UCL News


Second gene therapy triumph for ICH

11 March 2005

Academics at UCL's Institute of Child Health (ICH) and Great Ormond Street Hospital (GOSH) are the first in the UK to have successfully treated a young boy with a rare genetic disorder using gene therapy.

This is the second disease that the team have treated using a pioneering technique.

Four year-old Mustaf was born with adenosine deaminase severe combined immunodeficiency (ada-SCID), a hereditary abnormality of the immune system. The life-threatening condition affects both boys and girls, and means that the children have no working immune system. Without treatment, patients rapidly sicken and die.

A bone marrow transplant with a good donor is curative 90 percent of the time, but a good donor match for Mustaf could not be found. He was the first ada-SCID patient at GOSH to be offered gene therapy, as he did not respond well to PEG-ADA, a drug used to replace the missing enzyme.

UCL's Professor Adrian Thrasher and Dr Bobby Gaspar took a sample of Mustaf's bone marrow. Blood stem cells were removed and an artificially created version of the correct, working gene was then inserted into those cells using a harmless virus. A mild dose of chemotherapy prepared space in his bone marrow for the corrected cells to proliferate. The modified cells were then infused into Mustaf's body, creating a new working immune system.

After five weeks in isolation, Mustaf was discharged. His immune system is already better than it was on PEG-ADA. Dr Gaspar said: "He is doing very well. He looks like a healthy boy. He is now in pre-school and can live life largely free of restrictions."

The news was announced at the official opening of UCL's Wolfson Centre for Gene Therapy of Childhood Disease at the ICH. Funded by the Wolfson Foundation, the new laboratory facilities will help to further the institute's gene therapy research.

Professor Thrasher had previously pioneered this treatment on another life-threatening immune disease, x-SCID. Seven children and one adult have so far been treated for the disease at GOSH, all with significant restoration of their immune systems.

Professor Thrasher said: "In x-SCID, the immune system has failed totally, so any restoration of the immune cell reproduction is beneficial. For ada-SCID, a mild dose of chemotherapy is needed to help the engraftment of corrected cells. The combination of gene therapy with mild chemotherapy is likely to be a useful approach for many other immunological and haematological diseases such as thallasaemia."

To find out more about the ICH use the link below.

UCL's Institute of Child Health