Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.
Gaucher disease
Glucocerebrosidase
enzyme replacement therapy
gene therapy
neuronopathic
small molecule chaperones
substrate reduction therapy
Journal
Expert opinion on pharmacotherapy
ISSN: 1744-7666
Titre abrégé: Expert Opin Pharmacother
Pays: England
ID NLM: 100897346
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
pubmed:
14
3
2021
medline:
18
8
2021
entrez:
13
3
2021
Statut:
ppublish
Résumé
The past decades have witnessed a remarkable improvement in the health of patients with Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, resulting from the availability of enzyme replacement and substrate reduction therapies. Especially in pediatric populations, early diagnosis and initiation of treatment is essential to achieving optimal outcomes. The authors review the literature pertaining to the effectiveness of currently available therapies and describe new pharmacotherapies under development, especially for young patients. For pediatric patients with non-neuronopathic Gaucher disease, there may be new therapeutic options on the horizon in the form of gene therapy or small molecule glucocerebrosidase chaperones. These have the potential to result in a cure for systemic disease manifestations and/or to reduce the cost and convenience of treatment. For children with neuronopathic Gaucher disease, the challenge of targeting therapy to the central nervous system is being explored through new modalities including brain-targeted gene therapy,
Identifiants
pubmed: 33711910
doi: 10.1080/14656566.2021.1902989
pmc: PMC8373623
mid: NIHMS1687419
doi:
Substances chimiques
Glucosylceramidase
EC 3.2.1.45
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1489-1503Subventions
Organisme : Intramural NIH HHS
ID : Z99 HG999999
Pays : United States
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