Scientists "Cure" Patients With "Bubble Boy" Disease In Breakthrough Treatment

Scientists have used gene therapy to "cure" babies born with a rare, life-threatening immune condition dubbed "bubble boy" disease, known as X-linked severe combined immunodeficiency (SCID-X1).

The condition was brought to the public spotlight with David Vetter, the boy born in 1971, who spent his life in a plastic bubble to protect his immune system from infection. He died at the age of 12 from a form of cancer called lymphoma, introduced to his delicate immune system by the Epstein-Barr virus. This, it should be noted, is not the standard course of treatment for nowadays for the disease and has been used in a few cases.

The patients in the current trial "are toddlers now, who are responding to vaccinations and have all the immune systems they need for the protection of infections as they explore the world and live normal lives," said study author Ewelina Mamcarz of the St Jude Department of Bone Marrow Transplantation and Cellular Therapy in the US. "This is a first for patients with SCID-X1."

The disorder is an inherited condition that almost always occurs in males. Without proper treatment and care, patients have a good chance of living past infancy. The disease affects around 1 in 50,000 to 100,000 newborns, according to the NIH. The condition is caused by a mutation in the IL2RG gene, which is responsible for the body's instruction manual for producing a protein essential for a healthy immune system.

Currently, there is a viable treatment for SCID-X1: a bone marrow transplant. However, this means that patients must have a match and are less than 20 percent of patients usually, according to the study authors. Instead, they tend to rely on blood stem cells that are not family, a situation that is more likely to be affected.

The experimental therapy by St. Jude Children's Research Hospital has been investigated on eight infants who lacked a matched sibling donor. The team used a modified version of HIV that can not cause AIDS to deliver the correct gene to the DNA of their blood stem cells, which does not function correctly.

Two days prior to this, the patients received low-dose busulfan, an agent used in chemotherapy to help make space for donor stem cells to grow in the marrow. The majority of the patients were able to leave the hospital within a month.

The outcome? All the patients are developing normally so, according to the study, and none have incurred a life-threatening infection. None have developed leukemia, which was an outcome of previous gene therapy attempts for SCID-X1.

"While longer follow-up is needed to badess any late-stage treatment, these results suggest most patients treated with this gene therapy will be complete sustainable immune response," said co-author Mort Cowan, a UCSF professor of pediatrics. .

Currently, it appears to be a cure. The possibility of these children leading unchained by this debilitating condition can not be overstated. However, this time will only be effective in the long term.

"David's life showed courage, patience and understanding," said Carol Ann Demaret at the Immune Deficiency Foundation. "He accepted the unique circumstances of his life, but waited to find the way to come out of his bubble."

UCSF and St. Jude's, these children have.

Co-author Stephen Gottschalk added: "We hope this therapy, which includes several novel features, will serve as a template for developing gene therapy to treat other devastating blood disorders."