Journal
CURRENT OPINION IN PEDIATRICS
Volume 23, Issue 6, Pages 588-593Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOP.0b013e32834c20d9
Keywords
enzyme replacement therapy; lysosomal storage disorders
Categories
Funding
- Department of Health's NIHR Biomedical Research Centre
- Genzyme
- Shire
- Actelion
Ask authors/readers for more resources
Purpose of review Enzyme replacement therapy (ERT) for type 1 Gaucher has been highly successful. ERT is now available for other lysosomal storage disorders (LSDs) but none of these highly expensive treatments has had the same efficacy. This review explores why these newer treatments have failed to live up to expectations and how future products might be made more effective. Recent findings In Gaucher, the target cells for ERT are macrophages, which are efficiently accessed by intravenously injected recombinant enzyme. The target tissues in other LSDs receive much lower doses of enzyme and intravenous ERT does not enter the brain at all. Uptake of recombinant enzyme is via the mannose-6-phosphate receptor (M6PR). Recent work has looked at improving the efficiency of enzyme delivery to tissues by altering both the ligand on the infused enzyme and the expression of the M6PR on cells. For delivery to the central nervous system, intrathecal routes of administration have been explored. Summary Work in tissue culture and in animal models has shown increased efficiency of enzyme delivery and clinical trials of second-generation products and novel delivery systems are now underway.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available