Bubble baby gene therapy ‘worth the risk’

September 30, 2010

Bubble baby gene therapy ‘worth the risk’

By Philippa Roxby Health reporter, BBC News

‘Bubble boy’ Rhys Evans turns 10

Rhys Evans was born with no functioning immune system and no resistance to infection.

Even simple germs like a cold could have killed him.

Today he is celebrating his 10th birthday and he is a healthy, happy schoolboy.

Thanks to ground-breaking gene therapy treatment at Great Ormond Street Hospital, Rhys has a working immune system and is able to live a normal life.

But it was not always that way. Rhys, from the village of Nelson in Caerphilly county, was born with a fatal genetic disorder called X-SCID – X-linked severe combined immunodeficiency.

He suffered recurrent chest infections from the age of four months and was eventually admitted to hospital with pneumonia.

Doctors finally diagnosed X-SCID, a very rare disease which affects only two or three children in the UK each year.
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Gene therapy has the potential to tackle disorders where there was no treatment at all before.”

End Quote Professor Adrian Thrasher Great Ormond Street Hospital

In 2001 Rhys began his gene therapy treatment.

Nine other boys with the same disorder have now been treated in the same way at the London hospital.

“Most of the children have recovered good immunity,” says Professor Adrian Thrasher, consultant immunologist at Great Ormond Street Hospital.

The disease is often known as ‘baby in the bubble syndrome’, because affected babies have to be kept well away from any infections.

Rhys’s mother Marie Evans explains: “Before Rhys’s treatment he was cut off from the outside world in a super-clinical room where he could only be visited under strict supervision.

“He was so weak he couldn’t even hold his head up,” she said.
New instructions

During gene therapy, a working copy of the defective gene is placed in the child’s own bone marrow cells using a virus and these are then returned to the child’s body.

The hope is that the modified cells grow and help restore the child’s immune system.

Without the treatment, Rhys would have died before his second birthday.

In 2007, however, Great Ormond Street hospital announced that one of the 10 children receiving gene therapy had developed leukaemia.

Subsequently, there were headlines questioning the treatment programme.

But leukaemia was “an acknowledged risk” of the treatment for this specific group of diseases, says Professor Thrasher, which they were prepared for.

It is thought the implanted gene was planted next to, and switched on, a gene that causes cancer.

Other similar studies in France and the US had also experienced the development of leukaemia in a small number of patients.

“We have learnt why that’s happened,” says Prof Thrasher. “We’ve now redesigned the vector which carries the gene into the cells and the risks are much, much lower.”
Assessing the risk

“We must stack this risk alongside the risk of normal treatment and the dangers of a mismatched bone marrow transplant. Leukaemia is a very serious illness but it can be treated and success rates now exceed 80%.”

The conventional treatment for a child with X-SCID is bone marrow transplantation.

This can have excellent results when a fully matched donor is found, but results are less successful with a poorer match.

And only one third of X-SCID patients will have a fully matched donor.

Great Ormond Street is the only hospital in the UK doing this type of gene therapy for children with X-SCID and similar genetic disorders.

“There is no real difference between this and any other form of medicine,” Professor Thrasher explains.

“There will be side effects but you have to balance the risks against the benefits.

“Gene therapy has the potential to tackle disorders where there was no treatment at all before, for inherited diseases particularly.”

And how is Rhys now?

“We still keep an eye on him as because he’s growing, his immune system sometimes needs a helping hand to keep up,” replies Prof Thrasher.

“But we’re delighted to see he’s doing so well eight years after his treatment.”

linkback url: http://www.bbc.co.uk/news/health-11443123

How an in-gene-ious treatment saved Rhys

September 30, 2010

How an in-gene-ious treatment saved Rhys

Sep 30 2010 by Kathryn Williams, South Wales Echo

Read More http://www.walesonline.co.uk/news/wales-news/2010/09/30/how-an-in-gene-ious-treatment-saved-rhys-91466-27369419/#ixzz12MsRM1Ew

TEN-YEAR-OLD Rhys Evans will be celebrating his birthday today by thinking of someone else – the charity that helped save his life.

Rhys, from Nelson, was the first child in Britain to be cured by gene therapy after he was born with SCID – a severe combined immunodeficiency – which meant he had no resistance to infection. Left untreated, the condition would have killed Rhys before his second birthday – even simple germs like a cold could have killed him.

Rhys’s mum and dad, Marie and Mark, still remember the time they spent with their little boy in Great Ormond Street Hospital, who now is like any other 10-year-old, building Lego and teasing his little brother Alex.
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Mark said: “Rhys was just three months when he kept getting ill all the time, just after Marie stopped breastfeeding him, the doctors tried lots of different drugs, but nothing would work.

“The doctors at the University Hospital of Wales in Cardiff were stuck so they rang Great Ormond Street, who wanted him to come up.”

Rhys was sedated for weeks until the paediatric doctors proposed trying gene therapy on him, instead of the usual bone marrow transplant.

Despite initial concerns, Marie and Mark decided to go ahead with the therapy, and now Rhys, who attends Ysgol Bro Allta in Ystrad Mynach, is 99% well, although he needs daily injections to keep his immune system strong.

Mark said: “After the therapy he was kept in isolation, we had to wear special boots, mask, hat and gloves and enter a special room to get rid of all the dust and germs from our clothes.

“After Rhys came out of hospital, we couldn’t really take him out to shopping centres or parties, but he was able to start nursery and then full-time school.

“He has had chicken pox but was able to fight that off himself, which is really pleasing. We have been a little bit overprotective, but we’ve had to be.”

But Rhys, who turns 10 today, is as active as any other child his age, attending after-school dance classes, and even has a keen interest in science and playing with his Lego.

He said: “Sometimes I have to put the cream on my legs when I have the injections, and it’s a little bit scary having a big needle, they may stop in the summer so I can play longer outside.”

Jeans for Genes is the UK children’s charity that aims to change the world for children with genetic disorders. Now in its 15th year, Jeans for Genes has raised a staggering £35m.

Jeans for Genes Day is tomorrow and invites everyone to wear their jeans to work or school in return for a donation http://www.jeansforgenesday.com

The money raised will help fund vital care and support services for children and families affected by genetic disorders, as well as research.

linkback url http://www.walesonline.co.uk/news/wales-news/2010/09/30/how-an-in-gene-ious-treatment-saved-rhys-91466-27369419/

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