Medical researchers, including staff at Great Ormond Street Hospital, say they have found a safe genetic treatment for a condition where some children are born without an immune system.
Scientists are for the first time using the word ‘cure’ for what is most commonly known as the ‘boy in the bubble’ syndrome. Children born without immune systems, leaving them vulnerable to infections, have most commonly been treated with expensive drug therapy or have been given bone marrow transplants.
In 2000, what are known as ADA-SCID and SCID-X became the first diseases to be treated with gene therapy. But the programme was temporarily halted after one child developed leukaemia.
Now resarchers from the Institute of Child Health and Great Ormond St Hospital in London, Guy’s Hospital in London, Ghent University Hospital in Belgium and Aghia Sophia Children’s Hospital, Athens, Greece, have published a joint paper in which they say a new and improved method of delivering the gene therapy means that is afe and effective.
The article, published in the journal Science Translational Medicine, says that the therapy has worked in 14 of the 16 children. The child who developed leukaemia is now in remission after chemotherapy.
Professor Bobby Gaspar, of the Institute of Child Health, said they had identified the defective gene that prevented the immune system from developing. They were able to take it out and replace it with a ‘healthy, working copy’ and place the bone marrow back into the patient.
“We are extremely pleased with these results,” Prof Gaspar said. “It has been a huge team effort and we are very excited. It looks to be effective, long-lasting and robust and paves the way to develop gene therapy for lots of other diseases, not just for the immune system but other disorders of the blood.”
He added that there was a huge amount of optimism around the findings.
Rhys Evans was the first child to be given the gene therapy in the UK in 2001. He is now nearly 11 and healthy.