High-Dose Ambroxol Therapy in Type 1 Gaucher Disease Focusing on Patients with Poor Response to Enzyme Replacement Therapy or Substrate Reduction Therapy.
Gaucher disease (GD)
Lyso-Gb1
ambroxol
chaperone therapy
enzyme replacement therapy (ERT)
suboptimal response
substrate reduction therapy (SRT)
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
04 Apr 2023
04 Apr 2023
Historique:
received:
14
03
2023
revised:
27
03
2023
accepted:
03
04
2023
medline:
14
4
2023
entrez:
13
4
2023
pubmed:
14
4
2023
Statut:
epublish
Résumé
Ambroxol hydrochloride (ABX), an oral mucolytic drug available over the counter for many years, acts as a pharmacological chaperone for mutant glucocerebrosidase, albeit at higher doses. Proof-of-concept reports have been published over the past decade on all three types of Gaucher disease (GD). Here, we assess the safety and efficacy of 12 months of 600 mg ambroxol per day in three groups of Type 1 GD patients with a suboptimal response to enzyme replacement therapy (ERT) or substrate reduction therapy (SRT), defined as platelet count < 100 × 10
Identifiants
pubmed: 37047707
pii: ijms24076732
doi: 10.3390/ijms24076732
pmc: PMC10095311
pii:
doi:
Substances chimiques
Ambroxol
200168S0CL
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Takeda (Japan)
ID : IISR-2017-104260
Références
Blood Cells Mol Dis. 2016 Jul;59:37-43
pubmed: 27282565
Blood. 2007 Oct 1;110(7):2296-301
pubmed: 17609429
Semin Hematol. 2004 Oct;41(4 Suppl 5):4-14
pubmed: 15468045
Eur J Neurol. 2019 Jul;26(7):1013-1018
pubmed: 30714262
Blood Cells Mol Dis. 2018 Feb;68:117-120
pubmed: 27866808
JAMA Neurol. 2020 Apr 1;77(4):427-434
pubmed: 31930374
Int J Mol Sci. 2022 Jan 30;23(3):
pubmed: 35163551
FEBS J. 2010 Apr;277(7):1618-38
pubmed: 20148966
J Clin Med. 2019 Oct 11;8(10):
pubmed: 31614613
Am J Hematol. 2018 Jun;93(6):E140-E142
pubmed: 29473199
J Parkinsons Dis. 2021;11(2):615-618
pubmed: 33612495
Blood Cells Mol Dis. 2012 Jan 15;48(1):45-50
pubmed: 22047948
Hum Mol Genet. 2005 Aug 15;14(16):2387-98
pubmed: 16000318
Br J Haematol. 2018 Aug;182(4):467-480
pubmed: 29808905
Ann Clin Transl Neurol. 2016 Feb 02;3(3):200-15
pubmed: 27042680
Blood Cells Mol Dis. 2018 Feb;68:203-208
pubmed: 28274788
J Biol Chem. 2009 Aug 28;284(35):23502-16
pubmed: 19578116
Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:82-7
pubmed: 25345089
Int J Mol Sci. 2022 Oct 13;23(20):
pubmed: 36293067
J Inherit Metab Dis. 2010 Dec;33(6):769-74
pubmed: 20683668
Am J Hematol. 2021 May 1;96(5):545-551
pubmed: 33606887
Mol Genet Metab Rep. 2020 Nov 21;25:100678
pubmed: 33294373
J Clin Med. 2022 Aug 31;11(17):
pubmed: 36079085
N Engl J Med. 1991 May 23;324(21):1464-70
pubmed: 2023606
Blood Cells Mol Dis. 2018 Feb;68:153-159
pubmed: 27839979
PLoS One. 2013 Nov 20;8(11):e79732
pubmed: 24278166
BMC Neurol. 2019 Feb 9;19(1):20
pubmed: 30738426
BMJ Open. 2013 Nov 18;3(11):e003620
pubmed: 24247326
Blood Cells Mol Dis. 2013 Feb;50(2):134-7
pubmed: 23085429
Int J Mol Sci. 2022 Feb 08;23(3):
pubmed: 35163813
Lancet. 2000 Apr 29;355(9214):1481-5
pubmed: 10801168
Int J Mol Sci. 2020 Sep 28;21(19):
pubmed: 32998334