"Bubble boy" disease, also called severe combined immune deficiency (SCID), is a severe condition that leaves children without the ability to fight off a host of diseases. Most of those infants affected by the disorder die before their first birthday, unless treatment is undertaken. Up to one in 50,000 newborns are afflicted by this dangerous disorder.
Dana-Farber/Boston Children's Cancer and Blood Disorders Center researchers examined treatments for the deadly disorder to see which procedures led to the greatest survival rates. They also looked at the use of chemotherapy to condition patients prior to treatment.
Hematopoietic stem cell transplants, done as soon as possible after birth, were found to be the most effective intervention currently possible for the young victims. This type of stem cell is found in bone marrow, and produce all other forms of blood cells.
Researchers studied 240 infants who were provided with the procedure between the years 2000 and 2009. The United States Department of Health and Human Services recommended routine screening of infants for the disorder the following year.
Infants without infections were found to be most responsive to the transplants.
"Survival is much, much better if infants undergo transplant before they turn three-and-a-half months old and before they contract any SCID-related infections. The best way to identify patients that early when there is no family history of SCID is through newborn screening," Sung-Yun Pai of Dana-Farber/Boston Children's said.
A total of 21 states currently screen newborn babies for SCID, along with the District of Columbia. Nine additional starts will begin testing by the end of the year. Researchers in this study stated that screenings are the most reliable way of determining those who need transplants before infection takes hold.
Children older than three-and-a-half months had high survival rates, as long as they were not suffering from an infection. Siblings provided the best match for the hematopoietic stem cell transplants, as is often the case with similar procedures.
During the decade of cases examined, 74 percent of the 240 infants studied survived to their fifth birthday. Those who underwent the procedure while less than three-and-a-half months old had a 94 percent survival rate. Nine out of ten infants who never suffered an infection survived to age five, as did 82 percent of those who were cleared of their infection.
Just between 39 and 53 percent of babies older than the critical age who had active infections lived for half a decade. Those young patients fortunate enough to receive a transplant from a matched sibling enjoyed a 97 percent survival rate.
Study of treatment methods provided to infants with SCID was profiled in the New England Journal of Medicine.
