Duke Study Shows Early Marrow Transplant Key To 'Bubble Boy' Disease Cure

WASHINGTON -- They lived short lives in sterile rooms. Children with a disorder known as "bubble boy" disease were born without an immune system, and they inevitably died from common infections. Their fate was dramatized by a documentary film of a young Texas patient who lived and died in a germ-free plastic sphere.

Now, researchers at Duke University Medical Center are reporting that the disease, known as severe combined immune deficiency (SCID), can be cured in many cases if diagnosed and treated early enough.

A 15-year study by Duke physicians shows that more than 90 percent of babies born with the disorder can be given a healthy immune system if they receive a bone marrow transplant within three months of birth. They also have learned that these children need not have a perfectly matched donor, but can use a parent's "half-matched" marrow. Furthermore, the babies do not need toxic pre-transplant chemotherapy, as is often thought and currently practiced.

The results of the study of 79 children were prepared for presentation May 3 at the joint American Pediatrics Society/Society for Pediatric Research annual conference. Duke is one of only a few hospitals in the country that specializes in treating children with SCID.

"This once-fatal disease should be now seen as a pediatric emergency, a condition that needs immediate diagnosis and treatment," said Dr. Rebecca Buckley, chief of Duke's division of pediatric allergy and immunology.

Buckley said early diagnosis of SCID is rare because doctors do not routinely perform a test in newborns to count white blood cells. Such a blood test could pick up children with SCID as well as those with other serious immune deficiencies that would not be apparent until the child developed an infection. "A simple blood test could allow us to treat, and most likely cure, SCID in a child for as little as $25,000,"

Contact: Renee Twombly
Duke University Medical Center

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