Secretary of Health and Human Services Announces Addition of SCID to National Newborn Screening Standards

May 25, 2010

Secretary of Health and Human Services Announces Addition of SCID to National Newborn Screening Standards

TOWSON, Md., May 25 /PRNewswire/ — On May 21, 2010, Kathleen Sebelius, Secretary of Health and Human Services (HHS) announced the addition of Severe Combined Immunodeficiency (SCID) — commonly known as bubble boy disease — to the core panel of 29 genetic disorders — as part of her recommendation to adopt the national Recommended Uniform Screening Panel.  The Secretary made her announcement in a letter to Dr. Rodney Howell, Chair of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC). SCID is the first nominated condition to be added to the core panel of disorders.

SCID is a primary immunodeficiency disease.  Affected infants lack T lymphocytes, the white blood cells that help resist infections due to a wide array of viruses, bacteria and fungi.  Babies with SCID appear healthy at birth, but without early treatment, most often by bone marrow transplant from a healthy donor, these infants cannot survive.

The Immune Deficiency Foundation (IDF), the national patient organization for persons with primary immunodeficiency diseases, applauds the action by Secretary Sebelius for including SCID in the new national standards.  “The addition of SCID to the national newborn screening standards is a momentous step forward for the primary immunodeficiency community,” said Marcia Boyle, President & Founder of IDF.  “The IDF has strongly supported and worked tirelessly toward this goal for years.  It is imperative that we sustain this momentum by establishing newborn screening programs in all 50 states.”

“Although this recommendation has been in development for two years,” said Dr. Amy Brower, parent, researcher and former SACHDNC committee member, “it may take several more years to implement screening in all 50 states and US territories.  We must work to quickly implement the widespread adoption of testing and treatment in all of the states.”

“As the parent of a child who was diagnosed with SCID only after he became critically ill,” said Barb Ballard, a member of the IDF Board of Trustees, “I am immensely pleased with the action taken by Secretary Sebelius.”

“Our goal is to have Newborn Screening for SCID passed in all 50 states,” said Heather Smith, co-founder of SCID Angels for Life, who lost her six-month-old son, Brandon, to this devastating disease.

For more information, please contact IDF at 800-296-4433, or  Or visit the IDF website at

SOURCE Immune Deficiency Foundation

Back to top




Gene Therapy Plus Chemotherapy Ups Odds for Success in Treating ‘Bubble Boy’ Disease

May 24, 2010

Gene Therapy Plus Chemotherapy Ups Odds for Success in Treating ‘Bubble Boy’ Disease

ScienceDaily (May 24, 2010) — Gene therapy combined with chemotherapy may lead to immune system improvement in patients with bubble boy disease, according to a study to be presented at the American Society of Gene & Cell Therapy 13th Annual Meeting.

Beginning in 2001, researchers from the University of California Los Angeles and the National Human Genome Research Institute, a division of the National Institutes of Health, treated 10 patients with adenosine deaminase severe combined immunodeficiency (ADA-SCID), commonly referred to as bubble boy disease.

Four patients received ongoing enzyme replacement while six patients had their enzyme replacement therapy stopped and received low doses of chemotherapy, which reduces bone marrow density to create room for the transplanted cells to multiply. Fifty percent of the latter group demonstrated a restored immune response that parallels normal levels. The remaining patients show some independent production of the adenosine deaminase enzyme, but not enough to elicit independent immune responses.

“This trial extends prior findings and shows that ADA gene transfer can lead to restoration of a functionally protective immune system,” said Donald Kohn, MD, the clinical trial sponsor and principal investigator at UCLA. “Because our trial was done in two phases, we can directly compare the effects of these approaches and show that withholding the enzyme and giving pre-transplant chemotherapy is markedly more effective.”

Patients with ADA-SCID lack the enzyme adenosine deaminase and, as a result, have little or no immune system, leaving them vulnerable to infection and illness. ADA-SCID is one of the most promising conditions for treatment with gene therapy and has been the source of early successes in the field. Earlier trials in London and Milan have also showed restored immunity in patients treated with the gene therapy protocol.

