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Developing a new treatment for children with a rare disorder who are vulnerable to life-threatening infections

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What did the project achieve?

“Our laboratory results show that our gene therapy could be an effective new way to treat children with the second most common form of chronic granulomatous disease – or CGD,” says Professor Adrian Thrasher of the UCL Great Ormond Street Institute for Child Health in London.

Around one in every 200,000 children is born with CGD every year in the UK.1 It’s caused by a faulty gene that leaves a child incredibly vulnerable to life-threatening infections. The only current hope of a cure involves a stem cell transplant, but it can often be difficult to find the right donor.

The team are building on their previous success with another similar gene therapy for children with the most common form of CGD, which is looking very promising in early clinical trials.

“We have now carried out extensive laboratory tests on our new gene therapy that’s designed to treat children with the second most common form of the disease – and the results are extremely encouraging,” says Dr Giorgia Santilli, the leading scientist on the project.

“We are very optimistic about the future – our hope is that this will offer not only a new treatment, but also a cure,” continues Professor Thrasher. “And we are delighted to have attracted significant further funding to take the treatment forward into clinical trials within the next few years. If we succeed, it could transform the lives for the one in four children with CGD affected with this form of the condition."1


  1. Holland SM. Chronic Granulomatous Disease. Hematol Oncol Clin North Am 2013; 27:89-99.

This research was completed on

Children with a rare disorder called chronic granulomatous disorder, or CGD, may one day benefit from a new treatment that’s being developed by Professor Adrian Thrasher and Dr Giorgia Santilli of University College London. Children with this disorder are vulnerable to infections that can be life threatening. Although bone marrow transplants offer a cure, suitable donors can’t always be found. Without a transplant, children need lifelong medication to protect them from infection. Sadly, some lose their lives early. Professor Thrasher and Dr Santilli are developing a new treatment – a gene therapy – which they hope will one day transform children’s lives by offering them a cure.

How are children’s lives affected now?

“Children with CGD are extraordinarily vulnerable to bacterial and fungal infections,” says Professor Thrasher. “Despite treatment with antibiotics they are still susceptible to severe life-threatening infections such as pneumonia, and liver and skin abscesses.”

Children born with CGD, a genetic disorder, are vulnerable to infection because certain cells in their immune system don’t work properly and can’t kill some bacteria and fungi. Estimates suggest up to one in every 200,000 children has the disorder in the UK.1

“So far, the only way to cure CGD is to give children a bone marrow transplant,” says Professor Thrasher. “Unfortunately, though, it is often very difficult to find a donor who’s a good match.”

Children who can’t have a transplant need lifelong treatment with antibiotics and antifungals, but they remain vulnerable to severe infections and inflammation that can cause permanent organ damage. Sadly, some people with CGD lose their lives early, often because of repeated lung infections.

How could this research help?

“We’re developing a new gene therapy for children with CGD,” says Dr Santilli.

Children with CGD have faults in the gene for a protein that helps immune cells fight infection. The new therapy will work by inserting a corrected copy of that gene into children’s immune cells.

“There are different forms of CGD,” says Dr Santilli. “We’ve already begun clinical trials of a new gene therapy for children with the most common form. In this project, we’re in the laboratory stages of developing a similar therapy for children with the second most common form of CGD, which is called p47 deficiency. Around one in four children with CGD have this form.”1

Dr Santilli hopes the new gene therapy will prove life-changing for children with CGD: “We are optimistic that gene therapy for CGD will not only be a treatment, but a cure. This could free children from the need to take lifelong medication and stop them from experiencing repeated infections.”


1. Holland SM. Chronic Granulomatous Disease. Hematol Oncol Clin North Am 2013; 27: 89-99.




Project Leader Professor Adrian J Thrasher PhD MBBS FSB FMedSci FRCP FRCPath FRCPCH
Project Team Dr Giorgia Santilli PhD
Project Location Molecular Immunology Unit, Institute of Child Health, University College London
Project duration 18 months
Date awarded 21 November 2014
Project start date 18 May 2015
Project end date 1 April 2017
Grant amount £80,249
Grant code GN2322


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