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Scientists have reached a new gene therapy landmark by successfully treating a four-year-old boy born with no immune system.
The boy, named only as Mustaf, suffered from the rare life-threatening immune disorder.
Doctors used a harmless virus to carry a corrective gene into his bone marrow and get his immune system working.
Only five previous patients with Mustaf's condition, ada-SCID have been successfully treated in the same way, in Milan, Italy.
Children with SCID (Severe Combined Immunodeficiency) are born with no working immune systems and are susceptible to the slightest infection. It results from the lack of an enzyme which helps cells get rid of toxic by-products. Without it, poisons build up and kill immune system cells.
A bone marrow transplant from a good donor can cure ada-SCID 90 per cent of the time. However, only 30 per cent of families have a good donor, and the risks are significantly higher if a transplant is attempted with a poorer match.
Alternatively, attempts can be made to replace the missing enzyme.
No good donor match
Mustaf was born in September 2000, and ada-SCID was diagnosed the following month. There were no good bone marrow donors in his family and he was put on enzyme treatment.
"For three years he was relatively well, although his immune system function was poor," said Professor Adrian Thrasher, who led the treatment at Great Ormond Street Hospital."
In November 2003 enzyme treatment was stopped and stem cells taken from Mustaf's bone marrow. The cells were infected with a virus carrying a 'working' gene with the power to restore his immune function.
A mild dose of chemotherapy had to be applied to prime the bone marrow for the treatment. Then the stem cells were transplanted back.
After five weeks in isolation at the hospital, Mustaf was able to go home.
"He has made steady progress and his immune function is already better than it was with enzyme replacement therapy," said Professor Thrasher.
"He continues to receive prophylactic antibiotics and antibodies, but if his immune system continues to develop we will be able to withdraw these. Doctors are pleased with his progress."
Cost effective
Doctors point out that on-going enzyme treatment costs the NHS up to £200,000 a year, while a bone marrow transplant cost a one-off £100,000.
"Therefore, in the long term, gene therapy offers the prospects of cheaper and more effective treatment," said Professor Thrasher.
The suuccess of this operation marked the official opening of the Wolfson Centre for Gene Therapy of Childhood Diseases at the Institute of Child Health. The new facilities are part of a £16 million redevelopment of the Institute.
A total of £132 million is being spent redeveloping the joint site shared by Great Ormond Street Hospital and the Institute of Child Health.
