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17 Dec 2013

Researchers have developed a promising new treatment for people with severe disabilities caused by a rare enzyme deficiency.

South Australian scientists have developed a technique that could provide an effective treatment for Hurler’s syndrome, an unusual condition affecting around one in 100,000 Australians, and whose symptoms include severe mental and physical disabilities. Those with the condition often die in their early teens.

The disease is caused by a single defective enzyme that is essential for breaking down complex sugars in cells.

University of Adelaide researchers have developed a technique to make adult stem cells produce excess amounts of the deficient enzyme which, they can then use to replace the cells that aren’t working properly in people with Hurler’s syndrome.

Lead researcher Matilda Jackson said the research had found how to turn adult stem cells into mini-enzyme factories by coupling them with a virus that makes them pump out high levels of the enzyme.

“Those stem cells can then be injected into the blood, where they move around the body and become liver, bone, brain or other cells that start producing the missing enzyme,” Ms Jackson said. “They automatically migrate to the areas of damage in the affected individual.”

So far, the researchers have been able to measure improvements in brain function, but have yet to complete the analysis to determine if there have been improvements in other organs.

Dr Sharon Byers, who has been supervising the study, said there were currently only two treatments for Hurler’s syndrome – costly enzyme replacement therapy or bone marrow transplants, which require a perfectly matched donor. She said while the treatments brought some improvement, neither prevented damage to the brain and bones because not enough of the enzyme reached either of these tissues.

“These stem cells, modified so they produce large quantities of the enzyme that people with Hurler’s disease syndrome lack, offer great hope for a potential new therapy,” Dr Byers said. “If we can help reverse the disease symptoms, we could see these children able to perform normal tasks, giving them a better quality of life and increasing their life span.”

Kirsty Waterford




Published: 17 Dec 2013