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Clinical experience with substrate reduction therapy.
MedLine Citation:
PMID:  17011470     Owner:  NLM     Status:  In-Data-Review    
The introduction of substrate reduction therapy (SRT) using miglustat (Zavesca(R)) gives physicians and patients a choice of treatment options for type 1 Gaucher's disease. Enzyme replacement therapy (ERT) has proven a successful approach to treating the haematologic abnormalities and organomegaly. However, long-term complications such as skeletal disease and subtle abnormalities in the nervous system do not respond as well, if at all, to ERT. The basic concept behind ERT is acceleration of the degradation of accumulated cerebroside. In contrast, SRT prevents the accumulation of glucocerebroside by inhibiting the enzyme responsible for its synthesis. We have used the European Working Group on Gaucher's disease guidelines as a basis for switching patients, all of whom had previously been treated with ERT, to miglustat. Our initial experience with our cohort of six patients with type I Gaucher's disease indicates that oral miglustat provides an effective alternative for patients unsuitable for ERT. The successful use of enzyme replacement therapy over the past decade has completely changed the outlook for patients with Gaucher's disease in the developed world such that for most adults, treatment successfully improves the organomegaly and blood counts. However, intravenous therapy is not suitable for all patients. In addition, it is clear that enzyme replacement therapy does not reverse all of the pathology of adult Gaucher's disease. Future challenges include improving therapy, offering patients choice, improving our understanding of the pathophysiology and making treatment available worldwide.
Atul Mehta
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of internal medicine     Volume:  17 Suppl     ISSN:  0953-6205     ISO Abbreviation:  Eur. J. Intern. Med.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-10-02     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9003220     Medline TA:  Eur J Intern Med     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  S13-5     Citation Subset:  -    
Royal Free and University College Medical School, London, UK.
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