Muscle-wasting diseases

Our researchers have recently found new ways to slow down untreatable degenerative diseases.

What if they could silence the faulty part of the genes that cause them – for good?

Ten-year-old Jake, who has Duchenne muscular dystrophy (DMD), is taking part in a pioneering clinical trial.

The situation today

Muscle-wasting diseases like Duchenne muscular dystrophy can cause progressive paralysis and brain damage. Sadly, many can reduce a child’s life expectancy down to their twenties. Great Ormond Street Hospital (GOSH) sees more than 1,600 patients like Jake with muscle-wasting diseases every year.

“We knew something was wrong when he wasn’t hitting his milestones,” says Jake's Dad Carl. “He had trouble crawling and walking. Then, when he was four, and after numerous tests, the doctors told us it was DMD. We were devastated, but we made the decision that we would travel to the ends of the Earth for anything that helps him.”

As little as five years ago, there were no treatments available for many of these rare conditions. But, thanks to research, that’s beginning to change and children like Jake now have hope for new and better therapies.

Jake’s parents Carl and Rachel learned that Paediatric Neurologist Professor Francesco Muntoni, who has spent most of his research career developing new targeted therapies for DMD, was conducting a new clinical trial. Professor Muntoni is working on a new drug that targets a part of the dystrophin gene which affects about one in ten children with DMD.

How we’ll help shape the future

By funding research into molecules that switch off the faulty part of a gene, we’ll speed up the development of a new generation of life-changing treatments to help these children regain muscle strength. For the first time, our researchers are developing these pioneering techniques so that they target brain and muscle deterioration simultaneously.

Just how active he is now is obvious from the way Jake runs around the treatment room. He also loves playing on his bike and scooter in his garden at home. “The longer we can keep him out of a wheelchair, the better,” Carl says. “We’re under no illusion that it’s going to be a miracle cure – we’re just happy to see small improvements.”

Jake’s trial is coming to an end, at which point Professor Muntoni and his team will analyse the results. “I think that there’s going to be a lot of positives from it. I believe the longer Jake has treatment, the more beneficial it will be,” Carl says. “In the meantime, if something new comes along, or a different delivery of the treatment, we’d be happy to be involved.”