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Current Research

Although MPS I can be treated, there is currently no cure. Research is underway to find more treatments for MPS I, and, we hope, some day, a cure. Here are some promising new research areas:

Gene therapy: Gene therapy involves introducing to the body a healthy gene capable of producing active enzyme. The main issue with gene therapy is how to deliver the gene to multiple cells and cell types. Strategies being explored for the lysosomal storage disorders include use of viral vectors and transposon systems. In MPS I, gene therapy is currently in the preclinical stage and has been tested in dogs.[1]

Enzyme therapy: Researchers are now investigating ways of getting enzyme therapy to reach the tissues in the brain. Research in dogs suggests that intrathecal enzyme injections (injection of enzyme into the spinal fluid) may help increase enzyme levels in the brain, spinal cord, and membranes surrounding the spinal cord (meninges). In dogs, this led to improved motor function and less lysosomal storage around the meninges.[2] Enzyme therapy has not been evaluated for effects of the central nervous system in humans.

Substrate deprivation: MPS I is caused by insufficient levels of α-L-iduronidase, the enzyme needed to break down GAG, leading to GAG buildup in the body. Substrate deprivation is a potential treatment method that works by slowing down the production of GAG in order to reduce the rate at which they build up in lysosomes. So far, this treatment has not been tested for people with MPS I.[3] 

References:

  1. Aronovitch E, Bell J, Belur L, et al. Prolonged expression of a lysosomal enzyme in mouse liver after Sleeping Beauty transposon-mediated gene delivery: implications for non-viral gene therapy of mucopolysaccharidoses. Journal of Gene Medicine 2007;9:403.
  2. Kakkis E, McEntee M, Vogler C, Le S, Levy B, Belichenko P, Mobley W, Dickson P, Hanson S, Passage M. Intrathecal enzyme replacement therapy reduces lysosomal storage in the brain and meninges of the canine model of MPS I. Mol Genet Metab. 2004 Sep-Oct;83(1-2): pp 163-74.
  3. Nishimura Y, Esko JD. Substrate deprivation therapy for MPS: Iminosugar inhibitors of sulfotransferase. Available at: http://www.mpssociety.org/content/4046/2001/. Accessed August 8, 2006, pp 3-4.