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Respiratory and Bulbar Support in Spinal Muscular Atrophy Type I Treated with Nusinersen

Published online by Cambridge University Press:  13 May 2025

Guillaume Gauvreau ,
Tarannum Behlim ,
Pamela Ng ,
Victoria Hodgkinson Open the ORCID record for Victoria Hodgkinson [Opens in a new window] ,
Kathryn Selby ,
Jean K. Mah Open the ORCID record for Jean K. Mah [Opens in a new window] ,
Hanna Kolski Open the ORCID record for Hanna Kolski [Opens in a new window] ,
Maria Castro-Codesal ,
Megan Crone  and
Edward Leung
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Guillaume Gauvreau
Affiliation:
Faculty of Medicine, McGill University, Montreal, QC, Canada
Tarannum Behlim
Affiliation:
Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Center, Montreal, QC, Canada
Pamela Ng
Affiliation:
Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Center, Montreal, QC, Canada
Victoria Hodgkinson
Affiliation:
Department of Clinical Neurosciences and Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada
Kathryn Selby
Affiliation:
Division of Neurology, Department of Pediatrics, BC Children’s Hospital, University of British Columbia Vancouver, Vancouver, Canada
Jean K. Mah
Affiliation:
Department of Clinical Neurosciences and Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada Department of Pediatrics, University of Calgary, Calgary, Canada
Hanna Kolski
Affiliation:
Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada Division of Neurology, Stollery Children’s Hospital, Edmonton, Alberta, Canada
Maria Castro-Codesal
Affiliation:
Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada Division of Respiratory Medicine, Stollery Children’s Hospital, Edmonton, Alberta, Canada
Megan Crone
Affiliation:
Division of Pediatric Neurology, Department of Neurology, University of Saskatchewan, Saskatoon, Canada
Edward Leung
Affiliation:
Department of Pediatrics, Health Sciences Centre, Winnipeg, Canada
Kristina Joyal
Affiliation:
Department of Pediatrics, Health Sciences Centre, Winnipeg, Canada
Craig Campbell
Affiliation:
Department of Pediatrics, Children’s Health Research Institute, London Health Sciences Centre, Western University, London, Canada
Laura McAdam
Affiliation:
Department of Pediatrics, Holland Bloorview Kids Rehabilitation Hospital, Bloorview Research Institute, University of Toronto, Toronto, Canada
Hernan Gonorazky
Affiliation:
Department of Pediatrics, Sick Kids Hospital, University of Toronto, Toronto, Canada
Hugh McMillan
Affiliation:
Department of Pediatrics, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada
Anna McCormick
Affiliation:
Department of Pediatrics, Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Canada
Colleen O’Connell
Affiliation:
Stan Cassidy Centre for Rehabilitation, Fredericton, Canada Dalhousie Medicine New Brunswick, Saint John, Canada
Monique Taillon
Affiliation:
Stan Cassidy Centre for Rehabilitation, Fredericton, Canada Dalhousie Medicine New Brunswick, Saint John, Canada
Maryam Oskoui*
Affiliation:
Faculty of Medicine, McGill University, Montreal, QC, Canada Department of Pediatrics and Neurology & Neurosurgery, McGill University, Montreal, QC, Canada
*
Corresponding author: Dr. Maryam Oskoui; Email: Maryam.oskoui@mcgill.ca
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Abstract:

Objective:

The aim of this study is to assess the evolution of respiratory and feeding support in children with spinal muscular atrophy (SMA) type 1 after 24 months of nusinersen treatment.

Methods:

Data on SMA type 1 children treated with nusinersen between 2017 and 2023 from the Canadian Neuromuscular Disease Registry were extracted. The cohort was divided into two groups based on age at treatment initiation: ≤2 years and >2 years. The primary outcome was the (i) time to death or needing full-time (≥16 hours/day) ventilation and (ii) time to needing feeding tube support. The secondary outcomes were differences in respiratory and feeding support requirements between the two groups at 24-month follow-up.

Results:

Thirty-two children were included, and the median age (range) for treatment initiation was 3.2 months (0.8– 13.1) in children who initiated treatment at ≤2 years and 51.2 (28.7–183.8) in those who initiated at >2 years of age. The median age of death or full-time ventilation was 8.6 months (6–22.4) and 10.5 months (4–24) for the two groups, respectively. The median age for initiation of feeding support was 5.1 (1.7–26.4) and 14.5 months (3.9–130.6), respectively. At 24 months (n = 23), there were no significant differences between the need for respiratory or feeding tube support between the two treatment groups.

Conclusion:

Most children with SMA type 1 treated with nusinersen across Canada have continued need for respiratory and feeding support over time when initiated after symptom onset.

Résumé:

RÉSUMÉ:

Assistance respiratoire et alimentaire dans le cas de l’amyotrophie spinale de type I traitée au moyen du nusinersen.

Objectif :

Le but de cette étude est d’évaluer l’évolution de l’assistance respiratoire et alimentaire chez les enfants atteints d’amyotrophie spinale (AS) de type I après 24 mois de traitement au nusinersen.

Méthodes :

Des données portant sur les enfants atteints d’AS de type I traités au moyen du nusinersen entre 2017 et 2023 ont été extraites du Registre canadien des maladies neuromusculaires (RCMN). La cohorte a été divisée en deux groupes en fonction de l’âge des patients au début du traitement : ≤ 2 ans et > 2 ans. Deux résultats principaux ont été analysés : 1) le temps écoulé avant le décès ou avant la nécessité d’une ventilation à temps plein (≥ 16 heures/jour) ; 2) le temps écoulé avant la nécessité de recourir à une sonde d’alimentation. Les résultats secondaires ont porté sur les différences en matière d’assistance respiratoire et alimentaire entre les deux groupes lors d’un suivi effectué au bout de 24 mois.

Résultats :

Au total, 32 enfants ont été inclus dans cette étude. L’âge médian (fourchette) d’initiation d’un traitement au nusinersen était de 3,2 mois (0,8-13,1) chez les enfants ayant initié leur traitement à ≤ 2 ans et de 51,2 mois (28,7-183,8) chez ceux ayant initié le traitement à > 2 ans. L’âge médian des décès ou du recours à la ventilation à temps plein était respectivement de 8,6 mois (6-22,4) et de 10,5 mois (4-24) dans les deux groupes. L’âge médian des débuts de l’assistance alimentaire était respectivement de 5,1 mois (1,7-26,4) et 14,5 mois (3,9-130,6). À 24 mois (n = 23), aucune différence notable n’a été observée entre les deux groupes en ce qui concerne la nécessité de recourir à l’assistance respiratoire ou à une sonde d’alimentation.

Conclusion :

Au fil du temps, lorsqu’un traitement au nusinersen a débuté après l’apparition des symptômes de l’AS de type I, la plupart des enfants du Canada atteints de cette maladie ont donné à voir un besoin continu d’assistance respiratoire et alimentaire.

Keywords

clinical epidemiologyneuromuscular – pediatricneuromuscular disordersneurology – pediatricspinal muscular atrophy

Information

Type
Original Article
Information
Canadian Journal of Neurological Sciences , First View , pp. 1 - 8
Copyright
© The Author(s), 2025. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation

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