Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series.

Asian Enzyme replacement therapy Idursulfase beta Mucopolysaccharidosis

Journal

Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422

Informations de publication

Date de publication:
Sep 2023
Historique:
received: 01 02 2023
revised: 07 07 2023
accepted: 07 07 2023
medline: 6 9 2023
pubmed: 6 9 2023
entrez: 6 9 2023
Statut: epublish

Résumé

Mucopolysaccharidosis (MPS) type II (Hunter syndrome) is a rare X-linked, recessive, lysosomal storage disorder caused by the deficit of the enzyme iduronate 2-sulfatase (IDS), resulting in accumulation of glycosaminoglycans (GAGs) impairing cellular function in multiple organ systems. Idursulfase (Elaprase, Takeda Pharmaceuticals) and idursulfase beta (Hunterase, GC Biopharma Corp.) are the two currently available enzyme replacement therapies (ERT) for MPS II in Malaysia. ERT in patients with MPS II is associated with improvements in somatic symptoms, pulmonary function, endurance, joint mobility, and quality of life. Though mostly well tolerated, infusion-associated reactions (IARs), such as allergic (IgE-mediated) or nonallergic (non- immunologic) reactions can develop during ERT. In certain cases, when patients develop recurrent IARs despite reduced infusion rate and premedication, either interruption or cessation of ERT might be necessary. However, interruption of ERT is associated with worsening of clinical symptoms such as recurrent respiratory infections, difficulty in standing and walking, and increased joint stiffness, emphasizing the need for continuation of ERT. Here we report successful long-term experience with the use of idursulfase beta in two adolescent Malaysian patients with MPS II, who experienced recurrent infusion-associated reactions warranting discontinuation of ERT with idursulfase.

Identifiants

pubmed: 37670899
doi: 10.1016/j.ymgmr.2023.100991
pii: S2214-4269(23)00037-X
pmc: PMC10475840
doi:

Types de publication

Case Reports

Langues

eng

Pagination

100991

Informations de copyright

© 2023 The Authors.

Déclaration de conflit d'intérêts

The authors declare that they have no conflict of interest.

Références

Eur J Pediatr. 2008 Mar;167(3):267-77
pubmed: 18038146
Int J Mol Sci. 2020 Feb 13;21(4):
pubmed: 32070051
Orphanet J Rare Dis. 2011 Nov 07;6:72
pubmed: 22059643
Expert Opin Orphan Drugs. 2017;5(4):295-307
pubmed: 29158997
Mol Genet Metab Rep. 2019 Aug 31;21:100499
pubmed: 31497505
Mol Genet Metab. 2012 Nov;107(3):508-12
pubmed: 22926198
Mol Genet Metab Rep. 2022 May 05;31:100878
pubmed: 35782619
J Hum Genet. 2017 Feb;62(2):167-174
pubmed: 27829684
Genet Med. 2011 Feb;13(2):95-101
pubmed: 21150784
Mol Genet Metab. 2017 Jul;121(3):227-240
pubmed: 28595941
Front Immunol. 2020 May 21;11:1000
pubmed: 32508845
Int J Mol Sci. 2020 Apr 23;21(8):
pubmed: 32340185
Genet Med. 2006 Aug;8(8):465-73
pubmed: 16912578
Mol Genet Metab Rep. 2017 May 11;12:28-32
pubmed: 28540187
Orphanet J Rare Dis. 2013 Mar 18;8:42
pubmed: 23497636
J Inherit Metab Dis. 2014 Sep;37(5):823-9
pubmed: 24596019

Auteurs

Mei-Yan Chan (MY)

Department of Genetics, Hospital Kuala Lumpur, Malaysia.

Andrew Jack Nelson (AJ)

Department of Genetics, Hospital Kuala Lumpur, Malaysia.

Lock-Hock Ngu (LH)

Department of Genetics, Hospital Kuala Lumpur, Malaysia.

Classifications MeSH