‘Bubble Boy’ Kids Living Normally After Gene Therapy: Study

August 24, 2011

‘Bubble Boy’ Kids Living Normally After Gene Therapy: Study

By Amanda Gardner
HealthDay Reporter

WEDNESDAY, Aug. 24 (HealthDay News) — More than a dozen children with so-called “bubble boy” disease are alive and well, with functioning immune systems, nine years after undergoing gene therapy to correct their disorder, researchers report.

Most of the patients attend school with other children, something that probably would have been fatal without treatment.

“The promise of gene therapy is being fulfilled, at least for these diseases, where a number of patients are walking around in good health because they had gene therapy,” said Dr. Donald Kohn, professor of microbiology, immunology and molecular genetics and pediatrics at the University of California, Los Angeles.

The disorder — severe combined immunodeficiency (SCID) — compromises the immune system so severely that children can’t fight off normally innocuous infections. The condition is rare, and the term “bubble boy” was coined after a Texas boy with the condition lived in a germ-free plastic bubble.

Only boys inherit the gene in question, and many born with SCID die in infancy.

Two studies published Aug. 24 in Science Translational Medicine detail the results of the gene-modifying treatment. Kohn wrote a perspective piece accompanying the studies.

Traditionally, the only treatment for SCID was stem cell transplantation in which immune cells from a matching donor are transferred to the patient. But it’s difficult to find matching donors and, even then, the patient’s body may reject the transplanted cells.

With gene therapy, clinicians remove the patient’s own bone marrow, isolate the stem cells, correct the gene and reinsert it into the patient, explained William J. Bowers, associate professor of neurology at the University of Rochester Medical Center in Rochester, N.Y.

The two current papers detail the success of gene therapy in two groups of patients: 10 boys with X-linked SCID (SCID-X1); and six with ADA-SCID, which involves a slightly different gene mutation. All were between 6 months and 39 months old.

Gene therapy successfully treated four of the six ADA-SCID patients.

All the SCID-X1 children recovered, although one developed leukemia. That boy is currently in remission, but leukemia has been a problem with previous gene therapy trials.

Last year, French researchers reported that eight of nine male infants born with SCID-X1 had recovered as a result of gene therapy. Unfortunately, almost half developed acute leukemia, one of whom died.

The virus vector used in this earlier trial inadvertently activated an oncogene, which led to the development of the leukemia, researchers said.

The latest research circumvented this problem by using a different virus vector.

“A cloud was thrown over the field several years ago and they’ve solved it nicely,” said Dr. Darwin Prockop, director of the Texas A&M Health Science Center College of Medicine Institute for Regenerative Medicine at Scott & White in Temple, Texas. “Very probably this can be used for other genetic diseases.”

“This field came on with huge promise, then hit a few bumps and now . . . we’re starting to see more and more of these successes,” added Bowers.

linkback url: http://health.usnews.com/health-news/managing-your-healthcare/genetics/articles/2011/08/24/bubble-boy-kids-living-normally-after-gene-therapy-study


Help by signing the petition

July 29, 2011

Governor Scott in Florida line item vetoed SCID Newborn Screening, even though the Newborn Screening Committee for Florida voted unanimously to start screening.  Let’s tell Governor Scott he was wrong.  You do not need to be a Florida resident to sign the petition.

CLICK NOW  to sign!

CS Mother Pushing for SCID Screening in Texas

July 28, 2011
CS Mother Pushing for SCID Screening in Texas

Having a child is one of life’s greatest gifts. But, imagine having that gift taken away after only nine months.

That’s what happened to one College Station family.

Their seemingly healthy baby boy died in March from a disease rarely diagnosed, but treatable.

Now his mother is on a mission to raise awareness and save babies lives.

“He was just a really sweet, sweet little baby,” mother Jennifer Garcia said.

For the first seven months of life her son Cameron was perfectly healthy, but then he got a cold that didn’t go away.

“They noticed he sounded a little wheezy and of course immediately you think the head cold has just settled in his chest,” Garcia said.

Doctors diagnosed him with pneumonia and when it didn’t get better he was taken to Houston. After three weeks of tests doctors determined he had Severe Combined Immunodeficiency or SCID also known as the Bubble Boy Disease.

Cameron couldn’t develop a normal immune system and two weeks later he was gone.

“We had to literally make the decision what do we do from here,” Garcia said. “We had to hold him and take him off the ventilator and it was a very hard decision that no parent should ever have to make.”

SCID can occur in about one in 40,000 newborns. Although rare, if identified early, babies like Cameron can be treated with a bone marrow transplant.

“These kids can get cured, they can live a normal life,” Dr. Susan Pacheco with the University of Texas-Houston Medical School said.

