“Until recently, rheumatologists did not have storage diseases on their differential diagnostic menu because the diseases were rare and not treatable,” said Dr. Bernhard Manger of the University of Erlangen-Nuremberg, Germany. “Now there is no excuse. … There are treatments.”
Enzyme replacement therapy via intravenous injection of recombinant proteins is the most common, Dr. Wraith said. The intravenous infusion of recombinant proteins effectively slows disease progression; thus, optimal efficacy requires early intervention, he said. The treatment is not a cure, however, and must be continued for life.
Other strategies include substrate reduction therapy and chemical chaperone therapy, which involve the application of small molecules that either inhibit the enzyme responsible for substrate synthesis or act as a chaperone to increase the residual activity of the lysosomal enzyme, said Dr. Michael Beck of the University of Mainz (Germany). In addition, “various in vivo and ex vivo gene therapeutic techniques have been developed, but are not yet available,” he said. “[These] administer the gene that is defective in a patient to the bloodstream or directly to the brain in order to overcome the blood-brain barrier.”