A CHILD born with a genetic defect that left him defenceless against infection has been cured by gene therapy at Great Ormond Street Hospital in Central London.

Mustaf, who is four, was born with the life-threatening disease ada-SCID. Without treatment such children soon weaken and die. In 90 per cent of cases, a well-matched bone-marrow transplant provides a cure, but in only 30 per cent of patients can such a match be found.

The alternative is to provide the enzyme they are missing, adenosine deaminase, but this has to be administered weekly and is not in itself a cure.

Gene therapy has been used with success in a related condition, x-SCID, and a similar procedure was used for Mustaf. Doctors removed blood stem cells from the bone marrow, inserted the correct working gene into the cells, then infused the repaired cells back into the child. For x-SCID, where the child has no functioning immune system at all, that procedure is enough for a cure. But, for ada-SCID, a further stage is necessary, with mild chemotherapy needed to destroy some cells and provide space for the repaired cells to proliferate.

The procedure was the first success for this condition in Britain and is believed to be only the second in the world.

Its announcment coincided with the official opening of the Wolfson Centre for Gene Therapy of Childhood Disease, at the Institute of Child Health in London, part of the redevelopment of the ICH and of the redevelopment of the joint Hospital-Institute site.

Seven children and one adult have been treated for x-SCID at Great Ormond Street. All have seen significant restoration of their immune systems and none has suffered any significant side-effects.

Mustaf was born in September 2000 and ada-SCID was diagnosed a month later. There were no good bone-marrow donors in his family, so he was put on to enzyme replacement therapy, which for three years kept him relatively well.

He was treated with gene therapy just over a year ago, kept in isolation for five weeks and then allowed home. His immune function is already better than it was with the enzyme replacement therapy.

He continues to receive prophylactic antibiotics and antibodies but if his immune system continues to develop doctors will be able to withdraw these. He is attending pre-school and can live a relatively normal life. Professor Adrian Thrasher, who led the treatment, “Doctors are pleased with his progress.”

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