Dr Adeline Lau (pictured), who is working alongside Flinders’ childhood dementia research expert Professor Kim Hemsley has grown cells made from young patients with Sanfilippo syndrome. 

Thanks to the support of a Flinders Foundation Health Seed Grant, the cultured cells are then treated with different mixtures of enzymes and helper drugs to see which combination is the most effective at improving the disease.

“Sadly, there is presently no approved therapy for children with Sanfilippo syndrome, with patients generally only living until their mid-to-late teenage years,” Dr Lau explains.

“A potential treatment option is ‘enzyme replacement therapy’ which delivers artificially-produced enzyme to the patients, either through their blood or directly into the cerebrospinal fluid that surrounds the brain using a special port – however, getting enough enzyme to the brain has been difficult so far.

“If our ‘helper drugs’ make the enzyme replacement treatment work more efficiently, then patients may show improved health outcomes.”

‘Helper drugs’ - or pharmacological chaperones as they’re technically known - are designed to attach to misfolded or misshapen proteins which occur in some genetic diseases to help them fold into the right shape.

When effective, this can improve the function of these proteins and potentially treat the underlying health problem caused by the misfolded proteins.

“Our collaborator Professor Vito Ferro and his colleagues from the University of Queensland, have designed and synthesised a panel of possible helper chaperone drugs and we have been testing these drugs here at Flinders to find out which ones work best on cells affected by the disease,” Dr Lau explains.

“Now, with the support of the Flinders Foundation, we're evaluating which combination mix and dose of helper drugs and artificially made enzyme, gives the best treatment results.

“Ultimately, we would like to develop safe and effective therapies for all Sanfilippo patients, because there is presently no approved treatment or cure and so the affected children progressively lose their cognitive skills, ability to speak and walk amongst many other symptoms.”

The treatments that show the most potential in the Sanfilippo patient cells grown in the laboratory will undergo further evaluation and testing in additional Sanfilippo models to establish whether they improve the disease.