{"title":"Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type","authors":"Frédérique Audic , Sonia M. Dubois , Julien Durigneux , Christine Barnerias , Arnaud Isapof , Marie-Christine Nougues , Jean-Baptiste Davion , Christian Richelme , Carole Vuillerot , Laure Legoff , Pascal Sabouraud , Claude Cances , Vincent Laugel , Juliette Ropars , Caroline Espil-Taris , Valérie Trommsdorff , Anne Pervillé , Marta Gomez Garcia-de-la-Banda , Hervé Testard , Mondher Chouchane , Isabelle Desguerre","doi":"10.1016/j.arcped.2023.10.009","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p><span><span>Spinal muscular atrophy (SMA) is a rare genetic </span>neuromuscular disorder<span> due to an autosomal recessive mutation in the survival motor neuron 1 gene (</span></span><em>SMN1</em><span><span><span>), causing degeneration of the anterior horn cells of the spinal cord and resulting in </span>muscle atrophy<span>. This study aimed to report on the 36-month follow-up of children with SMA treated with nusinersen<span> before the age of 3 years. Changes in motor function, nutritional and ventilatory support, and orthopedic outcomes were evaluated at baseline and 36 months after </span></span></span>intrathecal administration of nusinersen and correlated with SMA type and </span><em>SMN2</em> copy number.</p></div><div><h3>Results</h3><p>We found that 93% of the patients gained new motor skills during the 3 years—standing without help for 12 of 37 and walking with help for 11 of 37 patients harboring three <em>SMN2</em> copies. No patients with two copies of <em>SMN2</em> can stand alone or walk. Patients bearing three copies of <em>SMN2</em> are more likely to be spared from respiratory, nutritional, and orthopedic complications than patients with two <em>SMN2</em> copies.</p></div><div><h3>Conclusion</h3><p><span>Children with SMA treated with nusinersen continue to make motor acquisitions at 3 years after initiation of treatment. Children with two </span><em>SMN2</em> copies had worse motor, respiratory, and orthopedic outcomes after 3 years of treatment than children with three copies.</p></div>","PeriodicalId":55477,"journal":{"name":"Archives De Pediatrie","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives De Pediatrie","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0929693X23002117","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
Background
Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder due to an autosomal recessive mutation in the survival motor neuron 1 gene (SMN1), causing degeneration of the anterior horn cells of the spinal cord and resulting in muscle atrophy. This study aimed to report on the 36-month follow-up of children with SMA treated with nusinersen before the age of 3 years. Changes in motor function, nutritional and ventilatory support, and orthopedic outcomes were evaluated at baseline and 36 months after intrathecal administration of nusinersen and correlated with SMA type and SMN2 copy number.
Results
We found that 93% of the patients gained new motor skills during the 3 years—standing without help for 12 of 37 and walking with help for 11 of 37 patients harboring three SMN2 copies. No patients with two copies of SMN2 can stand alone or walk. Patients bearing three copies of SMN2 are more likely to be spared from respiratory, nutritional, and orthopedic complications than patients with two SMN2 copies.
Conclusion
Children with SMA treated with nusinersen continue to make motor acquisitions at 3 years after initiation of treatment. Children with two SMN2 copies had worse motor, respiratory, and orthopedic outcomes after 3 years of treatment than children with three copies.
期刊介绍:
Archives de Pédiatrie publishes in English original Research papers, Review articles, Short communications, Practice guidelines, Editorials and Letters in all fields relevant to pediatrics.
Eight issues of Archives de Pédiatrie are released annually, as well as supplementary and special editions to complete these regular issues.
All manuscripts submitted to the journal are subjected to peer review by international experts, and must:
Be written in excellent English, clear and easy to understand, precise and concise;
Bring new, interesting, valid information - and improve clinical care or guide future research;
Be solely the work of the author(s) stated;
Not have been previously published elsewhere and not be under consideration by another journal;
Be in accordance with the journal''s Guide for Authors'' instructions: manuscripts that fail to comply with these rules may be returned to the authors without being reviewed.
Under no circumstances does the journal guarantee publication before the editorial board makes its final decision.
Archives de Pédiatrie is the official publication of the French Society of Pediatrics.