Pacheco is the Houston immunologist who diagnosed Cameron.

“This is a fatal disease if it goes untreated and the outcome for after a transplant is much higher the early that you diagnose and the sooner that you treat,” Pacheco said.

A simple blood test at birth, costing between $5 and $7 dollars, determines if a newborn has SCID.

But the problem is, the test is not part of the Texas newborn screening panel. Cameron wasn’t tested at birth.

Jennifer is fighting to change that.

“I feel like I left the hospital running out the door saying how could this happen and I don’t want this to happen to another baby in Texas,” Garcia said.

Jennifer is one of many working on getting SCID added to the list of screening tests all Texas newborns are recommended to get. Five states currently test for the disease.

Florida’s governor like others in the past recently vetoed a bill, citing economic reasons.

“When you want to talk about money. Cameron’s medical bills came to almost one million dollars. How many babies could you have screened for a million dollars,” Garcia said.

Jennifer says she won’t give up until all babies are given a chance at survival. A chance Cameron did not get.

An opt-in pilot program is being conducted in Texas and the College Station Medical Center is on board. Starting in the fall or winter, the College Station hospital will start testing babies for SCID.

The Texas Department of State Health Services is conducting the pilot program. Results will help determine the best way to test for SCID when funding is available to add it to the Texas newborn screening panel.

Jennifer is also working with local lawmakers, hoping one will carry legislation into the next legislative session.

Click here to learn more about Texas pilot program

Click here to learn more about Texas pilot program

Click here for more information on SCID

Click here for more information on SCID

If you have any questions for Jennifer Garcia, you can reach her at cameroncrusade@yahoo.com.

linkback url: http://www.kbtx.com/home/headlines/CS_Mother_Pushing_for_SCID_Screening_in_Texas__126366573.html

Pioneering surgery gives Lincolnshire seven-year-old ‘new lease of life’

July 15, 2011

Pioneering surgery gives Lincolnshire seven-year-old ‘new lease of life’


WITH a cheeky smile and bucket-loads of energy, little Toby Booth seems like any other child as he plays at home.

But the 7-year-old has more reason than most to be cheerful following life-changing surgery for a condition that affects only a handful of children in the world.


Toby suffers from Severe Combined Immunodeficiency (SCID), which puts him at risk of life-threatening complications, including organ damage.

His condition is so complex that he has to be monitored by a team of specialist medics at The Children’s Hospital in Sheffield on a weekly basis.

And after his illness caused problems with his gallbladder, doctors carried out surgery to remove it.

Mum Helen Booth, 46, of Saxilby, says the pioneering keyhole surgery, coupled with drug infusions to help him fight infections, have given her son a “new lease of life”.

“With Toby’s condition, it has literally been like the film, Boy In The Bubble,” said Mrs Booth, a full-time mum and carer for Toby.

“Now, he goes to school and lives the life of a normal little boy. We went down to Poole and he went on to the beach and swimming – things that he had never been able to do before.

“This is what we’ve been fighting for, for Toby to have a normal life. You can’t have him go through all of this and then tell him that he can’t live a regular life.

“He’s the most cheerful and happy little boy and he never feels sorry for himself.”

Toby was diagnosed with the genetic condition aged two and has already overcome a series of life-threatening complications.

When he was just 3 years old, he had his spleen removed and a bone marrow transplant.

The recent operation at The Children’s Hospital by consultant paediatric surgeon Sean Marven, is hoped to help prevent further complications.

“Toby made a remarkably fast recovery after his surgery. He was up and about the next morning,” said Mrs Booth.

“We’ve been with the hospital for many years and have always been impressed with the care Toby has received from the whole team.

“He’s a very resilient character and we’re very proud of the way he copes with his condition.”

Mr Marven said: “The advantage of keyhole surgery is that the patient has just a couple of small incisions in their abdomen so they recover far more quickly than if they’d had traditional surgery.

“The next morning, Toby was out of bed and running around. We’ve only done a couple of gallbladder operations like this so far and they’ve all been highly successful.

“We like to be able to offer our patients the fastest and most reliable operations which get them back on their feet fast and have fewer risks.”

linkback url: http://www.thisislincolnshire.co.uk/Pioneering-surgery-gives-Lincolnshire-seven-year/story-13135004-detail/story.html

Family pushing for SCID screening

June 8, 2011

Family pushing for SCID screening


ORLANDO, Fla. (WOFL FOX 35) – A family continues to grieve over the loss of a newborn child who fell victim to a rare, but treatable, disease.  They are also taking on a cause which they hope will help save the lives of others.

Kyle Harden, who is still devastated by the deathof his daughter Annabelle, says he has yet to wash her clothes because the smell brings comfort and motivation. Little Annabelle died of Severe Combined Immunodeficiency Disease (SCID), also known as the “bubble boy” disease.

