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
. 2022 Jan;64(1):e15310.
doi: 10.1111/ped.15310.

The effects of nusinersen treatment on respiratory status of children with spinal muscular atrophy

Evrim Hepkaya  1 , Ayşe Ayzıt Kılınç Sakallı  1 , İpek Ülkersoy  2 , Azer Kılıç Başkan  1 , Hüseyin Arslan  1 , Özge Meral  1 , Tuğçe Damla Dilek  3 , Serhat Güler  4 , Sema Saltık  3 , Haluk Çokuğraş  1
Affiliations

The effects of nusinersen treatment on respiratory status of children with spinal muscular atrophy

Evrim Hepkaya et al. Pediatr Int. 2022 Jan.

Abstract

Background: Respiratory involvement is the main factor predicting the prognosis of spinal muscular atrophy (SMA). Significant responses in motor functions have been demonstrated with nusinersen, but pulmonary outcomes are still varied. We aimed to explore the effects of nusinersen on the respiratory functions of patients with SMA.

Methods: Patients with SMA who were receiving regular nusinersen treatment in our tertiary care hospital were enrolled in this study. We evaluated the patients in terms of the necessity to ventilatory or nutritional support, presence of motor involvement and other comorbidities related with prognosis at three consecutive assessments.

Results: The study group consisted of 43 patients (18 type 1, 12 type 2, and 13 type 3) with SMA with a mean age of 27.8 months at diagnosis and 60.8 months at the beginning of nusinersen treatment. The respiratory function improvements were noted in six patients at third assessment. Early initiation of nusinersen was significantly correlated with reduced hospital admissions (P = 0.026). Nutritional support and weight gain were remarkable in the ventilatory-supported group. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were significantly higher in the non-tracheostomized group in patients with SMA type 1 (P < 0.005).

Conclusions: We posit that nusinersen may change the natural prognosis of SMA and improve care of children with SMA. Following up children with SMA for longer periods under nusinersen may be beneficial for understanding the effects of treatment. Results of our study need to be supported by future long-term studies to reach a consensus on nusinersen, considering the overall genetic and environmental status as well as the cost-effectiveness of the treatment.

Keywords: non-invasive ventilation; nusinersen; spinal muscular atrophy; tracheostomy.

PubMed Disclaimer

References

    1. D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J. Rare Dis. 2011; 6: 71.
    1. Finkel SR, Bertini E, Muntoni F, Mercuri E. ENMC SMA Workshop Study Group. 209th ENMC International Workshop: Outcome measures and clinical trial readiness in spinal muscular atrophy 7-9 November 2014, Heemskerk, The Netherlands. Neuromuscul. Disord. 2015; 25: 593-602.
    1. Lorson CL, Rindt H, Shababi M. Spinal muscular atrophy: Mechanisms and therapeutic strategies. Hum. Mol. Genet. 2010; 15: 111-8.
    1. Coovert DD, Le TT, McAndrew EP et al. The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 1997; 6: 1205-14.
    1. Sugarman EA, Nagan N, Zhu H et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of >72,400 specimens. Eur. J. Hum. Genet. 2012; 20: 27-32.

LinkOut - more resources