Gene Cell Therapy Reportedly Corrects ‘Bubble Boy’ Disease

A single injection of genetically modified stem cells is all it took to cure two children of a complex form of an inherited immune system disorder often referred to as “bubble boy disease,” researchers report.

An experimental technique that altered genes in bone marrow stem cells restored the immune systems of the children, researchers from Italy and Israel said in a study appearing in the journal Science. The children were born with what experts said was the most complex form of severe combined immunodeficiency disorder, or SCID.

“Both children have been cured but ... will be closely followed to see how it develops in the future,” said Maria Grazia Roncarolo of the San Raffaele Telethon Institute for Gene Therapy in Milan, Italy.

The children, 7 months and 2 1/2 years old when the therapy began, were released with healthy, functioning immune systems 15 to 24 months ago, Roncarolo said.

Their form of SCID was caused by a gene flaw that blocks production of an enzyme called ADA, which is essential to make disease-fighting immune cells.

Injections of bone marrow stem cells, altered to contain the missing enzyme gene, were used.

SCID strikes about 50 children a year. In the past, the disorder was always fatal, with the children usually dying in infancy.

In the 1960s, doctors began treating SCID by isolating patients in sterile environments. A Houston boy, called “David the bubble boy,” spent all 12 years of his life in a plastic bubble filled with filtered air. He died in 1984.