Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1

January 10, 2012

Purpose

This study will evaluate the safety and effectiveness of insulin-like growth factor-1 (IGF-1) to treat patients with X-linked severe combined immunodeficiency (XSCID). Those who have XSCID lack white blood cells that protect their bodies from invasion by all types of germs. IGF-1 is the main hormone responsible for the body’s growth and metabolism. As a medication, IGF-1 is Increlex[(Trademark)] (mecasermin),

Patients ages 2 to 20 who have not yet begun puberty, have a diagnosis of XSCID, and are shorter than the 3rd percentile for their age may be eligible for this study. This study will last about 3 years, and patients’ visits will be scheduled at 3-month intervals. Patients will have a physical history and exam, X-rays, electrocardiogram, blood tests, and body measurements.

Patients will take estradiol orally for 2 days, to help avoid false results of growth hormone (GH) levels in blood samples. Then provocation testing is done, with two tests back to back. It determines blood levels of GH and the body’s response to testing with drugs called arginine and clonidine. Patients are admitted to the pediatric inpatient unit and will have an intravenous (IV) line placed in the arm. Arginine is given by IV over 30 minutes, and blood samples are taken. Right after arginine testing, the clonidine tablet is given. The IGF-1 generation test is then done to see if the body makes IGF-1 as a product in response to injections of GH for 5 consecutive days. This test does not require that patients are inpatients, but after Day 8, patients must be admitted to the pediatric unit to have blood sampling, start Increlex injections, and start close monitoring of blood sugar levels. They will learn how to do a self-injection and follow other advice. They will complete records about the injection site, symptoms, and side effects-keeping records for at least the first 2 days after going home, with each dose change, and as needed. Patients stick their fingertip and place a small drop of blood on a blood sugar monitoring strip. The strip is put into a glucometer-a small hand-held device to measure the blood sugar level. Patients will be instructed to always have a source of sugar available in case blood sugar is too low.

linkback url: http://clinicaltrials.gov/ct2/show/NCT00490100?term=xscid&rank=1


LISA MAYORGA: Thankful for early warning

September 17, 2011

LISA MAYORGA: Thankful for early warning

By Lisa Mayorga

Saturday, Sep. 17, 2011 | 12:00 AM Modified Fri, Sep 16, 2011 03:15 PM

My granddaughter, Annalou Bojorquez, was born at Clovis Community Hospital on Oct. 9, 2010, with an often fatal immune deficiency called Severe Combined Immunodeficiency or SCID.

At birth, Annalou weighed 7 pounds, 1 ounce, and appeared to be a healthy baby. Prior to leaving the hospital, she underwent all newborn screening tests that were made available to her.

In early November, my daughter, Elena, received a phone call from Annalou’s pediatrician, Dr. Harish Saigal, informing her that Annalou’s test resulted in an abnormal reading. He requested a second test be performed to rule out any abnormalities.

On Nov. 11, Dr. Saigal informed us that the second test resulted in a diagnosis of an immune deficiency called SCID. Annalou was the very first child in California to be diagnosed with an immune deficiency based on the newborn screening pilot program for SCID initiated in August 2010.

Dr. Saigal said she would require a bone marrow transplant and would be treated at the University of California at San Francisco. Her condition was life-threatening and it was imperative that she be isolated, free from contact of common infections that could be fatal for her.

At UCSF, we met Dr. Jennifer Puck who, along with the bone marrow transplant team, would treat Annalou’s condition. With Elena as the donor, Annalou received her BMT on Dec. 9, and IvIG treatments to help build antibodies in developing her own immune system.

In February, Annalou was discharged from UCSF. However, she was to remain isolated at home and received her treatments every three weeks at UCSF. Eventually, she was released from isolation, but we continued her care very cautiously.

In June, Elena received a call from UCSF informing her that Annalou’s treatment had been successful. Her “B” cells were fully functioning and no longer needed treatment. Annalou was totally “SCID free” at age 6 months.

Overwhelmed with joy, we cried, laughed and celebrated in thanksgiving for an answered prayer.

Sacramento Assembly member and pediatrician Dr. Richard Pan has written Assembly Bill 395 to make the SCID screening pilot program that saved Annalou a permanent part of California’s newborn screening process. We hope Gov. Jerry Brown signs AB 395 into law so that all California babies are protected from SCID.

Our experience with Annalou’s diagnosis has been informative yet gratifying to know that we owe her early diagnosis to the newborn screening. Had we not been informed so early in her life, it could have been fatal. We learned that children with SCID generally do not live past 1 year.

In addition, I am proud of the brave young mother Elena has become, by giving so unselfishly to her daughter. She is a great mom and they will share a close bond that will forever embrace them.

We are so very thankful to everyone who contributed to the wonderful care Annalou received at UCSF including Dr. Puck, Dr. Mortan Cowan, Dr. Christopher Dvorak, Dr. Biijana Horn, our social workers (Xin-Huan Chen, Amanda Kice, Anu Sood) and the awesome nursing staffs of the PCRC and BMT units.

Thanks also to the San Francisco Ronald McDonald and Family House of San Francisco for providing us with housing, moral support and friendship, to the March of Dimes for providing us with knowledge and a voice to tell our story, and most of all to our family and friends who have provided us with the love, support and many prayers that helped us get through the difficult time.

This cooperation has helped protect my family and I am hopeful the governor will sign AB 395 into law so that expanded newborn screening can help give more California newborns a healthier start to life.

linkback url: http://www.fresnobee.com/2011/09/16/2541339/lisa-mayorga-thankful-for-early.html


‘It was a miracle': Toddler saved by cord blood transplant in S.A. .

