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Pharmacotherapy of Pompe disease
- Source :
- Expert Opinion on Orphan Drugs. 1:457-471
- Publication Year :
- 2013
- Publisher :
- Informa Healthcare, 2013.
-
Abstract
- Introduction: Pompe disease (PD) is a metabolic myopathy caused by the deficiency of acid alfa-glycosidase (GAA). Several therapeutic approaches have been proposed to treat this disorder. These include enzyme replacement therapy (ERT) with recombinant human GAA (the only approved treatment for PD), small molecule-based therapies, gene therapy, substrate reduction, and approaches directed toward the manipulation of secondarily affected cellular pathways. Areas covered: The efficacy of ERT, the potential for clinical translation of the other approaches listed previously, and the advantages and the limitations of each of them are evaluated in this review. Expert opinion: Each of the therapeutic approaches shows advantages and limitations. ERT was successful in treating cardiac involvement, but has limited distribution to target tissues, requires life-long repeated infusions, and is highly expensive. Pharmacological chaperone therapy has advantages compared with ERT in terms of biodistribution and oral intake...
- Subjects :
- congenital, hereditary, and neonatal diseases and abnormalities
business.industry
Health Policy
Genetic enhancement
Cellular pathways
nutritional and metabolic diseases
Metabolic myopathy
Disease
Enzyme replacement therapy
Pharmacology
medicine.disease
Bioinformatics
Pharmacological chaperone
Pharmacotherapy
medicine
Distribution (pharmacology)
Pharmacology (medical)
business
Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
medicine.drug
Subjects
Details
- ISSN :
- 21678707
- Volume :
- 1
- Database :
- OpenAIRE
- Journal :
- Expert Opinion on Orphan Drugs
- Accession number :
- edsair.doi...........6127a4bb7c81ac1a248db50ecb7bd4cb