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Turkish Journal of Medical Sciences

Abstract

Background/aim: Available data regarding the effects of nusinersen on respiratory function in the real-world setting are uncertain. We aim to evaluate the impact of nusinersen on respiratory outcomes with a follow-up period of up to 72 months in patients with symptomatic spinal muscular atrophy type 1 (SMA type1).

Materials and methods: Respiratory status is defined similarly to previous studies: spontaneous breathing, non-invasive ventilatory support for ≤16 hours per day, and permanent assisted ventilation. The planned evaluation time was day 180 (after the fourth dose), day 300 (after the fifth dose), and after the last injection for patients who received nusinersen for two years or more.Results: Our cohort consisted of 32 patients.The mean age at the treatment initiation was 6.6 months (2.5-16 months). Twenty-eight of 32 patients were eligible for evaluation after the fourth dose. Twenty-three of 28 patients were eligible for assessment after the fifth dose of nusinersen. Eight patients received nusinersen for two years or more (26-72 months).Four did not need ventilatory support at age 30-81 months at the last assessment. One was successfully weaned from invasive ventilatory support after the tenth dose of nusinersen.The respiratory status of most patients remained stable or worsened following the fourth and fifth doses of nusinersen. There were no significant differences in respiratory status between patients who received nusinersen at six months or younger and those older than six months after the fourth and fifth doses of nusinersen (p>0.05).Conclusion: Improved respiratory functions of our patients treated with nusinersen for two years or more are generally not expected in the natural course of the disease. However, in our cohort, patients treated with nusinersen mainly maintained their current respiratory status, and many patients required ventilatory support despite treatment with nusinersen. Therefore, our findings may reflect the limited efficacy of nusinersen in symptomatic patients.

Author ORCID Identifier

MEHMET AKİF KILIÇ: 0000-0002-6571-8449

FULYA KÜREKÇİ: 0000-0002-6872-8781

OSMAN KİPOĞLU: 0000-0001-9208-6697

ORHAN COŞKUN: 0000-0001-9229-404X

BURÇİN KARACEBEY: 0000-0001-8857-4356

SELAHATTİN KATAR: 0000-0002-5195-2832

RIDVAN AVCI: 0000-0002-8210-1280

HÜLYA GENÇ: 0000-0001-8869-0277

ERKAN ÇAKIR: 0000-0002-1438-7854

EDİBE YILDIZ: 0000-0002-8016-0404

DOI

10.55730/1300-0144.6018

Keywords

nusinersen efficacy, respiratory outcomes, Type 1 spinal muscular atrophy

First Page

702

Last Page

709

Publisher

The Scientific and Technological Research Council of Türkiye (TÜBİTAK)

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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