![]() ![]() He was born with the genetic disorder in 1971 and spent nearly the entirety of his life within a series of rooms separated from others by sheets of plastic. A boy named David Vetter was the first “bubble boy” and was the person for whom the term was coined. ![]() The term “bubble boy disease” stems primarily from cases of the disorder in which the person afflicted with the illness was forced to live in a plastic bubble to avoid germs and viruses. With modern medical treatment, however, this condition can be fought and there is a decent chance of recovery through gene therapy, stem cell treatments, or bone marrow transplant. This is because the disorder itself does not actively harm a person it simply renders a person’s immune system incapable of fighting off germs and viruses. Much like auto immunodeficiency syndrome (AIDS), a secondary infection or illness will ultimately cause the person’s death. Someone with bubble boy disease does not ultimately die from the disease itself. Regardless of what genetic disorder precisely causes this disease in a specific individual, the results are typically the same: the immune system in the person is unable to properly produce T cells and B cells, which fight off illness. This is typically a hereditary disorder that can be passed on by a mother or father, in whom the disorder is recessive and so some offspring may not have the disease while others do. ![]() Technically referred to as severe combined immunodeficiency (SCID), bubble boy disease is a genetic disorder that can be caused by a number of different genetic issues. This disease is named for the fact that in many instances of this illness in the past, the person was forced to live in a plastic bubble to avoid contact with germs and viruses. Someone afflicted with this type of disorder has an immune system which functions so poorly it is typically considered to be effectively absent. Though the specific nature of this disease can be the result of a number of different genetic causes, in general the effective condition is the same. “These foamy virus vectors, because of the way they behave biologically, are proposed to be safer than the previous gene therapy vectors used in human patients,” says Felsburg.īy the end of the five-year project, Felsburg and his research partners hope to have enough data from trials in dogs and mice to win approval for clinical trials of the foamy virus therapy in humans.Bubble boy disease refers to one of several genetic disorders that manifest as an inability by the body to produce cells that battle infection or illness. With the new funding, Felsburg and the other researchers will test a new approach, using a type of retrovirus called a foamy virus, to deliver a “good” copy of the SCID-affected gene into patients. While previous gene therapy trials have advanced to the stage of human clinical trials, problems have emerged. “The dog is the mirror image of what happens in humans with the disease,” he says. Though other researchers have created a mouse model of XSCID, Felsburg says the immunologic defect in the mice differs from that of the human and dog, and dogs have remained a superior model species for evaluating the efficacy of treatments. Studies of these dogs-dubbed “bubble bassets,” although beagles are now the main breed used-have led to a few different approaches to treatment, using bone marrow transplants and various types of gene therapy, where the dogs receive healthy copies of the defective gene. To better comprehend the underlying cause of the disease and to test possible treatments, Felsburg and colleagues developed a model of X-linked SCID in basset hounds. In addition, many newborns contract an infection before the disease is even diagnosed. Bone marrow transplants can save their lives, but the transplants require a genetically matched donor, usually a sibling. Untreated, baby boys often die before the age of 2. In these patients, the B and T cells-important players in fighting disease-are low in number and function poorly, rendering babies helpless to infection. X-linked SCID affects only boys, impacting one of every 30,000 newborns. A new funding award of $12 million over the next five years from the National Institutes of Health will enable Felsburg, along with colleagues at the Fred Hutchison Cancer Research Center and several other institutions, to focus on a novel type of gene therapy that might safely treat the condition. Peter Felsburg, Trustee Professor of Immunology at Penn’s School of Veterinary Medicine, has been studying the most common form of the disease, X-linked SCID, for more than 25 years. David Vetter, the boy who lived in a plastic bubble until his death at the age of 12, suffered from a disease known as Severe Combined Immunodeficiency, or SCID. Made famous by the television show “Seinfeld,” the real “bubble boy” was no joke. ![]()
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