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Neuropediatrics 2025; 56(01): 002-011
DOI: 10.1055/a-2379-7069
Original Article

Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Real-World Experience from a Single Center

Mirella Gaboli 
1   Paediatric Pulmonology Unit, Department of Paediatrics, Instituto de Biomedicina de Sevilla, IBiS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain
,
Mercedes López Lobato
2   Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario Virgen del Rocío, Sevilla, Spain
,
Justo Valverde Fernández
3   Paediatric Gastroenterology, Hepatology and Nutrition Unit, Department of Paediatrics, Hospital Universitario Virgen del Rocío, Sevilla, Spain
,
Patricia Ferrand Ferri
4   Paediatric Physical Medicine and Rehabilitation Department, Hospital Universitario Virgen del Rocío, Sevilla, Spain
,
Eloisa Rubio Pérez
5   Methodological and Statistical Management Unit, Fundación para la Gestión de la Investigación en Salud de Sevilla (FISEVI), Hospital Universitario Virgen del Rocío, Sevilla, Spain
,
Henry A. Andrade Ruiz
5   Methodological and Statistical Management Unit, Fundación para la Gestión de la Investigación en Salud de Sevilla (FISEVI), Hospital Universitario Virgen del Rocío, Sevilla, Spain
,
José María López-Puerta González
6   Spine Surgery, Department of Orthopaedic Surgery and Traumatology, Universitary Hospital Virgen del Rocío, Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER–BBN), Sevilla, Spain
,
Marcos Madruga-Garrido
7   Neurología Pediátrica, Hospital Viamed Santa Angela de la Cruz and Neurolinkia, Sevilla, Spain
› Author Affiliations Funding None.
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Abstract

Background Due to the limited data from clinical trials and real-world settings in the realm of nusinersen, there is a need for further evidence. This study seeks to assess the impact of nusinersen, when combined with standard care, on bulbar function, respiratory function, and the necessity for respiratory support among pediatric patients with spinal muscular atrophy (SMA).

Methods Prospective observational study, involving pediatric SMA patients (Types 1–3) undergoing nusinersen treatment at the Hospital Universitario Virgen del Rocío in Spain over at least 24 months. The cohort included 11 SMA type 1 patients, comprising 6 type 1b and 5 type 1c, 12 SMA type 2 patients, and 5 SMA type 3 patients.

Results Twenty-eight pediatric patients were enrolled with the majority being male (n = 20). Patients with type 1 were diagnosed and received treatment significantly earlier than those with types 2 and 3 (p < 0.001). Additionally, there was a longer period between diagnosis and the start of treatment in types 2 and 3 (p = 0.002). Follow-up revealed statistically improved functional and respiratory outcomes associated with earlier initiation of nusinersen treatment at 6, 12, and 24 months in all phenotypes. The ability to swallow and feed correctly remained unchanged throughout the study, with SMA type 1c patients maintaining oral feeding in contrast to patients with SMA type 1b. Notably, no deaths were recorded.

Conclusions This study provides important insights into the real-world clinical progress of pediatric SMA patients and their response to nusinersen treatment, highlighting the significance of early intervention for better functional and respiratory outcomes.

Keywords

spinal muscular atrophy - children - nusinersen - respiratory function - bulbar function

Supplementary Material



Publication History

Received: 24 April 2024

Accepted: 01 August 2024

Accepted Manuscript online:
05 August 2024

Article published online:
30 August 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

Letter to this article:

Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: CorrespondenceNeuropediatrics 2025; 56(01): 061-062
DOI: 10.1055/a-2434-6190

 

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