Other forms of treatment that are currently being researched include:
Gene therapy, which aims to replace the defective gene with a functional one. The principle is that the functional gene will code for the normal production of the enzyme, replicate within the cells of the body (and brain) and produce sufficient amounts of enzyme to remove stored mucopolysaccharide and prevent further storage. Unlike ERT, which requires repeated administration, it is hoped that gene therapy will be a once-off treatment.
Substrate deprivation/reduction therapy: this form of treatment aims to reduce the amount of mucopolysaccharide that is being made by the body, leading to a reduction in the amount being stored.
Chaperone therapy uses chemicals to protect and activate any enzyme that may be present in the lysosome, so as to increase its activity and ability to break down mucopolysaccharides and thereby reduce the amount being stored.
As a general rule, both substrate deprivation/reduction therapy and chaperone therapy will only work in those individuals whose mutations allow some active enzyme to be made by the body. Chaperone therapy is usually specific to the individual mutations.
For current information about clinical trials that are recruiting or underway, visit www.clinicaltrials.gov.
In common with all of the MPS disorders, treatment and management for MPS II continue to evolve so the information presented here will change with time. It is important to keep up a regular dialogue with your medical team. Regular monitoring is an important way of managing problems before they become potentially serious, and minimise the effects of the disorder on quality of life. Living with a progressive disorder such as MPS II can be difficult and challenging so this monitoring can also be a way to share some of that difficulty. As knowledge is built up and shared, new treatments can be developed and quality of life improved for all..