Investigational Therapies

Gene Therapy

Like ERT and HSCT, gene therapy could be another way of correcting the enzyme deficiency in MPS. Experimentation with this approach is still in the very early stages—and unlike enzyme replacement therapy (ERT), gene therapy has not yet been used to successfully treat any lysosomal storage disorder.

The idea behind gene therapy is simple. People with MPS VI are deficient in the ASB enzyme because they have 2 non-working copies of the gene that encodes this enzyme. The goal of gene therapy is to give them a new, working copy of that gene—or at least give some of the cells in their body a new copy of the gene, so that those cells will produce the enzyme, and their body will then have its own source of the enzyme.

Gene therapy is still in the very early stages of development. It will be some time before the approach is attempted, even experimentally, in humans.