Sunday, September 30, 2012

Gene Therapy for "Bubble Boy" Disease

"Stem Cell Researchers Use Gene Therapy to Restore Immune Systems in 'Bubble Boy' Disease"


(credit: iStockphoto)
According to a recent ScienceDaily article, UCLA stem cell researchers have just completed an 11-year study which showed that gene therapy can be used to treat ADA-deficient severe combined immunodeficiency (SCID) or "Bubble Boy" disease. This disease is usually diagnosed when a child is six months old and can be fatal within one or two years. Children with SCID are very vulnerable to infectious diseases. This study looked at a combined gene therapy and chemotherapy treatment regimen, which restored the immune function in three out of the six children who received the treatment. The size of the study was very small; only ten children were involved. The study tested two different viral vectors to deliver healthy ADA genes into the bone marrow cells of the patients. This would then allow the enzyme to be produced in the body and, as the article says, "make up for the cells that don't have the gene." The patients who received the additional chemotherapy treatment had more success than the patients who did not and who continued with the enzyme therapy in addition to the gene therapy.

Before gene therapy became a possibility, the only treatment for ADA-deficient SCID is a very expensive and life-long regime of twice-weekly enzyme injections or, rarely, bone marrow transplants from matched siblings. So far, gene therapy treatment has been given to 40 children in the world.

Dr. Donald Kohn, a professor of pediatrics, microbiology, immunology, and molecular genetics in Life Sciences, who contributed to this study, says "We were very happy that in the human trials we were able to see a benefit in the patients after we modified the protocol. Doctors treating ADA-deficient SCID have had too few options for too long, and we hope this will provide them with an efficient and effective treatment for this devastating disease."

This study indicates that gene therapy is getting closer to saving the lives children suffering from ADA-deficient SCID.

Journal Article:


  1. 1 in 100,000 babies each year suffering from “Bubble boy” syndrome. gene-therapy treatment is showing promise in treating a rare and severe congenital condition that involves extreme immune-system deficiencies.
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