Groundbreaking new treatment for Jake

With his teddy Wilber in hand, nine-year-old Jake travels to Great Ormond Street Hospital (GOSH) every week for groundbreaking new treatment for Duchenne muscular dystrophy (DMD).

Jake’s parents, Carl and Rachel, became aware of Jake’s condition when he was a very young age. “We knew something was wrong when he wasn’t hitting his milestones,” says Carl. “He had trouble crawling and walking. Then, at about four years old 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.” 

What is DMD?

Children with DMD are unable to produce dystrophin, a protein needed to build up muscles. The condition starts in early childhood in boys (and in very rare cases it affects girls), initially causing difficulties in standing up, climbing or running, progressing to a stage that forces most children to use a wheelchair by the time they hit their teens.

DMD is the most common lethal form of muscle-wasting disease, affecting about one in every 3,500 – 5,000 boys in the UK. Sadly, the majority of patients with DMD do not live past their late twenties or early thirties. But the work of neurology and research teams at GOSH is giving new hope to families affected by the disease.

Pioneering research

Paediatric Neurologist Professor Francesco Muntoni has spent the majority of his research career studying and developing new targeted therapies for DMD, one of which is currently being investigated in a clinical trial at the hospital. 

Professor Muntoni began working on a new drug that targets a part of the dystrophin gene which affects about 10 per cent of children with DMD. "This study is still ongoing,” he says. “We have now finished the first year of treatment and are about to enter the second year of the study. In addition to looking at whether the drug makes the muscle cells produce dystrophin again, we are also measuring the clinical improvements. Improvements in technology mean that we can now use less invasive ways to look at the response of the drug, such as muscle MRI, as well as other functional tests that we have developed. It's really important to minimise invasive testing and apply kinder and gentler techniques to children to test whether the drug is working."

Taking part in the trial

Jake’s family learned about Professor Muntoni’s clinical trial through their local hospital and met with him to discuss the study in detail. “Right from our first meeting, Professor Muntoni was great,” says Carl. “He showed us a video and explained what the trial involved and what sort of expectation they had of how it would work. We wouldn’t have gone on the trial unless we thought that there would be some improvement or some benefit to Jake. In the past 12 months that we’ve been on the trial, I’ve noticed an improvement in him. He’s very active.”

Jake’s trial is coming to an end, at which point Professor Muntoni and his team will analyse the results, but the family will continue receiving this treatment and have high hopes for the future. “When the data has been collated and the report has been put out, I’m looking forward to reading it,” says Carl. “I think that there’s going to be a lot of positives from it. Our plan is to carry on and keep coming down to the hospital, because I believe the longer Jake has treatment, the more beneficial it will be in the long run. 

“In the meantime, if something new comes along, or a different delivery of the treatment, we’d be happy to be involved,” he adds.

The importance of research

“I like playing on my bike and my scooter in the garden. And playing football with friends too,” says Jake.

As Jake runs around energetically in the treatment room, Carl reflects on how important the research is to maintaining an active childhood: “Luckily, Jake is at the right age for this research. He’s not using a wheelchair. He was 10 at Christmas and he seems very good, so the longer we can keep him out of a wheelchair, the better. We’re under no illusion that it’s going to be a miracle cure – we’re just happy to see small improvements.”

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