A landmark study has discovered that an experimental gene therapy can be potentially used to treat a debilitating genetic disease called Severe Combined Immunodeficiency Syndrome (SCID), colloquially known as “bubble baby disease," by getting help from an unexpected ally — HIV (human immunodeficiency virus), the virus that causes AIDS.
The scientists were able to give 48 children, who were born without an immune system, a one that works, and with it, a chance to live a normal life free of the constant fear of infection and sickness, the Associated Press reports.
The children had SCID, which is caused by a hereditary genetic mutation that prevents the bone marrow from producing healthy copies of the immune system's blood cells. When left without treatment, it often kills in the first year or two of life.
What is SCID?
After a case in the 1970s involving a Texas child who had to live in a protective plastic bubble for 12 years to shield himself from germs, the condition, which makes everyday pathogens deadly, became known as "bubble boy disease," but affects girls too.
The disease can be reversed with a bone marrow transplant from a compatible sibling, but finding a suitable donor is difficult, and the operation can be very dangerous; the Texas boy died after one.
Using HIV as a delivery system
A new study, released in the New England Journal of Medicine on Tuesday, reports that the University of California, Los Angeles researchers attempted instead to reactivate the immune system. What they've found was nothing short of brilliant: They used HIV as a distribution system to transport a healthy version of the related genes to replace the mutated ones.
The research had 50 patients, 30 from the U.S. and 20 from the U.K.The scientists took blood cells from patients, and then used inactive HIV as a delivery vehicle to implant a healthy version of the gene.
The kids were followed up two and three years after the treatments and turns out, they are doing pretty well. The 50 children, with the exception of two who were not supported by the gene therapy but later received active bone marrow transplants, now have good germ-fighting skills. While doctors say more time is required to determine if any of them are cured, the kids seem to be doing well so far.
Dr. Stephen Gottschalk of St. Jude Children’s Research Hospital in Memphis, who wasn't a part of the study but performed a similar gene therapy on 17 other children with SCID in the past, told AP, "People ask us, is it a cure? Who knows long term, but at least up to three years, these children are doing well. The immune function seems stable over time so I think it looks very, very encouraging."