September 12, 2011

‘It was a miracle': Toddler saved by cord blood transplant in S.A. .

by Wendy Rigby / KENS 5

Posted on September 12, 2011 at 11:23 AM

SAN ANTONIO — Her parents call her their “miracle child.” A South Texas baby has a second chance at life thanks to a successful cord blood transplant in San Antonio.

At 10 months old, Valentina DeLeon’s parents knew there was a problem. She weighed only 13 pounds. She was a sickly child with a frightening diagnosis: severe combined immunodeficiency (SCID). It’s a rare disorder made famous by the so-called “Bubble Boy” in the 1970s.

“She was super skinny,” recalled Valentina’s mother, Karina Chapa. “She was sick all the time. She was vomiting. She was throwing up all the time. She wasn’t eating.”

The child’s Rio Grande Valley doctors sent her to Methodist Children’s Hospital in San Antonio.

Dr. Ka Wah Chan ordered high-dose chemotherapy for Valentina and then a cord blood transplant.

Donated cord blood from a stranger turned out to be a match for this baby in need. The cells helped create a new, stronger, normal immune system for a girl who faced a grim diagnosis without it.

“The cord blood is thrown away anyway,” Chan explained. “Nobody saves cord blood. But it can be used. And it can particularly be used in this type of situation when you can do a transplant and save a life.”

Today, five months after transplant, Valentina weighs more than 9 kilograms. That’s 21 pounds. Her doctors are cautiously optimistic about her long-term prognosis.

Valentina’s parents are finally able to take her home to the Valley. They’re grateful to the woman who donated a by-product of birth that used to be considered medical waste.

“It’s changed her life and it was a miracle,” Chapa said. “She’s alive and she’s healthy and I’m just thankful. Very thankful.”

Until recent years, this immune disorder was almost always fatal. Valentina’s mother said every day her daughter is alive is a celebration.

 

linkback url: http://www.kens5.com/news/health/Cord-blood-transplant-helps-save-South-Texas-girl-129658778.html


Gene therapy works for ‘Bubble Boy’ disease

August 24, 2011

Gene therapy works for ‘Bubble Boy’ disease

(WebMD)

Nine years after getting gene therapy for a rare, inherited immune system disorder often called “bubble boy disease,” 14 out of 16 children are doing well, researchers report.

The children were born with severe combined immunodeficiency disease (SCID). They got an experimental gene therapy in the U.K.

A new report shows that nine years later, 14 of the 16 children had working immune systems and were leading normal lives.

“These children, who would have died very young without treatment, are participating in life as fully as their brothers and sisters,” researcher H. Bobby Gaspar, MD, PhD, tells WebMD. “Most of them are going to school, playing ball, and going to parties.”

Few Treatment Options for SCID

Children with SCID carry genetic defects that prevent their immune systems from working. Without treatment, most die from infection in their first two years of life.

One exception was David Vetter, a Texas boy born in 1971. Vetter lived in a specially constructed sterile plastic bubble from birth until his death at age 12. He became famous as the “bubble boy,” and his story made many people aware of SCID for the first time.

For decades, the treatment has been to get transplants of blood-forming stem cells from the bone marrow of matched siblings or other donors who have healthy immune systems.

Such transplants can effectively cure the disorder. But only about one in five children with SCID have a perfectly matched donor.

Bone marrow from partially matched donors can also be used. But those mismatched transplants are much more risky. About one in three children who have them die from the procedure.

About a decade ago, researchers discovered a way to manipulate a patient’s own genes to manufacture the missing part of the gene needed to make the immune system work.

Since that time, gene therapy has been used to treat dozens of children with SCID, says UCLA researcher Donald B. Kohn, MD, who did not participate in the U.K. study.

How the Children Fared

“The big picture here is that almost 10 years down the line, all of these children are alive and 14 of 16 have been able to correct their immune systems,” Gaspar says. “With [mismatched] transplants, we would have lost two to four of them.”

The 16 children with SCID who got the gene therapy ranged in age from 6 months to 3 years. Four of them had the ADA-deficiency type of SCID. The other kids had the X1 form of SCID. Those are the two most common types of SCID.

For most of the children, gene therapy was a success. But one boy who had the X1 form of SCID developed treatment-related leukemia. The complication was not unexpected, Gaspar says, because four children with the X1 from of SCID in a French study had developed leukemia after getting the gene therapy.

Gaspar says researchers learned from those cases and have modified the treatment in hopes of reducing the risk for patients with the X1 form of the disorder.

Kohn says gene therapy should be considered the treatment of choice for children with ADA-deficient SCID who do not have perfect bone marrow donor matches. It may prove to be a better choice for patients with perfect donor matches, too, he says.

As for the X1 form of the disease, Kohn says it remains to be seen if the new approach to gene delivery works and has less risk of leukemia.

Lessons learned from the SCID trials have spurred studies to find effective gene-based treatments for other blood cell diseases, including sickle cell anemia, Kohn notes.

“The history of gene therapy research can be summarized as, ‘Two steps forward and one step back.’ We retrench, we learn, and then we move forward again,” he says.

“Twenty years ago, nothing was working,” Kohn says. “Ten years ago, these treatments started to work, but with complications. The hope is that the next decade will bring highly effective treatments with few complications.”

By Salynn Boyles

Reviewed by Laura J. Martin, MD

 

linkback url: http://www.cbsnews.com/stories/2011/08/24/health/webmd/main20096859.shtml


‘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

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