Case report: A case of spinal muscular atrophy in a preterm infant: risks and benefits of treatment.
Zolgensma
gene therapy
newborn screening
preterm
spinal muscular atrophy
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2023
2023
Historique:
received:
29
05
2023
accepted:
15
08
2023
medline:
2
10
2023
pubmed:
2
10
2023
entrez:
2
10
2023
Statut:
epublish
Résumé
Spinal muscular atrophy (SMA) is a neuromuscular genetic disorder caused by the loss of lower motor neurons leading to progressive muscle weakness and atrophy. With the rise of novel therapies and early diagnosis on newborn screening (NBS), the natural history of SMA has been evolving. Earlier therapeutic interventions can modify disease outcomes and improve survival. The role of treatment in infants born preterm is an important question given the importance of early intervention. In this study, we discuss the case of an infant born at 32 weeks who was diagnosed with SMA on NBS and was treated with Spinraza
Identifiants
pubmed: 37780708
doi: 10.3389/fneur.2023.1230889
pmc: PMC10539898
doi:
Types de publication
Case Reports
Langues
eng
Pagination
1230889Informations de copyright
Copyright © 2023 Nigro, Grunebaum, Kamath, Licht, Malcolmson, Jeewa, Campbell, McMillan, Chakraborty, Tarnopolsky and Gonorazky.
Déclaration de conflit d'intérêts
EN has been a speaker for Biogen, Novartis, and Roche and on the advisory board for Novartis. HG has been a speaker and on the advisory board for Biogen, Novartis, and Roche. CC has been site investigator for Biogen and Roche clinical trials and on advisory board for Biogen, Roche and Novartis. AJ is on an advisory board for Ultragenyx and Merck and has received an unrestricted educational grant from Abbott. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
JAMA Netw Open. 2022 Mar 1;5(3):e221947
pubmed: 35275165
BMC Pediatr. 2001;1:1
pubmed: 11248841
Neurology. 2014 Aug 26;83(9):810-7
pubmed: 25080519
Transfus Med. 2019 Feb;29(1):20-22
pubmed: 30859640
Nephrology (Carlton). 2013 Mar;18(3):180-2
pubmed: 23279726
Muscle Nerve. 2015 Feb;51(2):157-67
pubmed: 25346245
J Clin Invest. 2019 Nov 1;129(11):4817-4831
pubmed: 31589162
Curr Med Chem. 2022;29(23):4097-4112
pubmed: 34720076
Muscle Nerve. 2021 Aug;64(2):153-155
pubmed: 33959970
Am J Perinatol. 2003 Jan;20(1):49-54
pubmed: 12638081
J Hepatol. 2021 Mar;74(3):560-566
pubmed: 33186633
Nat Genet. 2015 Oct;47(10):1187-93
pubmed: 26301494
J Pediatr. 1995 May;126(5 Pt 1):769-76
pubmed: 7752005
Cells. 2022 Jan 26;11(3):
pubmed: 35159227
BMJ Clin Evid. 2011 Sep 15;2011:
pubmed: 21920055
J Perinatol. 2021 Aug;41(8):1783-1796
pubmed: 34012057
Platelets. 2020 Aug 17;31(6):692-699
pubmed: 32200697
J Clin Med. 2021 Aug 30;10(17):
pubmed: 34501343