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Therapy for lysosomal storage disorders

✍ Scribed by Michael Beck

Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
105 KB
Volume
62
Category
Article
ISSN
1521-6543

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✦ Synopsis

Abstract

In the last years, much progress has been achieved in the field of lysosomal storage disorders. In the past, no specific treatment was available for the affected patients; management mainly consisted of supportive care and treatment of complications. As orphan drug regulations, however, encouraged development of drugs for these disorders by granting marketing exclusivity for 10 years and other commercial benefits, enzyme replacement therapy became available for lysosomal storage disorders, such as Gaucher disease, Fabry disease, mucopolysaccharidoses type I, II, and VI, and Pompe disease. This review will summarize the efficacy and clinical status of hematopoietic stem cell transplantation, enzyme replacement, and substrate deprivation therapy, and describe new therapeutic perspectives currently under preclinical investigations such as chaperone‐mediated therapy, stop‐codon read‐through therapy, and gene therapy. Β© 2009 IUBMB IUBMB Life, 62(1):33–40, 2010

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