Author(s): Grabowski GA
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Abstract BACKGROUND: The therapy of the lysosomal storage diseases (LSDs) was developed by supplying adequate amounts of the needed enzyme to affected individuals. This approach in Gaucher disease provided a prototype for the basic and clinical sciences, and the economic foundation for other ultra-orphan diseases. OBJECTIVE: Using the success of enzyme therapy for Gaucher disease, the challenges are highlighted for alternative bioproduction systems, and substrate reduction and molecular chaperone approaches for treatment of Gaucher disease and other ultra-orphan diseases. METHODS: Literature review provided insight into the current status of enzyme therapies for LSDs, the proposed mechanisms of alternative approaches to therapy, and the obstacles in a competitive marketplace for treatment of ultra-rare diseases. RESULTS/CONCLUSIONS: These developments are placed in the contexts of finding rare patients with LSDs, their marked phenotypic spectrum, potential markets, and new orphan drug costs. The confluence of these challenges has led to a competitive environment with the potential for multiple, alternative, expensive treatments for orphan diseases.
This article was published in Expert Opin Emerg Drugs
and referenced in Journal of Glycomics & Lipidomics