What did the project achieve?
“Our laboratory results are promising, suggesting that gene therapy could eventually offer a new cure for boys with XLP,” says Professor Bobby Gaspar of the UCL Great Ormond Street Institute of Child Health.
X-linked lymphoproliferative disease (XLP) is a rare, inherited condition that affects the immune system. Caused by a single faulty gene, affected boys have an increased risk of developing life-threatening infections and some will develop a type of cancer caused lymphoma. Currently, the only hope for a cure is a bone marrow transplant, but this isn’t always possible – and sadly, many boys with XLP will lose their lives.
Professor Gaspar, and Dr Claire Booth at the same institution, are aiming to develop a new gene therapy for XLP. The approach involves getting a healthy copy of the faulty gene into the patient’s own T cells – a type of white blood cell – and transplanting these back into their body.
“In our laboratory experiments, we have shown that it’s possible to get a correct copy of the gene into T cells – and this can help fix some important immune system problems associated with XLP,” says Dr Booth.
Based on these promising results, Action Medical Research awarded more funding to the team to continue with this exciting research. The team has been carrying out further laboratory experiments modifying the patient’s own T cells, refining their techniques and gathering further evidence on the safety and effectiveness of this exciting new treatment approach.
For more information about these further studies please read: X-linked lymphoproliferative disease: a step closer to developing a cure and X-linked lymphoproliferative disease: working towards a new cure.
This research was completed on
An expert team led by Professor Bobby Gaspar at London’s Institute of Child Health is developing a new treatment for a rare illness called X-linked lymphoproliferative disease (XLP). Boys with XLP typically become ill during childhood or early adolescence. Sadly, without a bone marrow transplant, their disease is normally fatal. Professor Gaspar’s new treatment brings fresh hope. Although still in the developmental stages, he believes it might one day save boys’ lives, and spare them from ill health, by offering a cure.
How are children’s lives affected now?
“The first sign that boys with XLP have the disease often comes when they suffer a severe bout of glandular fever, which can be so serious it becomes life-threatening,” explains Professor Gaspar. “Symptoms vary though. Some of the boys develop a cancer called lymphoma and they can have difficulties fighting off other infections as well.”
Without treatment, around seven in every 10 boys with XLP would die by 10 years of age.1 “The only possible cure is a bone marrow transplant,” says Professor Gaspar. “However, this means finding a donor whose bone marrow is a good match, which isn’t always easy. For transplants to work well, it’s also best to carry them out very early in the disease process, which isn’t always possible.”
Sadly, transplants sometimes come too late and donors cannot always be found. Boys with XLP are still having to live with ill health and all too many are losing their lives.
How could this research help?
“We are developing a new treatment for XLP,” explains Professor Gaspar. “XLP is a genetic disease. We know which gene causes it and we know what that gene does. Our new treatment will involve putting a healthy copy of the gene into the cells in the body that need it – an approach called ‘gene therapy’.”
At the moment, the researchers are in the laboratory stages of their work. By the end of this project, they hope to get to a stage where they can begin to test their new treatment in patients.
Professor Gaspar is optimistic: “If our new treatment is successful, then boys with XLP won’t get infections any more, they won’t get lymphoma, they will be able to live normal lives. We are not trying to make these children a little bit better. We are trying to cure them.”
1. XLP Research Trust, What is XLP? Website accessed 18 September 2013. http://www.xlpresearchtrust.org/default.asp
|Professor Bobby Gaspar MBBS MRCP MRCPCH PhD
|Dr Claire A Booth MBBS MRCPCH MSc PhDProfessor Adrian J Thrasher PhD MBBS FSB FMedSci FRCP FRCPath FRCPCH
|Molecular Immunology Unit, Institute of Child Health, London
|14 August 2013
|Project start date
|4 November 2013
|Project end date
|9 January 2016