New gene therapy could help Lehi’s ‘bubble girl’

Tuesday, 03 February 2009

New gene therapy could help Lehi’s ‘bubble girl’

Ace Stryker – Daily Herald

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A Lehi mother says she’s looking into experimental gene therapy to help her 7-year-old daughter, who was born with “bubble boy disease,” after European scientists cured eight of 10 children using the method.

Emily Heaps was born with severe combined immunodeficiency, a genetic defect that robs the body of its natural immune system. Contrary to popular belief, Emily doesn’t live in a bubble; her world is kept clean using equal portions Lysol and diligence. But since a bone marrow transplant last August, she’s been mostly isolated at home as her system recovers. It will be eight months before the family has a good idea of whether her body will accept the transplant, said her mother, Jill.

“She could start rejecting any time,” she said, noting that Emily should be able to return to school and church when the wait-and-see period is up.

But if the transplant doesn’t take, Jill said the family is encouraged by the results of gene therapy coming out of Europe. She said Emily’s doctors are looking into the test cases and could pursue something similar if necessary.

“That’s definitely an option if this transplant doesn’t work,” she said. “The first option is always the bone marrow transplant if you can have a match.”

There are concerns with the gene therapy route, Jill said: Some patients have developed leukemia as a result. But faced with the decision between that and no treatment — which would inevitably be fatal — it’s not a difficult choice, she said.

“When you get to the point where you don’t have a choice, you’re going to try anything you can,” she said. “If you have other choices, you always go for those first.”

The eight patients in Italy and Israel who were cured with the gene therapy are no longer on medication for the rare disease. The successful treatment was reported in last Thursday’s issue of the New England Journal of Medicine.

Severe combined immunodeficiency is diagnosed in about 40 to 100 babies each year in the United States. The nickname comes from the experience of a Houston boy, David Vetter, who became famous for living behind plastic barriers to protect him from germs. He died in 1984 at age 12.

Emily’s strain of SCID — a relatively rare one caused by a mutation in the gene that encodes a protein called adenosine deaminase — is one that holds a key position in medical history. In 1990 it became the first illness to be treated by gene therapy, according to the U.S. government. Two Ohio girls improved but continued to take medication.

In the test cases, researchers removed marrow cells from the patients, equipped the cells with working copies of the gene for the enzyme, and injected the cells back into the patients. In most cases, that was done before age 2.

Dr. Donald Kohn, a SCID expert at Childrens Hospital Los Angeles and the University of Southern California, said scientists are trying to understand why gene therapy produces a leukemia risk with the most common form of SCID but not the enzyme-related form.

The journal article reports the outcome two to eight years later, with an average of four years. All 10 patients were still alive, but two needed further treatment. None showed signs of leukemia or other health problems from the therapy, the researchers said.

• The Associated Press contributed to this report.
Ace Stryker can be reached at 344-2556
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