Drug trial offers hope for brittle bone children

[Alison J Stevens]

Drug trial offers hope for brittle bone children

By Jane Elliott Health reporter, BBC News

A 3D scan in the womb can often lead to an early diagnosis

Luke Hall was still in the womb when he had his first fracture – by the time he was a teenager he had more than 40.

Luke, from Leeds, has the brittle bone disease osteogenesis imperfecta (OI) and was diagnosed when his mother Dorothy was three months pregnant.

She said: “When I went for my first scan they noticed that there was a problem.

“He had actually fractured his leg while I was carrying him.

“When he was first crawling he had a lot of fractures. He tried to grab furniture and would bang himself and fracture his legs.

“He mostly fractures his legs, but has damaged other limbs and breaks fingers or toes every other month.”

He has lived with it a long time so can be sensible and he does understand his limitations Dorothy Hall

Now a new trial has discovered that a drug used to treat osteoporosis in adults can reduce the number of fractures suffered by affected children like Luke.

Professor Nick Bishop, an expert in brittle bones based at Sheffield Children’s Hospital, has found that risedronate can increase bone mass and reduce deformities.

More than 50 children took part in a trial, which established that a weekly dose of just 2mg could reduce the fracture risk – making it an easier and cheaper alternative to existing drugs for less severe cases.

OSTEOGENESIS IMPERFECTA Osteogenesis Imperfecta (OI) is a genetic condition present from birth It affects one in 5,000 children and there are about 14 new cases a year Severe cases can expect between 200-300 fractures in a lifetime, if untreated

“We wanted to see whether we could reduce admissions and all of the children had fewer fractures,” he said.

“It’s taken us seven years to find out but this is a big step forward, as it helps us to tell what is best for the patient.”

He said that those with more severe OI, babies or adolescents at the end of their period of growth, would be better off using the intravenous drug pamidronate.

Energy boost

Dorothy Hall said that the risedronate had also helped to increase Luke’s energy levels.

Prof Bishop concurred that children on the trial were also generally happier.

“The drug made them feel better in themselves.

“Parents tell us that their child has more energy when on the treatment, and are happier, not so grumpy.”

Prof Nick Bishop says the trial has led to a big step forward

Mrs Hall said Luke was remaining on the drug and that, although scans showed his bones are thicker, he is still at risk.

“He has lived with it a long time so can be sensible and he does understand his limitations,” she said.

“It is easier now than when he was a child.

“There are things he can’t do.

“Until he was 13 he played for a football team.

“He understood why he could not continue, because as the children got bigger the risk of breaking something grew.

And although an arm and a leg are quite simple to deal with if he injured his spine there would be no road back.”

Jane Tadman, from the Arthritis Research Campaign, which funded the clinical trial, said: “Brittle bone disease is a serious, if rare condition which can ruin the lives of affected children, so we hope that Professor Bishop’s work will have a profound impact on the way it is treated, and enable many more youngsters to lead more normal, active lives.”