A Phase II trial on the treatment is underway; three patients have been treated thus far. Research also continues into more efficient vectors for gene transfer, which scientists hope will result in a quicker, more robust immune response.

linkback url:

Gene Therapy Might Treat ‘Bubble Boy’ Disease

May 21, 2010

Gene Therapy Might Treat ‘Bubble Boy’ Disease

By Randy Dotinga
HealthDay Reporter by Randy Dotinga
healthday Reporter Fri May 21, 7:09 pm ET

FRIDAY, May 21 (HealthDay News) — Scientists report that they’ve successfully used gene therapy to treat a small number of patients with the condition known as “bubble boy” disease, which robs children of the ability to fight off germs.

The research is preliminary, and another phase of testing is needed before the therapy can get federal approval. Also, the treatment only appears to work in patients with a particular strain of the disease.

Even so, the findings highlight the fact that the disease is becoming easier to treat and the prognosis is improving for these children, said lead investigator Dr. Donald B. Kohn.

“We’re talking about 70 to 90 percent surviving and doing well, and we’re hoping to get that even higher as gene therapy gets more effective,” said Kohn, a pediatric bone-marrow transplant doctor at the University of California at Los Angeles David Geffen School of Medicine.

When they’re born, babies have natural resistance to disease, thanks to immunity that they inherit from their mothers. Over time, if things go well, they develop immune systems of their own. But in some cases the immune systems don’t develop properly and the children become especially vulnerable to disease.

The condition is rare, but it became widely known in the 1980s because of the case of the “Bubble Boy,” a child named David Vetter who lived in a plastic bubble to avoid being infected by germs. He died at the age of 12, and his treatment remains controversial to this day.

Currently, children with the different types of the immune deficiency condition are treated with stem-cell transplants and gene therapy.

In the new study, researchers treated 10 children who had a form of the condition called adenosine deaminase severe combined immunodeficiency that affects 20 percent of those with bubble boy disease.

Researchers, who began the study in 2001, assigned four patients to receive regular treatment with enzyme replacement therapy. Another six stopped that therapy and received chemotherapy designed to create room in their bone marrow for transplanted cells.

“It would be like if you’re in a garden with a high density of plants, and you want to put some new plants in. The best chance for them to grow would be to remove some of the old plants,” explained Dr. Mark Kay, head of the gene therapy program at Stanford University School of Medicine.

Researchers hoped the transplanted cells would create a new immune system and, in half of the six patients, they did just that.

The treatment gives the patients a “key missing piece of genetic information” so their bodies can create a normal immune system, Kohn said. And the cells come from the patient’s own body so there should be less risk that the body will reject the cells or vice versa, he explained.

The study results came in a phase 1 trial, the first of three study phases that treatments must undergo to get federal approval. The second phase of research has already begun.

The treatment is costly, Kohn noted, requiring months of hospitalization.

Kay said the gene therapy treatment may become the standard way to treat bubble boy disease. It could, he said, allow children to undergo just one treatment — a “lifelong cure” — instead of repeatedly taking the enzyme treatment.

The study is scheduled to be released Friday at the annual meeting of the American Society of Gene & Cell Therapy, in Washington D.C.

More information

The Nemours Foundation has more about immune deficiency.

linkback url:

FDA says Healthcare Providers Can Resume Use of Rotarix (Rotavirus Vaccine, Live, Oral)

May 14, 2010

Children should be screened for SCID BEFORE being given this LIVE vaccine!!!

FDA says Healthcare Providers Can Resume Use of Rotarix (Rotavirus Vaccine, Live, Oral)

Press Release Source: GlaxoSmithKline On Friday May 14, 2010, 3:51 pm EDT

PHILADELPHIA, May 14 /PRNewswire-FirstCall/ — GlaxoSmithKline (NYSE:GSKNews) announced that the Food and Drug Administration (FDA) has determined that U.S. healthcare practitioners can resume the use of Rotarix® (Rotavirus Vaccine, Live, Oral), effective immediately. This action supersedes the FDA’s recommendation from March 22, 2010 and reflects the agency’s assessment that the presence of porcine circovirus type 1 (PCV-1) in the vaccine poses no safety risk.

