant. No serious adverse effects were observed.

Conclusions: Our study provides evidence for the efficacy and safety of nusinersen and the nutritional status of pediatric patients with SMA after the loading period treatment. Motor function of all patients improved after 2 months of loading period nusinersen treatment. Patients with a shorter disease duration showed better response to treatment. Careful surveillance of nutritional status is needed in patients with SMA.

Keywords: Children; Motor function measure; Nusinersen; Nutritional status; Spinal muscular atrophy.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Disease duration as a predictor of gain in HFMSE after 2 months of treatment. A change of two or more points in HFMSE showed in the figure. In the group that experienced motor responses the median disease duration was 0.23 ± 0.05 years, compared to the median disease duration of 0.47 ± 0.08 years in the group of patients that remained stable or worsened (P = 0.013)
Fig. 2
Fig. 2
WHO Motor Milestones change in SMA type 1 (n = 8) and SMA type 2 (n = 30) patients before and after loading period treatment
Fig. 3
Fig. 3
Longitudinal representations of percentages of maximum points on motor scales at M0 and M2 for all SMA subtypes
Fig. 4
Fig. 4
Comparison of values of WAZ at baseline (M0) and after the loading period (M2) treatment of nusinersen
Fig. 5
Fig. 5
Change from M0 to M2 in nutritional status in SMA types 1, 2, and 3
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Groen EJN, Talbot K, Gillingwater TH. Advances in therapy for spinal muscular atrophy: promises and challenges. Nat Rev Neurol. 2018;14(4):214–224. doi: 10.1038/nrneurol.2018.4. - DOI - PubMed
    1. Wei X, Tan H, Yang P, Zhang R, Tan B, Zhang Y, et al. Notable carrier risks for individuals having two copies of SMN1 in spinal muscular atrophy families with 2-copy alleles: estimation based on Chinese meta-analysis data. J Genet Couns. 2017;26(1):72–78. doi: 10.1007/s10897-016-9980-7. - DOI - PubMed
    1. Wirth B, Karakaya M, Kye MJ, Mendoza-Ferreira N. Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next. Annu Rev Genomics Hum Genet. 2020;21:231–261. doi: 10.1146/annurev-genom-102319-103602. - DOI - PubMed
    1. Weaver JJ, Natarajan N, Shaw DWW, Apkon SD, Koo KSH, Shivaram GM, et al. Transforaminal intrathecal delivery of nusinersen using cone-beam computed tomography for children with spinal muscular atrophy and extensive surgical instrumentation: early results of technical success and safety. Pediatr Radiol. 2018;48(3):392–397. doi: 10.1007/s00247-017-4031-6. - DOI - PubMed
    1. WHO Motor Development Study Windows of achievement for six gross motor development milestones. Acta Paediatr Suppl. 2006;450:86–95. - PubMed