Jeffrey Modell Foundation, Wisconsin State Laboratory of Hygiene and Children's Hospital of Wisconsin Launch Pilot Newborn Screening Program to Detect and Treat 'Bubble Boy Disease'

Jan 16, 2007, 00:00 ET from Children's Hospital of Wisconsin

    MILWAUKEE, Jan. 16 /PRNewswire/ -- Health researchers in Wisconsin
 today announced a first of its kind newborn screening study aimed at
 detecting a rare but often undiagnosed immune system disease that is fatal
 without treatment and believed by some doctors to be responsible for a
 number of unexplained infant deaths.
     The pilot program will be a collaborative effort between the State
 Laboratory of Hygiene at UW-Madison and Children's Hospital of Wisconsin in
 Milwaukee. Using residual blood specimens from Wisconsin's nationally
 recognized newborn screening program, the pilot program will develop the
 protocols to screen all newborns for Severe Combined Immune Deficiency
 disease (SCID), sometimes known as "Bubble Boy Disease." The goal is to
 extend routine screening for SCID to every newborn in Wisconsin, estimated
 at 70,000 annually.
     "Today's highly sophisticated Newborn Screening Programs, such as
 Wisconsin's, where we routinely screen for 47 parameters, as well as the
 technology to screen for SCID, suggest that the time has come to add this
 capability to our country's highly effective programs. We welcome the
 opportunity to partner with the Jeffrey Modell Foundation and Children's
 Hospital to undertake the next important first step," said Ronald H.
 Laessig, PhD, Emeritus Director and Professor of Population Health Sciences
 at the State Laboratory of Hygiene, UW-Madison.
     "SCID can now be cured with a relatively simple bone marrow transplant,
 if diagnosed in the first weeks or months of life. We believe routine
 screening of all newborns will find more SCID babies whose disease in the
 past may have been masqueraded as unexplained deaths in early infancy. If
 their problem had been identified correctly, early on, and treated properly
 through a screening program, those babies might be alive today," said Jack
 Routes, MD, medical director of Allergy and Clinical Immunology at
 Children's Hospital of Wisconsin.
     Working quietly behind the scenes, the Jeffrey Modell Foundation (JMF),
 a world authority on primary immunodeficiency diseases, has spent months
 gathering scientists and public health leaders together to help drive the
 SCID screening initiative. Several other states also are actively
 considering SCID screening programs. JMF and Children's Hospital are
 providing the funding for this pilot.
     "SCID is a pediatric medical emergency nationwide. But we now can
 diagnose SCID with 99 percent accuracy. Once we identify these infants, we
 can treat them with a 95 percent success rate using bone marrow
 transplantation. If we catch it early with a simple blood test, we can cure
 a baby with SCID. If we wait, we will spend millions of dollars on long,
 unneeded hospitalizations that are destined to have a grim outcome," said
 Fred Modell, of New York City, a founder of JMF, along with his wife Vicki.
     JMF, using its own funds and a dedicated network of supporters,
 successfully has rallied leaders in the federal and state governments,
 pediatric medicine and pharmaceutical industry behind its cause. Several
 other states are lined up to follow Wisconsin's lead. They include
 California, Maryland, Massachusetts, Missouri, New York, North Carolina and
 Ohio. Each is now considering similar pilot programs. State public health
 officials convened in Atlanta in November at a workshop addressing newborn
 screening for SCID. The meeting was convened by the U.S. Centers for
 Disease Control and Prevention (CDC) and funded by JMF.
     "With 70,000 births a year in Wisconsin, the data suggests that in 2007
 we will save at least one baby's life in that state alone, thanks to the
 leadership role public officials are taking there. We need this pilot
 program to demonstrate the feasibility of routine testing and ultimately
 early treatment. We will need more federal and state partners and more
 support from across the country if we are going to save more lives," said
 Vicki Modell.
     The Modells lost their son Jeffrey at the age of 15 when he died of
 complications from a primary immunodeficiency disease. There are more than
 140 different primary immunodeficiency diseases caused by an immune system
 that does not function properly. The genetically passed on condition
 affects as many as 1 million Americans, mostly children.
     "The Boy in the Bubble"
     SCID is the most lethal version of all Primary Immunodeficiency
 diseases. It is often called "Boy in Bubble" disease after the movie of the
 same name that starred John Travolta, the true story of a boy with SCID who
 died at age 12 after spending his life in a plastic bubble because he was
 so vulnerable to infection. SCID causes a defect in the white blood cells
 that help protect the body from viruses, bacteria and fungi. Doctors know
 that SCID is the result of a mutation in one of at least 12 genes, and bone
