Childhood dementia is a little-known but serious public health issue and now researchers at QIMR Berghofer believe a new study has raised hopes of a breakthrough.
Associate Professor Anthony White's team has received a $49,600 grant from the Batten Disease Support and Research Association (BDRSA) of Australia, to find drugs that can halt or slow progression of the neurological disorder.
Batten disease is one of the most common forms of childhood dementia. It causes the progressive deterioration of brain cells and a range of severe symptoms such as a loss of the ability to walk and talk.
"Childhood dementia plays out similarly to adult dementia. It is always fatal and there are very few drug treatments available, so more research is desperately needed to improve outcomes," A/Prof White said.
"At QIMR Berghofer we're working to find drugs that treat Batten disease and other forms of childhood dementia, so we can slow or halt the progression of disease and buy valuable time for these children and their families."
For Queensland mother Jessica Lyons, the research offers hope at a time when her family is faced with a heartbreaking lack of options.
Her happy, cheeky daughter Emily has been diagnosed with one of the rarer forms of Batten disease - CLN6. The eight-year-old is currently the only known case in Australia.
"Before we got Emily's diagnosis, we thought it would just be a matter of finding the issue so she could receive the right treatment and go on to live a reasonably normal life," Ms Lyons said.
"But now we know Emily isn't going to live until she's an adult, she isn't going to go to university or anything like that, and accepting that is really tough. Every week we see she is regressing further, and there's absolutely nothing we can do.
"If researchers could find and stop the regression and buy some more time for kids with Batten disease, that would be amazing. Because at the moment we have no options."
The QIMR Berghofer research project is focused on drug repositioning. This involves identifying existing drugs approved for other conditions, which can be repurposed to treat Batten disease and other childhood dementia disorders.
"There are more than 70 childhood dementia diseases and they're all caused by different genetic mutations, but we think they may share some common genes and proteins to explain their similar symptoms," A/Prof White said.
"If we can identify shared genes and proteins and find existing drugs that target them, we can treat multiple childhood dementia conditions. It could help to slow or halt these diseases while more research is done to target their individual causes."
A/Prof White is chief investigator of the Batten disease research team that includes fellow QIMR Berghofer researchers Professor Eske Derks and Dr Zachary Gerring, who recently led a successful study identifying potential new treatments for Alzheimer's disease.
The study will see Prof Derks and Dr Gerring use computer-based algorithms to analyse the genetics of childhood dementia and identify promising drug repurposing candidates.
A/Prof White will then test the drugs on tiny model brains, to validate the findings and better establish the drugs' impact on Batten disease and childhood dementia.
Dr Ineka Whiteman, Head of Research, Medical and Scientific Affairs at BDSRA Australia, said the association was delighted to support the important work of A/Prof White and his team.
"Their computer-based bioinformatics approach will certainly take Batten disease and childhood dementia research in an exciting direction. This is a relatively novel approach in the Batten disease field and could help make effective, desperately-needed treatments available to patients far sooner," Dr Whiteman said.
"We are intrigued to see what potential new therapeutic candidates they might uncover as the project progresses."
The Childhood Dementia Initiative's Head of Research, Dr Kris Elvidge, expressed hope that A/Prof White's approach would yield results for various childhood dementia disorders.
"Every three days in Australia, a child is born with a childhood dementia disorder. Sadly, the vast majority of these children will not live to see adulthood," Dr Elvidge said.
"This research project is exciting and we look forward to this approach being applied to the many types of childhood dementia to find treatments that give these children longer, more fulfilling lives."
