Breakthrough for "Bubble Boy" Disease

Reported December 13, 2006

By Lucy Williams, Ivanhoe Health Correspondent

ORLANDO, Fla. (Ivanhoe Newswire) — For people born with severe combined immunodeficiency (SCID), exposure to seemingly harmless germs can be deadly. But breakthroughs in stem cell research bring new hope to the search for a cure.

SCID is a severe genetic defect more commonly known as “bubble boy disease.” Individuals with SCID are extremely susceptible to germs and disease; even benign germs can be fatal. Patients must live essentially in a hospital or in isolation until the disease is successfully treated. Previously, SCID patients required continuous treatment over their lifetime to prevent sickness and death.

“Without treatment, these children generally die within months of birth,” lead author Alessandro Aiuti, M.D., of the San Raffaele Telethon Institute for Gene Therapy in Italy, told Ivanhoe. “Unfortunately, with this type of disease, the success rate is very low.”

Now, researchers believe stem cell transplants could effectively treat and potentially cure a form of SCID caused by a deficiency of the adenosine deaminase gene, or ADA-SCID. Researchers treated eight children with ADA-SCID. They removed autologous hematopoietic stem cells from the patient’s bone marrow, combined stems cells with the ADA gene, then transplanted the stem cells back into the patient’s body.

All study participants are healthy, even six years after treatment. The stem cells integrated into the patients’ marrow, and patients are now able to generate healthy blood cells. The children no longer need to be isolated to survive.

“Patients are alive and going to school, and they no longer need to be protected and completely isolated from other people as they were before,” Dr. Aiuti said. “This is good news for both the children and the gene therapy field, which has been struggling for many years.”

The children have continued to grow and develop because the ADA genes sustain activity in the blood cells. Tests reveal the presence of antigen-specific antibodies, which help the immune system fight bacteria and viruses. Five patients had antibody levels high enough to discontinue treatment of supplemental antibodies.

“Based on the experience of bone marrow transplant, this treatment will be life long,” Dr. Aiuti said. “Hopefully, they will not need follow-up treatment. The children who completely reconstituted did not need follow-up treatment in years following the study.”

Dr. Aiuti said this research opens the doors for future breakthrough treatments of ADA-SCID.

“We have the demonstration,” she said. “By improving therapy, the bar can be raised.”

This article was reported by Ivanhoe.com, who offers Medical Alerts by e-mail every day of the week. To subscribe, go to: http://www.ivanhoe.com/newsalert/.

SOURCE: Ivanhoe interview with Alessandro Aiuti, M.D., of the San Raffaele Telethon Institute for Gene Therapy in Italy; American Society of Hematology 48th Annual Meeting and Exposition Dec. 9-12, 2006, Orlando, Fla.

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What is SCID?

Severe combined immunodeficiency disease is the most serious primary immunodeficiency disorder. The defining characteristic of SCID is the absence of T cells and, as a result, lack of B cell function as well. Unless these defects are corrected the child will die of opportunistic infections before their first or second birthday. SCID can be caused by several different genetic defects, most of which are hereditary. In the past, children with this disorder were kept in strict isolation, sometimes in a plastic isolator or "bubble". Bubbles are no longer used as a standard of care, but the name remains a part of the history of SCID.

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Disclaimer: News articles come and go on the internet. When you find an interesting article and link to it, the link is dead in six months and the article is gone. I've copied many news articles here. I've included the information on the writer and linked back to the original publication. My intent is never to take anyone else's work as my own. My intent is to keep a repository of all the articles I find to be interesting. Many of these articles bring hope and encouragement to a family with a SCID child. Families with this disease are so rare, and they need to see that they are not alone in this struggle to keep their child alive. I hope this page is helpful to anyone with a family member or friend with any form of SCID.

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