A Gene Therapy Breakthrough Could Offer a Treatment for the Rare and Deadly ‘Bubble Boy’ Disease

Researchers used an experimental gene therapy to develop a possible treatment for a rare and deadly immune disorder known as “bubble boy” disease, the National Institutes of Health (NIH) announced Wednesday. Because of a gene mutation, babies who are born with X-linked severe combined immunodeficiency (X-SCID) do not develop immune cells properly, leaving them highly susceptible to infections. The condition, which strikes up to one in 50,000 newborns, primarily affects boys and requires extreme measures to prevent infection. In one famous case, a boy with SCID, David Vetter, lived in a sterile plastic “bubble” until his death at age 12 — hence the disease’s nickname. Until now, the best treatment for these difficult cases relied on using bone marrow transplants from tissue-matched siblings to restore immunity. But since many patients do not have a sibling who’s a match, doctors often resort to other donors. Such donations can improve patients’ health, but they often can’t produce full immunity, the NIH says — which is why gene therapy has seemed so promising. Still, previous gene therapy techniques either did not fully restore immune function or resulted in side effects as serious as leukemia. Now, a gene therapy advance described in a small New England Journal of Medicine study seems to have safely produced a robust immune response in eight young patients, offering families and doctors new hope. Eight infants with...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Research Source Type: news