NEW YORK — Gene therapy seems to have cured eight of 10 children who had potentially fatal “bubble boy disease,” according to a study that followed their progress for about four years after treatment.
The eight patients were no longer on medication for the rare disease, which cripples the body’s defenses against infection. The successful treatment is reported in today’s New England Journal of Medicine and offers hope for treating other diseases with a gene therapy approach.
Bubble boy disease is formally called severe combined immunodeficiency, or SCID. The genetic disorder is diagnosed in about 40 to 100 babies each year in the United States. The nickname comes from the experience of a Houston boy, David Vetter, who became famous for living behind plastic barriers to protect him from germs. He died in 1984 at age 12.
He had the most common form of SCID. Recent studies found that gene therapy produced impressive results for that form of the disease but also carried a risk of leukemia.
The new study involved a different, less common form of SCID. This form arises in babies with a genetic defect that leaves them deficient of an enzyme called adenosine deaminase.
Researchers removed marrow cells from the patients, equipped the cells with working copies of the gene for the enzyme and injected the cells back into the patients. The journal article reports the outcome two to eight years later. All 10 patients were still alive, but two needed further treatment.
