Wesley Medical Research launches world-first trial to treat rare genetic disorder in children

Researchers in Brisbane will lead a world-first trial to give hope to children suffering with a devastating degenerative disease.

A world-first clinical trial in Brisbane offers hope to children living with an incurable degenerative disease, which can leave sufferers in a wheelchair by 10, struggling to breathe by 15 and to likely die of cancer in their 20s.

Queensland’s Wesley Medical Research has started the trial with 40 children from around Australia who have the rare genetic disorder Ataxia-Telangiectasia (A-T) — children like four-year-old Goldie Digby.

“This trial has given us and all the families impacted the hope we have been praying for,” Goldie’s mum, Christina, said.

“It is our wish that Goldie lives the life she truly deserves.”

Cristina Digby with her four-year-old daughter Goldie, who suffers from the rare genetic disorder Ataxia-Telangiectasia (A-T).

The trial is funded through $2.46 million secured from the Australian Government’s Medical Research Future Fund and kicked off on Wednesday by Federal Health Minister Greg Hunt at the Wesley Hospital.

Wesley Medical Research chief executive Dr Claudia Giurgiuman said, if successful, the resulting treatment for A-T could be cost effective and without side effects.

She said the outcomes could be life-changing for the 40 Australian children with A-T, their families, and carers.

“Children with A-T suffer a rare genetic disorder that will leave them wheelchair-bound by the age of 10, struggling to breathe by the time they’re 15 and likely to die of cancer by the age of 25.”

Wesley Medical Researcher and lead investigator, Professor David Coman, explained that the symptoms of A-T are like “the worst parts of cerebral palsy, muscular dystrophy and cystic fibrosis combined, with children also at a higher risk of cancer and lung disease”.

He said research had already provided evidence that A-T was partly a “mitochondrial disease” and that all aspects of the mitochondrial defect could be corrected by the “liquid fat” in A-T cells in the laboratory.

“Those research findings are just about to be turned into a real medical treatment and the outcome of that work can provide new hope to families,” Professor Coman said.

Professor Coman said the liquid fat supplement “plugged into the mitochondria” to kickstart the cells and stop them from dying under stress.

Past research had also found a reduction in how calcium gets through to the mitochondria, which contributes to how the disease progresses.

Originally published as Wesley Medical Research launches world-first trial to treat rare genetic disorder in children