- According to the new study published by the New England Journal of Medicine, eight infants with “bubble boy disease,” -a severe immune disorder, appear to be cured of the disease thanks to an experimental gene therapy.
- The disorder, officially called X-linked severe combined immunodeficiency (SCID-X1), causes babies to be born with little to no immune protection, making them prone to developing life-threatening infections. It’s caused by a specific gene mutation.
- The new gene therapy involves using an altered version of HIV — the virus that typically attacks the immune system and causes AIDS — to deliver a correct copy of the gene that causes the condition. (In this case, the virus had been genetically engineered so that it does not cause disease.)
- The patients were treated at St Jude Children’s Research Hospital in Memphis and at UCSF Benioff Children’s Hospital in San Francisco.
- SCID-X1 is caused by a mutation in a gene called IL2RG, which is critical for normal immune function, according to the National Institutes of Health. The condition is rare, likely affecting about 1 in 50,000 to 100,000 newborns.
- The disease can be essentially cured by a bone-marrow transplant from a sibling that is a match in terms of certain immune system proteins. But fewer than 20% of patients with SCID-X1 have such a donor available, the authors said. Bone-marrow transplants from unrelated donors are typically less effective and come with greater risks.
- The name “bubble boy disease” comes from the highly publicized case of David Vetter, who was born in 1971 with SCID-X1, and spent most of his life in a plastic bubble while awaiting a bone-marrow transplant, according to CBS. He died at age 12, after receiving his transplant.
(Originally published in Live Science)