The FDA stated that the benefits of rotavirus vaccination are substantial, and include prevention of death in some parts of the world and hospitalization for severe rotavirus disease in the United States. The FDA further concluded that these benefits outweigh the risk, which is theoretical.

Barbara Howe, MD, Vice President, Director, North American Vaccine Development, GlaxoSmithKline stated: “We appreciate the swift and thorough review conducted by both the FDA and an expert advisory committee into the recent findings related to PCV-1 and the benefit/risk profile of Rotarix. We will continue to work with the FDA and other regulatory authorities on next steps as we maintain our commitment to helping protect infants from rotavirus disease in the U.S. and around the world.”

Notes to Editors

About PCV-1

Porcine circovirus 1 (PCV-1) is a small circular virus composed of a single strand of DNA. According to scientific literature, PCV-1 is a common virus that has been found in pork products. This is consistent with the body of literature that has not shown any evidence of PCV-1 infection in humans, or any other animals, including pigs.

About Rotarix®

Rotarix is a two-dose, orally-administered vaccine that offers protection against rotavirus to infants and children. More than 69 million doses of the vaccine have been distributed globally, with 2.5 million in the United States.

In the U.S., Rotarix is indicated for the prevention of rotavirus gastroenteritis caused by G1 and non-G1 types (G3, G4, and G9). It is approved for use in infants 6 weeks to 24 weeks of age.

The safety profile of Rotarix is based on extensive clinical data from the largest vaccine clinical trial program conducted by GSK, enrolling more than 90,000 participants in Europe, Latin America, Asia, Africa, and the U.S.

Important Safety Information Based on the Rotarix US Prescribing Information

  • In clinical studies, common adverse events were fussiness/irritability, cough/runny nose, fever, loss of appetite, and vomiting.
  • Contraindications include a history of any of the following: Hypersensitivity to any component of the vaccine including latex rubber (contained in the oral applicator), uncorrected congenital malformation of the gastrointestinal tract, or Severe Combined Immunodeficiency Disease (SCID).

  • Administration in infants suffering from acute diarrhea or vomiting should be delayed.
  • Safety and effectiveness in infants with chronic gastrointestinal disorders, or with known primary or secondary immunodeficiencies, have not been evaluated.
  • Vaccination may not provide 100% protection to all recipients.

About Rotavirus

Rotavirus is the leading cause of severe gastroenteritis among children below five years of age and a major disease burden in developing countries. It is estimated that more than half a million children die of rotavirus gastroenteritis each year, a child a minute worldwide. Of these deaths, 90% occur in Asia and Africa. More than 100,000 deaths each year occur in India and sub-Saharan Africa and 35,000 in China. It is predicted that rotavirus vaccination could prevent more than 2 million rotavirus deaths globally over the next decade.

Globally, 25% to 55% of all children under the age of five hospitalized with diarrhoea or acute gastroenteritis are infected with rotavirus.

Before rotavirus vaccination was introduced in the U.S., each year an estimated 2.7 million children younger than five years of age experienced rotavirus disease, resulting in hundreds of thousands of emergency room visits and more than 55,000 hospitalisations.

GlaxoSmithKline Biologicals

GlaxoSmithKline Biologicals (GSK Biologicals), GlaxoSmithKline’s vaccines business, is one of the world’s leading vaccine companies and a leader in innovation. The company is active in the fields of vaccine research, development and production with over 30 vaccines approved for marketing and 20 more in development. For further information please visit

GlaxoSmithKline – one of the world’s leading research-based pharmaceutical and healthcare companies – is committed to improving the quality of human life by enabling people to do more, feel better and live longer.  For further information please visit

linkback url:

%d bloggers like this: