A clinical trial testing whether a cancer drug can shrink tumours in children with a common genetic disorder, neurofibromatosis, has received a funding boost from the Federal Government and a family deeply touched by the disorder.
The Petropoulos family through their foundation, Flicker of Hope, has presented MCRI clinical neuropsychologist Dr Johnathon Payne with a cheque for $500,000, to advance research into neurofibromatosis.
At the same time, the Federal Government’s Medical Research Future Fund has awarded $761,000 to TiNT, ANZCHOG’s clinical trial to test if the drug trametinib can help reduce the incidence or severity of brain cancer caused by neurofibromatosis.
The disorder causes tumours to form on nerve tissue, including on the brain, spinal cord and nerves. It affects around 1 in 2500 people worldwide, with about 10,000 Australians currently living with the condition.
As well as tumours, the mutated pathway in neurofibromatosis often gives rise to neurodevelopmental disorders and delayed or impaired development. Around 40 per cent of affected children have ADHD, one quarter have autism spectrum disorder and up to half have learning difficulties like dyslexia.
In a bid to help halt the disorder’s run in their family, Anne and Zoe Petropoulos started the Flicker of Hope Foundation to raise neurofibromatosis research funds. The foundation has so far raised half a million dollars to help Dr Payne and his team investigate the neurodevelopmental disorders commonly associated with the disease.
Zoe was diagnosed with neurofibromatosis at just three months old. As well as Zoe, four generations of the Petropoulos’ extended family have been affected with a NF1 diagnosis.
Neurofibromatosis can vary wildly in its severity, but people only need one mutated copy of NF1 to inherit the disease in some form. People with an affected parent have a 50 per chance of inheriting the mutation. With two affected parents, that risk increases to 75 per cent.
“I started Flicker of Hope with my mum, to raise awareness of the condition and drive fundraising for research,” Zoe said.
“There just wasn’t much work being done, and it’s incredible to see how fast scientists can make progress when they have some decent support behind them.”