Race against time for George as gene therapy offers lifeline

Families with children with rare diseases are pinning their hopes on gene therapy as parliamentarians push for fast-tracking of clinical trails.

Kathy and Glenn Stalley at home in Sydney with Eve and George, who has the rare disease Duchenne Muscular Dystrophy. Picture: John Feder

Little George Stalley is in a race against time. The four-year old has the rare disease Duchenne Muscular Dystrophy, and by the time he is 11 it is likely he will no longer be able to walk.

It’s the cruellest of blows for doting parents Kathy and Glenn Stalley, who were stunned when they were told their little boy was affected by a rare gene defect.

“In a split second you lose the life you envisaged,” Ms Stalley says. “You’re looking at this perfect child. You never, ever think this is going to happen to you.

“He is just the funniest little boy. He loves ghosts and monsters, he loves to dance, to dress up with his sister. I would prefer to have him with Duchenne than to not have him at all but we are on the lookout for the slow decline.”

Four-year-old George Stalley has been diagnosed with Duchenne Muscular Dystrophy.

Duchenne is characterised by progressive muscle degeneration and weakness due to a defective gene on the X chromosome associated with a protein called dystrophin, which plays a crucial role in keeping muscle cells intact.

By late primary school age, children are often in a wheelchair. In the later stage, heart and respiratory muscles are affected, eventually causing respiratory failure.

Life expectancy previously was about 18 years but is now on average 30 years because of advances in steroid treatments. The disease primarily affects boys.

Most people would never know George is affected. He struggles to run and jump but is otherwise a perfect little boy. And now gene therapy offers a new glimmer of hope. The Stalleys are desperately hoping they will be able to access a clinical trial in time to stall progression of their son’s disease before he deteriorates too much.

George was a ‘perfect baby’ and his parents initially had no inkling at all that anything was wrong.

“It’s everything, it’s our only hope,” says Ms Stalley.

Gene therapies are on the verge of being able to offer a lifeline for some rare diseases that have never had treatment options, with a pioneering clinical trial being run out of the Sydney Children’s Hospital Network testing a gene replacement therapy remedy on four-year-old children with Duchenne.

“The type of gene therapy we’re talking about is sometimes called gene transfer or gene replacement therapy,” says Kristi Jones, a University of Sydney professor and clinical geneticist at The Children’s Hospital at Westmead Clinical School. “You replace the faulty gene with a new gene carried into the body using a viral vector.

“It’s given as a single dose and is carried into the cells of the boy with muscular dystrophy and, remarkably, releases the gene, which then creates or makes a new protein that can do the job of the faulty gene that the boy was born with.”

There are calls for the health system to urgently adapt so gene therapy can be made available to as many children as possible.

George is so far largely unaffected by Duchenne Muscular Dystrophy but without immediate access to gene therapy, his parents are on the lookout for the inevitable ‘slow decline’.
Photo: Supplied

“I don’t think our health system has been prepared for the coming avalanche of gene technologies and therapies,” says Labor backbencher Mike Freelander, a paediatrician who will chair a Parliamentary Friends of Medicine special event in Canberra next week on gene therapy. “The fact these kids have some hope now is unbelievable but we don’t have enough geneticists, enough genetic counsellors.”

Michael Simpson, founder of Duchenne Australia, agrees. “With Duchenne we say time is muscle. Time is our biggest enemy. They can sit around and debate about this condition but in one short year these children can lose a hell of a lot. The decline is like falling off a cliff for these kids,” says Mr Simpson, whose 11-year-old son has the disease.

Ms Stalley says an opportunity for George to access gene therapy would mean everything: “It could offer us more time, more good time. It’s our only hope, currently.”