It’s a disease that could have been treated with a bone marrow transplant had their baby simply been screened.

“Her little body wasn’t able to fight anything off,” says Annabelle’s mother, Audrey. “Any disease or germ she came into contact with could do its thing.”

Born seemingly healthy in September of last year, Annabelle began to experience lots of vomiting and reflux beginning four months later. In February of this year, doctors diagnosed with her SCID. She then died six days later of pneumonia and heart failure. Her immune system was useless.

“I was like, ‘Why my baby? Why? Why us? I don’t understand,'” Audrey says.

Now this family is on a mission, along with other families who have lost children. SCID is one of the most treatable of all conditions when screened detected; however, Governor Rick Scott has vetoed the SCID testing newborn screening program, despite the recommendation from the state’s Newborn Screening Advisory Committee that SCID be added to the newborn screening panel.

“I don’t have a daughter, simply because she wasn’t screened for SCID,” says Kyle. “It might be easy to say one in 35,000 isn’t a lot. Until it happens to you, you don’t realize how helpless you really are.”

The Hardens are encouraging others to write the governor to protest his decision. They also have a goal to have Newborn Screening for SCID passed in ALL 50 states. For more information, click on www.SCIDangelsforlife.com .


linkback url: http://www.myfoxorlando.com/dpp/health/060311-family-pushing-for-scid-screening

Newborn Screening for Deadly Immune Disorder SCID Possible Due to UCSF Research

March 21, 2011

Newborn Screening for Deadly Immune Disorder SCID Possible Due to UCSF Research

By Jeffrey Norris on March 21, 2011

Since last August, all newborns in California have been screened for a deadly immune disorder as part of a pilot program, but a newly introduced state assembly bill would make this screening routine.

About a dozen infants are born in California each year with the disease, called severe combined immunodeficiency (SCID). Screening enables the diagnosis and treatment of stricken infants before infections kill them.

At a Feb. 14 press conference that included UCSF pediatrician Jennifer Puck, MD – as well as one of her young SCID patients and the patient’s mother – California Assemblyman Richard Pan, MD, (D-Sacramento) announced the introduction of the bill, AB 395.

In May 2010, US Secretary of Health and Human Services Kathleen Sebelius endorsed the recommendation of a federal advisory committee and called for the inclusion of SCID testing in newborn screening panels. California, with 10 percent of the country’s newborns, began its pilot program began within three months of that endorsement. Prior to 2010, Wisconsin and Massachusetts began screening newborns for SCID on a trial basis.

Puck, from the Department of Pediatrics and the Clinical and Translational Science Institute at UCSF, had nominated SCID for inclusion in the newborn screening disease panel. She submitted evidence to the federal advisory committee from her research on the cost effectiveness of screening, and from the screening method she pioneered in 2005. Puck’s method, now adapted to large-scale screening by state laboratories, uses the same sample – dried blood spotted onto filter paper – already used for other newborn screening tests.

The California Department of Public Health has already demonstrated its effectiveness.

“I think we are picking up babies who would have been missed, and I know we are picking them up earlier,” Puck says. “The incidence of SCID in California based on the statewide pilot study is about one in 35,000 births, which is more common than our estimates before we started screening.” The pilot program has been funded by a combination of grants, philanthropy and development funds. The legislation proposed by Pan would establish a policy of routine screening.
Crippled Immune Systems

Babies born with SCID lack the immune cells known as lymphocytes. Lymphocytes are the advanced fighting forces of the immune system. Each lymphocyte targets a specific disease pathogen. There are lymphocytes for essentially any infection one might encounter. Infants with SCID often die from infections, including some that rarely afflict babies with healthy immune systems.

All cases of SCID are due to mutations in immune system genes. Most cases arise sporadically. Babies born with SCID appear normal, and initially are protected by antibodies transferred from their mothers. The antibodies help fight infections in all infants during the first months of life as a baby’s immune system matures.

Healthy babies come down with infections as their immunity is being built up, Puck says, but babies born with SCID cannot handle their infections adequately. Eventually parents and doctors may notice that infections are more frequent and persist longer than usual. However, SCID is rare, so accurate diagnosis and treatment may be delayed until it is too late.

“There’s a good reason to screen for SCID,” Puck says. “It’s treatable if you find it early, and treatment is much more successful if you do it early rather than late.” Infections can be fatal before or after diagnosis. Without screening, four out of five cases of SCID are identified only after an infant begins to suffer from severe infections, Puck says. “By the time babies are diagnosed they often are in very serious trouble,” she says.
Cleverly Designed, Simple Lab Test

Puck has a long history of SCID discoveries. In the 1990s her group was one of two that identified the gene that causes the most common form of the disease, called X-linked SCID, which affects only boys. Although there are many different genetic causes of SCID, the cost-effective test developed by Puck is not limited to detecting only one or a few of them. Instead it detects evidence pointing to a lack of lymphocytes.

