Gene Therapy Cures Fatal Bubble Boy Disease

Gene therapy marked another successful milestone last week when it was used to completely cure eight of 10 children who had potentially fatal “bubble boy disease,” according to a study that followed their progress for an average of four years after treatment. Formally known as severe combined immunodeficiency, or SCID, the genetic disease causes its carriers to develop non-functional immune systems, typically resulting in death from infection within the first year of life without advanced treatment.

The patients in the study suffered from the second most common form of SCID, arising from a single malfunctioning gene that results in a defective enzyme, adenosine deaminase (ADA). To cure the patients, a sample of marrow cells was removed from their bodies, a virus was used to “upgrade” the cells with working copies of the gene, and then the cells were injected back into the patients’ bodies. After taking residence in the body these enhanced marrow cells were able to proliferate within the patients and supplant the original malfunctioning immune system with a functioning one.

SCID acquired the name “bubble boy disease” as a result of the famous story of David Vetter, a boy in the 70’s who literally lived in a sterilized vessel, or bubble, for 12 years in an effort to protect him from infectious encounters. Vetter eventually died in 1984 when an attempt to cure him with a bone marrow transplant failed. This disease, diagnosed in roughly 40-100 children in the United States each year, is particularly heart wrenching because it necessarily afflicts children.