 marrow transplants are presently the best treatment.
     "Fred and Vicki Modell have dedicated their lives to raising awareness
 and improving diagnosis and treatment of primary immunodeficiency diseases
 such as SCID. They have made the JMF an effective, efficient force in
 overcoming numerous obstacles that until now blocked implementation of a
 screening program that could detect this fatal disease," added Dr. Routes
     Obstacles Overcome
     Because of research and dialogue promoted by the Modells and the
 Centers for Disease Control and Prevention, advocates for SCID screening
 have built a groundswell of support and began to resolve issues involving
 parental consent, institutional review board concerns, variability in
 assays in the blood testing used for screening, cost concerns and
 understanding about the availability of new treatment.
     The primary investigators, Dr. Routes and Dr. Laessig are developing
 the laboratory testing protocol to demonstrate the feasibility of routine
 screening. Children's Hospital of Wisconsin will take the lead in diagnosis
 and treatment of potential SCID babies. Once a workable program is
 demonstrated, the investigators foresee a rapid acceptance of routine
 screening and treatment protocols.
     CDC Comments
     "The workshop held last November generated results far beyond anyone's
 expectations. The Jeffrey Modell Foundation identified newborn screening of
 SCID as a primary focus of its efforts and has now created a unique
 federal- state-private collaboration. We are committed to their vision that
 all newborns will be screened for SCID in a system where true cases are
 identified promptly and treated effectively," said Dr. Robert Vogt of the
 Newborn Screening Branch of the CDC Division of Laboratory Sciences.
     SCID Babies Look Normal at First
     "When these babies are first born, they look perfectly normal. They're
 fine until they get sick with very bad infections. Once the baby starts
 developing severe infections and spends lots of time in the hospital,
 medical bills can top $1 million," said Rebecca Buckley, MD, a professor of
 pediatrics and immunology at Duke University School of Medicine, and an
 advocate with the Modells for national screening for SCID who spoke at the
 CDC workshop.
     She said babies usually receive a bone marrow transplant from a parent
 or sibling who can provide stem cells that can develop into healthy blood
 cells in the baby. The baby receives the cells slowly through a syringe.
 She has watched some of the babies she has treated grow up to graduate from
 college, go to medical school or graduate from business school. "I used to
 see these babies die all the time. Now it's just wonderful to be able to
 see them make it and grow up to be normal," she said.
     About Jeffrey Modell Foundation
     The Jeffrey Modell Foundation (JMF) was established in 1987 by Vicki
 and Fred Modell in memory of their son Jeffrey, who died at the age of 15
 of a PI disease. The Foundation is dedicated to early and precise
 diagnosis, meaningful treatments, and ultimately cures of Primary
 Immunodeficiencies. Today there are 32 Jeffrey Modell Research and
 Diagnostic Centers and 120 Referral Centers worldwide. Construction has
 begun for the Jeffrey Modell Immunology Center on the main quad of the
 Harvard Medical School. More information about PI can be found at or by contacting the JMF at (212) 819-0200, or
     About Children's Hospital of Wisconsin
     Children's Hospital of Wisconsin, founded in 1894, is recognized as one
 of the leading pediatric health care centers in the United States and is on
 Child magazine's 10 Best Children's Hospitals list. Children's Hospital is
 the only freestanding Level I Trauma Center in the region that cares
 exclusively for children and adolescents. The hospital has been designated
 a Magnet hospital by the American Nurses Credentialing Center, a national
 honor that recognizes nursing excellence. Children's Hospital is the
 flagship member of Children's Hospital and Health System. Private,
 independent and not-for-profit, the hospital serves children and families
 from Wisconsin, the Upper Peninsula of Michigan, northern Illinois and
     About the Wisconsin State Laboratory of Hygiene
     The State Laboratory of Hygiene is Wisconsin's Public Health
 Laboratory. It is a nationally and internationally recognized leader in the
 field of Newborn Screening. As part of the University of Wisconsin-Madison
 School of Medicine and Public Health, it has played an instrumental role in
 developing many innovations now routine in newborn screening programs. The
 State Laboratory was the first to develop and fully implement routine
 screening for cystic fibrosis coupled with a vigorous and effective
 "pre-crisis" treatment program. Children identified with a "positive" CF
 test are now routinely treated at children's hospitals in Milwaukee and
 Madison. Currently, 35 states have followed the Wisconsin lead and now
 screen for CF.

SOURCE Children's Hospital of Wisconsin