Duchenne muscular dystrophy: Push for Australian trials of homegrown drug – ABC Online

Posted April 26, 2017 19:43:27

A US teenager who can walk because of a drug created in WA has joined a campaign for human trials to be run in Australia.

Two researchers from Perth's Murdoch University created the drug that has kept 16-year-old Billy Ellsworth, from Pennsylvania, on his feet but the drug is not yet available to Australian families.

Billy has Duchenne muscular dystrophy, a rare and fatal genetic disease, which eventually wastes every muscle in the body.

It affects one in 3,500 children, mostly boys, and leaves most wheelchair bound by the age of 12. Many people with the condition do not live past 25.

"It's good, it feels good to be walking for this long and I'm glad I can," Billy said.

The teenager has been one of 12 boys in the United States on a six-year trial of Exondys 51, a drug created by two researchers in WA.

The drug targets a specific group of gene mutations which causes the fatal disease rendering it effective in slowing down muscle wasting in about 10 per cent of people with the condition.

Terri Ellsworth said what it had done for her son had left her, at times, speechless.

"I'm more reserved so I hesitated for the first year calling it a miracle, but now I call him my walking miracle," she said.

"It's a miracle drug, it really is, because he graduates from high school in two years and if he stays on this course I'll see him walking across the stage getting his diploma.

"Ten years ago I never would have thought that possible, knowing the natural history of this disease."

Exondys 51 was developed by professors Sue Fletcher and Steve Wilton, born from an idea they had when working at the University of Western Australia.

"Steve formulated an idea as to how to trick the cell to skip over the disease, causing mutation in the dystrophin gene that caused muscular dystrophy," Professor Fletcher said.

Twenty five years later that idea was turned into a reality.

"We've taken huge amount of comfort and support from having both the local families and Muscular Dystrophy WA believe in us when really nobody else did," Professor Fletcher said.

Both scientists also work at the Perron Institute for Neurological and Translational Science and are working hard to have the drug which was given accelerated approval by the FDA in the United States last year - approval to be sold commercially.

"It's been really difficult for both of us looking our local families in the eye when they know we have a drug that could treat their child and it's not available here," Professor Fletcher said.

They said patent issues, commercial limitations and securing the funding and environment for a clinical trial in Australia were all slowing down the process.

Muscular Dystrophy WA chief executive Hayley Lethlean said there were about 100 people in WA with the condition - and an estimated 800 across the nation.

"For us the biggest thing is that we can one day have the drug available in WA and across Australia," she said.

"We hope that having Billy here will be seen as a positive example.

"We need to lobby and advocate for this because we can't have the scientist behind the drugs in Perth but not the drug itself."

All involved are hopeful trials of Exondys 51 - and other forms of the therapy - will be underway in Australia soon.

Topics: diseases-and-disorders, health, wa

Read the rest here:
Duchenne muscular dystrophy: Push for Australian trials of homegrown drug - ABC Online