“I hope the results of this project will lead to a safe, widely available drug treatment for childhood dementia caused by Sanfilippo syndrome, along with further breakthroughs for other types of childhood dementia,” says Dr Mubarokah.
“As a genetic disorder, currently childhood dementia can’t be cured, but if we are able to provide early intervention through drug treatments, the impacts of dementia can be slowed and children will enjoy a better quality of life.” Dr Siti Mubarokah
In a world-first that helped her reach this discovery, Dr Mubarokah has created a new cell model, using direct chemical reprogramming, to turn a Sanfilippo patient’s skin cells into nervous system cells. The cell model is then used to test and identify a range of potential drug treatment options for those with the disease.
“This new cell model, to our knowledge, has not been utilised by any other researchers in the childhood dementia field,” says Dr Mubarokah.
“The chemical reprogramming of the cells only takes around two weeks for each patient, making it an excellent model for swiftly identifying new treatments for Sanfilippo syndrome, which could otherwise take years – a timeframe that sufferers simply don’t have.
“I am very excited by this finding, especially as the drug family used in the successful trial is already being utilised for a different disease, so its safety profile is well known and understood,” says Dr Mubarokah.
“It’s good news as repurposing approved drugs could fast track treatments for Sanfilippo patients across the world – and it’s the cheapest and most accessible option.”
This study forms part of an extensive program in childhood dementia research at Flinders University. Led by Professor Kim Hemsley, the research group interacts closely with patients and families.
“Our research is driven by a commitment to improve the lives of children affected by dementia, and their families,” says Professor Hemsley.
“The generous support from the Little Heroes Foundation has provided the whole team with great motivation and purpose, and we expect the findings may also be applied to other forms of childhood dementia.”
Chris McDermott, Chair of Little Heroes Foundation, says support for Dr Mubarokah’s research is an important part of the Foundation’s ongoing commitment to address childhood dementia, which currently affects an estimated 700,000 children.
“Childhood dementia is a devastating condition that causes children to progressively lose the ability to write, read, talk, walk and play – before dying prematurely.” Chris McDermott
“Little Heroes Foundation is pleased to partner with Flinders University to support the innovative work of Dr Siti Mubarokah, as we work towards our goal of improving the lives of the children with this destructive disease.”
Dr Mubarokah is especially grateful for the support.
“The funding from Little Heroes has been vital to my research, and means finding a treatment for childhood dementia has become more achievable,” says Dr Mubarokah.
“The support has also provided me with a sense of fulfilment, responsibility and purpose, knowing that the research has the potential to improve the lives of affected children and their families.”
But she says more funding is needed to progress the recent discovery to a clinical trial of the drug with patients who have Sanfilippo syndrome.
“We need more funding to continue this work to the next stage so that we can get the drug treatments approved and help those currently suffering.” Dr Siti Mubarokah
“The clock is ticking for children with childhood dementia, and prompt action is urgently required.”
