New hope for gene therapy

Imagine that instead of drugs or surgery, you could use genes to treat or even  prevent diseases. That’s the promise of gene therapy, an experimental technique where a gene is inserted into a patient’s cells to replace a non-functioning or disease carrying gene.

genetherapy2While gene therapy could potentially cure a variety of diseases, the development of gene therapy strategies against SCID-X1, better known as “bubble boy disease,” has been stalled since 2005, when five boys in Europe with SCID-X1, developed leukemia during clinical trials. Now, a new international trial, sponsored in the United States by Children’s Hospital Boston’s David Williams, MD, director of Translational Research, hopes to revive this potentially life-saving treatment.

The Children’s team is one of five in the United States and Europe participating in this trial. A total of 20 children with SCID-X1 will be enrolled.

Babies born with SCID-X1 have very little or no immune system, which means they are unable to fight off infections. It’s known as “boy in the bubble” syndrome, because living in a normal environment can be deadly. Many children born with this rare inherited disease die within the first year of their life.

Children participating in the trial will be infused with stem cells from their own bone marrow, in which the missing gene has been introduced. Six months later, their immune systems will be checked to determine whether their ability to fight infections is indeed restored. The children will then be monitored for another 14 and a half years to detect any possible cancers.

Gene therapy may be a life-line for children who otherwise would be at risk of developing life-threatening graft-versus-host disease from a bone-marrow transplant, the only existing treatment for SCID-X1. If this trial succeeds, it should pave the way for treating several other single-gene diseases with gene therapy. “The many years of research investment and development are now paying off,” says Williams. “We believe that continued investment in basic and translational research using this technology will lead to additional advances, bringing new therapies to children worldwide.”