FORMULATIONS Jun 2010.indd

Copyright © 2010 Frederick Furness Publishing 16 A focus on enzyme replacement therapies (ERT) for lysosomal storage diseases has led Shire Human Genetic Therapies, Inc (Shire HGT) to develop products for treating Fabry disease, Hunter syndrome, and type 1 Gaucher disease. These products are administered intravenously (IV) and are effective in treating the somatic symptoms of the disease. Developing ERT for diseases involving the CNS is a challenge because IV administered enzyme does not adequately cross the bloodbrain barrier (BBB) at a level needed for therapeutic effect. Moreover, formulations that are suitable for CNS administration are limited, posing a major challenge in generating stable products of adequate concentration. By developing new methods and formulations to deliver enzymes to the CNS, Shire HGT is at the forefront of developing ERT for treating lysosomal storage diseases with CNS involvement. ERT for CNS symptoms in Hunter syndrome and Sanfilippo A syndrome are in Phase I clinical development, and efforts are ongoing in preclinical development for metachromatic leukodystrophy and globoid cell leukodystrophy.