March 28, 2017 by Tiare Dunlap Evangelina Vaccaro (far right), who in 2012 received treatment developed by UCLAs Dr. Donald Kohn for bubble baby disease, with her family before her first day of school. Credit: Courtesy of the Vaccaro family
UCLA researchers have developed a stem cell gene therapy cure for babies born with adenosine deaminase-deficient severe combined immunodeficiency, a rare and life-threatening condition that can be fatal within the first year of life if left untreated.
In a phase 2 clinical trial led by Dr. Donald Kohn of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, all nine babies were cured. A 10th trial participant was a teenager at the time of treatment and showed no signs of immune system recovery. Kohn's treatment method, a stem cell gene therapy that safely restores immune systems in babies with the immunodeficiency using the child's own cells, has cured 30 out of 30 babies during the course of several clinical trials.
Adenosine deaminase-deficient severe combined immunodeficiency, also known as ADA-SCID or bubble baby disease, is caused by a genetic mutation that results in the lack of the adenosine deaminase enzyme, which is an important component of the immune system. Without the enzyme, immune cells are not able to fight infections. Children with the disease must remain isolated in clean and germ-free environments to avoid exposure to viruses and bacteria; even a minor cold could prove fatal.
Currently, there are two commonly used treatment options for children with ADA-SCID. They can be injected twice a week with the adenosine deaminase enzymea lifelong process that is very expensive and often does not return the immune system to optimal levels. Some children can receive a bone marrow transplant from a matched donor, such as a sibling, but bone marrow matches are rare and can result in the recipient's body rejecting the transplanted cells.
The researchers used a strategy that corrects the ADA-SCID mutation by genetically modifying each patient's own blood-forming stem cells, which can create all blood cell types. In the trial, blood stem cells removed from each child's bone marrow were corrected in the lab through insertion of the gene responsible for making the adenosine deaminase enzyme. Each child then received a transplant of their own corrected blood stem cells.
The clinical trial ran from 2009 to 2012 and treated 10 children with ADA-SCID and no available matched bone marrow donor. Three children were treated at the National Institutes of Health and seven were treated at UCLA. No children in the trial experienced complications from the treatment. Nine out of ten were babies and they all now have good immune system function and no longer need to be isolated. They are able to live normal lives, play outside, go to school, receive immunizations and, most importantly, heal from common sicknesses such as the cold or an ear infection. The teenager, who was not cured, continues to receive enzyme therapy.
The fact that the nine babies were cured and the teenager was not indicates that the gene therapy for ADA-SCID works best in the youngest patients, before their bodies lose the ability to restore the immune system.
The next step is to seek approval from the Food and Drug Administration for the gene therapy in the hopes that all children with ADA-SCID will be able to benefit from the treatment. Kohn and colleagues have also adapted the stem cell gene therapy approach to treat sickle cell disease and X-linked chronic granulomatous disease, an immunodeficiency disorder commonly referred to as X-linked CGD. Clinical trials providing stem cell gene therapy treatments for both diseases are currently ongoing.
Explore further: Stem cell researcher pioneers gene therapy cure for children with "Bubble Baby" disease
More information: Clinical efficacy of gene-modified stem cells in adenosine deaminasedeficient immunodeficiency. http://www.jci.org/articles/view/90367
UCLA stem cell researchers have pioneered a stem cell gene therapy cure for children born with adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID), often called "Bubble Baby" disease, a life-threatening ...
For the last several decades, scientists worldwide have been seeking to harness the power of stem cells to develop therapies for human diseases and conditions. At UCLA's Broad Stem Cell Research Center, the potential to bring ...
New research published online today in Blood, the Journal of the American Society of Hematology (ASH), reports that children with "bubble boy disease" who undergo gene therapy have fewer infections and hospitalizations than ...
Gene therapy can safely rebuild the immune systems of older children and young adults with X-linked severe combined immunodeficiency (SCID-X1), a rare inherited disorder that primarily affects males, scientists from the National ...
Researchers have found that gene therapy using a modified delivery system, or vector, can restore the immune systems of children with X-linked severe combined immunodeficiency (SCID-X1), a rare, life-threatening inherited ...
Using a new cellular model, innovative gene therapy approaches for the hereditary immunodeficiency Chronic Granulomatous Disease can be tested faster and cost-effectively in the lab for their efficacy. A team of researchers ...
A new study published in Nature Communications and co-authored by Northwestern Medicine scientists shows how two proteins of the Ca2+ release-activated Ca2+ (CRAC) channel family interact with each other to control the flow ...
UCLA researchers have developed a stem cell gene therapy cure for babies born with adenosine deaminase-deficient severe combined immunodeficiency, a rare and life-threatening condition that can be fatal within the first year ...
Wellcome Trust Sanger Institute scientists and their collaborators have developed a new analysis tool that was able to show, for the first time, which genes were expressed by individual cells in different genetic versions ...
The liver is crucial for the detoxification of the human body. The exposure to toxins makes it particularly prone to drug-induced injury. Cholestasis, the impairment of bile flow, is therefore a common problem of drug development ...
Men unable to have an erection after prostate surgery enjoyed normal intercourse thanks to stem cell therapy, scientists are to report Saturday at a medical conference in London.
McMaster University researchers have discovered that while survivors of childhood brain tumours have a similar Body Mass Index (BMI) to healthy children with no cancer, they have more fat tissue overall, and especially around ...
Please sign in to add a comment. Registration is free, and takes less than a minute. Read more
Go here to read the rest:
Pioneering stem cell gene therapy cures infants with bubble baby disease - Medical Xpress