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Parents of boys with a rare genetic disorder that will kill them before they reach 30 are heading to the US to help win approval for a drug developed at Great Ormond Street Hospital.

The six families include parents of eight-year-olds Eli Crossley, from London, and of Wigan boy Jack Johnson, (pictured together below), whose case has been championed by England rugby star Owen Farrell.

Eli Crossley and Jack Johnson

The US Food and Drug Administration is considering whether to grant accelerated approval for a trial drug, Eteplirsen, which has been found to slow the devastating muscle-wasting effects of Duchenne muscular dystrophy in a small number of cases.

Eli’s mother Emily Crossley, a former Channel 4 and CNN TV journalist from Chiswick, told the Standard: “We are in a race against time. Once boys stop walking, it then becomes a terrifying, rapid decline. When they should be enjoying the time of their lives, their bodies are dying on them.”

DMD affects one in 3,500 boys and is the most common genetic killer of children. Eteplirsen was developed in the UK and the first patient to receive it did so at GOSH.
Trials by the US drugs firm Sarepta on 12 boys with one type of the disease showed that the drug enabled them to continue to walk. However, FDA papers indicate concerns at approving a drug tested on so few patients.

Duchenne muscular dystrophy is associated with errors in the dystrophin gene, which plays a key structural role in muscle fibre function. It affects boys almost exclusively.

Normally patients require a wheelchair by age 10 to 12 and lose all muscle function in their early twenties, leading to fatal damage to the heart and lungs. Death usually occurs before the age of 30.

The FDA evidence session on April 25 in Washington will hear from Mrs Crossley and Alex Johnson, mother of Jack. His condition lead to England fly-half Farrell interlinking his fingers in the JJ (Joining Jack) salute after scoring points. Farrell’s father Andy used to play rugby league with Jack’s father Andy.

Mrs Crossley said: “This is not a cure but is a treatment which, on these 12 boys, has shown a slow-down in disease progression. Twelve boys is not a very robust data sample, but Congress has the power to give patients the right to try.

“This won’t directly help my son, but they [Sarepta] have a number of follow-up compounds that could potentially help up to 80 per cent of boys. This is a pivotal moment.”

It will be their second attempt to address the committee. A previous meeting in January was cancelled after they had landed in the US, due to a snow blizzard that hit the eastern side of the country.

Mrs Crossley and husband Nick founded the charity Duchenne Children’s Trust, which has raised £3.5 million in three years. Its “End Duchenne in 10” campaign seeks to find a cure in the next decade.

The charity’s annual Duchenne Dash fundraising cycle ride from London to Paris in May will this year be led by Channel 4 presenter Jon Snow.

They also hope that advances pioneered at GOSH to use “molecular scissors” to “edit” faulty genes could provide an alternative way forward.

This technique was used last year on leukaemia patient Layla Richards and is thought to have cured her of the blood cancer.