Lymphocytes make receptors keyed to unique molecules made by foreign disease agents. The receptors appear on the outside surfaces of T lymphocytes. They also are secreted by B lymphocytes as antibodies. To generate a sufficient repertoire of receptors, lymphocytes have to recombine bits of DNA to generate unique gene combinations that encode receptors for each unique pathogen the body might encounter.

To accomplish this task the developing lymphocyte splices together components from distinct receptor-gene regions. Each region contains many choices from which to select, but only one module is used from each. The number of unique receptors – and uniquely targeted lymphocytes – that can be generated by these recombinations is immense.

The leftover pieces of DNA that are cut out of the chromosome, but that are not used in the lymphoctye’s finished receptor gene, are joined together to form a circle. This circular DNA is stable, because the enzymes that chew up DNA work from free ends of linear DNA strands. “We know these circles are hanging around and can be counted,” Puck says. “I thought we could figure out a way to count them in dried blood spots.”

Puck used a standard laboratory technique called the polymerase chain reaction (PCR) to amplify and detect the circular DNA that had been isolated from the filter spots already obtained for screening for other newborn disorders. To drive amplification and detection she used primers with DNA sequences matching the DNA that spans the joint where the ends of unused linear strands of DNA have come together to form a circle. With this PCR test the circles are easily detected in dried blood spots from babies with normal lymphocytes.

When the screening test fails to detect the circles, follow up begins with more thorough blood tests and referral to an immunologist with SCID expertise. Tests are available that can identify specific genetic causes of the disease. “Different genetic causes of SCID call for different treatment approaches,” Puck says. Babies with SCID often receive a bone marrow transplant to reconstitute a healthy immune system. UCSF is among the transplant centers with expertise in performing transplants for immune deficiencies, Puck notes.

SCID still is sometimes referred to as Bubble Boy disease, in reference to David Vetter, who was placed in a germ-free enclosure at birth after his parents had lost their first son to SCID. His ordeal was covered by the news media, and his life became the subject of a made-for-TV movie. He died of an infection at age 12 in 1984. Vetter had recently received a bone marrow transplant, which had not yet restored his immune function.

linkback url: http://www.ucsf.edu/news/2011/03/9558/newborn-screening-deadly-immune-disorder-scid-possible-due-ucsf-research

Simple newborn test developed to detect ‘bubble boy disease’

March 18, 2011

Simple newborn test developed to
detect ‘bubble boy disease’

By ERIN ALLDAY, San Francisco Chronicle

Last update: March 18, 2011 – 9:34 PM

SAN FRANCISCO – University of California at
San Francisco doctors have developed a test
that, using just a drop of blood taken within
hours of a baby’s birth, can determine
whether the child has a rare but potentially
fatal immune deficiency disorder known as
“bubble boy disease.”

Without treatment for severe combined
immunodeficiency disorder (SCID), most
babies die from infection when they’re
months old. If they survive, they’re often
destined to a life in isolation. The disease was
made famous by a Texas boy who lived most
of his 12 years in large, plastic bubbles to
protect him from infection. He died in 1984.

If the disease is diagnosed within weeks of
birth, doctors can perform a bone marrow
transplant that will let the baby grow a new
immune system to replace the faulty one, and
essentially cure the disease. That’s why
doctors are trying to get the test added to the
state’s newborn screening program, a move
that will require legislative approval. A vote is

expected this summer.

“Some other states are getting on board, and
they may be doing it kicking and screaming,
because they don’t have an extra dime to
spend. But it’s so important from a medical
point of view, and we believe it’ll be cost-
effective,” said Dr. Jennifer Puck, a pediatric i
mmunologist with UCSF Benioff Children’s
Hospital who developed the screening test.
“These babies, when they come in with
infections, they have a $1 million hospital bill
before they even get the transplant,” she said.
“With screening, we’ll get useful, healthy

In many states, including Minnesota, blood is
drawn from newborns hours after birth to
screen for more than two dozen types of
diseases, including sickle cell anemia and
phenylketonuria, or PKU, a metabolic
disorder that can cause mental disabilities.

Diseases are screened only if they can be
treated, and only if it’s important that
treatment be started as early as possible to
avoid permanent damage or death. In the
case of SCID, it’s crucial that babies get a
diagnosis before they’re exposed to even the
tamest virus — the common cold can be
deadly to them. In fact, an infant vaccine for
the rotovirus includes a weak but live virus

link back url: http://www.startribune.com/nation/118277034.html

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