Alternative Treatment Options: Enzyme Replacement and Small Molecule Therapies

  • Simon Jones
Part of the Stem Cell Biology and Regenerative Medicine book series (STEMCELL)


The spectacular clinical and financial success of Cerezyme® (Imiglucerase, Genzyme) for the treatment of Gaucher disease has led to the development of similar therapies for other lysosomal storage disorders (LSDs). Fabry disease, mucopolysaccharidoses I, II, VI and Pompe disease all have licensed enzyme replacement therapies (ERT) and many more enzymes are various stages of clinical development. Like all medical treatments this approach has some limitations. Not all patients are suitable for treatment, some organs or tissues are more amenable to correction and there are problems gauging efficacy in this group of highly variable disorders. The burden of weekly or fortnightly infusions, the development of antibodies to the recombinant proteins and the relative impermeability of the central nervous system to intravenous ERT has stimulated the development of alternative therapies using oral small molecules acting as either inhibitors of substrate accumulation or as chaperones to misfolded proteins. With this approach it is hoped that CNS disease can be corrected or prevented and at the same time the burden of therapy reduced. So far the only small molecule product that has gained marketing approval is Zavesca® (Miglustat, Actelion) which is approved in the USA and EU for the treatment of Gaucher disease in those patients unsuitable for ERT and is also approved in the EU for the treatment of progressive neurological abnormalities in adults and children with Niemann–Pick disease type C.


Enzyme Replacement Therapy Fabry Disease Gauche Disease Pompe Disease Agalsidase Beta 
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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Simon Jones
    • 1
  1. 1.Department of Genetic MedicineSt. Mary’s HospitalManchesterUK

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