Curing The Disease That Trapped The Bubble Boy

Bubble Boy

Photo: AP

“The Boy in the Plastic Bubble,” starring John Travolta was a made-for-TV movie released in 1976 that told the real life story of David Vetter.David had a rare genetic disease called severe combined immunodeficiency (SCID), that blocked his immune system from developing. Without his immune system he was susceptible to infections from viruses, bacteria, and fungi.

Without an immune system to fight off infections, life expectancy for someone born with SCID is two years. So, Vetter and others like him were confined into a sterile “bubble” to keep them alive. The most effective treatment today is a bone marrow transplant, but sometimes a donor match cannot be found, or the transplant is rejected. This forces the patient to life-long painful injections that keep the immune system running.

Recently scientists have shown that gene therapy can be used to restore the immune system in certain cases of SCID.

One form of SCID that accounts for 15 per cent of all the cases is due to a mutation in the ADA gene that kills off bone marrow (the tissue responsible for making healthy red and white blood cells). In a study published by the journal Blood, researchers used gene therapy to insert a healthy copy of the ADA gene into bone marrow.

The researchers inserted the gene into bone marrow cells using a non-dangerous retrovirus containing genetic code for a healthy ADA gene. Retroviruses have the ability to become a permanent part of host cells. After 11 years of research 3 children with SCID have improved their immune systems for up to 5 years.

Now 8 more children are involved in the second phase of the study, and are already showing favourable responses to the gene therapy. Sadly, it’s too late to treat the bubble boy, but hopefully this technology can help those like him live less sheltered lives.

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