Corporate Banner
Satellite Banner
Stem Cells, Cellular Therapy & Biobanking
>
Scientific Community
 
Become a Member | Sign in
Home>News>This Article
  News
Return

Immune Systems of 'Bubble Babies' Restored by Therapy

Published: Friday, September 14, 2012
Last Updated: Friday, September 14, 2012
Bookmark and Share
UCLA stem cell researchers have found that a gene therapy regimen can safely restore immune systems to children with so-called "bubble boy" disease.

In the 11-year study, researchers were able to test two therapy regimens for 10 children with ADA-deficient severe combined immunodeficiency (SCID), which has come to be known as "bubble boy" disease because some of its victims have been forced to live in sterile environments.
 
During that time, the researchers refined their approach to include a light dose of chemotherapy to help remove many of the blood stem cells in the bone marrow that were not creating the enzyme adenosine deaminase (ADA), which is critical for the production and survival of healthy white blood cells, said study senior Dr. Donald Kohn, a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.
 
The refined gene therapy and chemotherapy regimen proved superior to the other method tested in the study, restoring immune function to three of the six children who received it, said Kohn, who is also a professor of pediatrics and of microbiology, immunology and molecular genetics in UCLA Life Sciences Division. An even further-refined regimen using a different type of virus delivery system will be studied in the next phase of the study, which already has enrolled eight of the 10 patients needed.
 
The study appears Sept. 11 in the advance online issue of the peer-reviewed journal Blood.
 
"We were very happy that in the human trials we were able to see a benefit in the patients after we modified the protocol," Kohn said. "Doctors treating ADA-deficient SCID have had too few options for too long, and we hope this will provide them with an efficient and effective treatment for this devastating disease."
 
Children born with SCID, an inherited immunodeficiency, are generally diagnosed at about 6 months old. They are extremely vulnerable to infectious diseases and don't grow well. Chronic diarrhea, ear infections, recurrent pneumonia and profuse oral candidiasis commonly occur in these children. SCID occurs in about one of every 100,000 births.
 
Currently, the only treatment for ADA-deficient SCID calls for injecting patients twice a week with the necessary enzyme, Kohn said, a lifelong process that is very expensive and often doesn't return the immune system to optimal levels. These patients also can undergo bone marrow transplants from matched siblings, but matches can be very rare.
 
About 15 percent of all SCID patients are ADA-deficient. Kohn and his team used a virus delivery system that he had developed in his lab in the 1990s to restore the gene that produces the missing enzyme necessary for a healthy immune system. To date, about 40 children with SCID have received gene therapy in clinical trials around the world, Kohn said.
 
Two slightly different viral vectors were tested in the study, each modified to deliver healthy ADA genes into the bone marrow cells of the patients so the needed enzyme could be produced and make up for the cells that don't have the gene. Four of the 10 patients in the study remained on their enzyme replacement therapy during the gene therapy study. There were no side effects, but their immune systems were not sufficiently restored, Kohn said.
 
In the next six patients, the enzyme therapy was stopped, and a small dose of chemotherapy was given before starting the gene therapy to deplete the ADA-deficient stem cells in their bone marrow. Of those patients, half had their immune systems restored. The human findings confirmed another study, also published recently in Blood by Kohn and UCLA colleague Dr. Denise Carbonaro-Sarracino, which tested the techniques in parallel, using a mouse model of ADA-deficient SCID.
 
One of Kohn's clinical trial patients enrolled in the first study was a baby boy diagnosed with ADA-deficient SCID at age 10 months. The boy had multiple infections, pneumonia and persistent diarrhea and was not able to gain weight. He received the enzyme replacement treatment for three to four months but did not improve and joined the gene therapy study in 2008. Today, that boy, who lives with his family in Arizona, is a thriving 5-year-old.
 
"You would never know he had been so sick," Kohn said. "It's a very promising response."
 
The boy's younger sister, also born with ADA-deficient SCID, was diagnosed at 4 months of age and is enrolled in the second phase of the study. She's also doing well, Kohn said. In fact, it appears that children who are diagnosed and treated younger seem to do better.


Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,500+ scientific posters on ePosters
  • More than 3,700+ scientific videos on LabTube
  • 35 community eNewsletters


Sign In



Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into TechnologyNetworks.com you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.


Scientific News
The Mending Tissue - Cellular Instructions for Tissue Repair
NUS-led collaborative study identifies universal mechanism that explains how tissue shape regulates physiological processes such as wound healing and embryo development.
Tissue Bank Pays Dividends for Brain Cancer Research
Checking what’s in the bank – the Brisbane Breast Bank, that is – has paid dividends for UQ cancer researchers.
iPS Cells Discover Drug Target for Muscle Disease
Researchers have designed a model that reprograms fibroblasts to the early stages of their differentiation into intact muscle cells in a step towards a therapeutic for Duchenne muscular dystrophy.
Engineered Hot Fat Implants Reduce Weight Gain
Scientists at UC Berkeley have developed a novel way to engineer the growth and expansion of energy-burning “good” fat, and then found that this fat helped reduce weight gain and lower blood glucose levels in mice.
Transplanted Stem Cells Can Benefit Retinal Disease Sufferers
Tests on animal models show that MSCs secrete growth factors that suppress causes of diabetic retinopathy and macular degeneration.
MRI Scanners Can Steer Therapeutics to Specific Target Sites
Scientists from the University of Sheffield have discovered MRI scanners, normally used to produce images, can steer cell-based, tumour busting therapies to specific target sites in the body.
Team Finds Early Inflammatory Response Paralyzes T Cells
Findings could have enormous implications for immunotherapy, autoimmune disorders, transplants and other aspects of immunity.
Early Detection of Lung Cancer
The University of Manchester has signed a collaboration agreement with Abcodia to perform proteomics studies on a cohort of non-small cell lung cancer cases from the UKCTOCS biobank, with the aim of discovering new blood-based biomarkers for earlier detection of the disease.
Researchers Identify Drug Candidate for Skin, Hair Regeneration
Formerly undiscovered role of protein may lead to the development of new medications that stimulate hair and skin regeneration in trauma or burn victims.
Basis for New Treatment Options for a Fatal Leukemia in Children Revealed
Detailed molecular analyses allow new insights into the function of tumour cells and options for new treatments.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
 
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,500+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
3,700+ scientific videos
Close
Premium CrownJOIN TECHNOLOGY NETWORKS PREMIUM FREE!