Posts Tagged ‘Gene therapy’

The Bubble Boy Cured

November 20, 2014

One of the funniest episodes of the sitcom Seinfeld was The Bubble Boy, which naturally featured a boy with a severe immune disorder who lived in a “bubble”. The main characters of the show; Jerry, Elaine, George and George’s girlfriend Susan are all going  on a trip to Susan’s family’s cabin with a stop along the way for Jerry to meet a young fan of his who happened to be a bubble boy. Driving in two separate cars, the group becomes separated and George and Susan arrive at the bubble boy’s house not knowing where Jerry and Elaine are or how late they might be.

 

This episode aired back in 1992 and advancing technology has rendered the premise of a party being lost and separated obsolete. In our age of ubiquitous cell phones, Jerry Seinfeld and his friends could have easily kept in touch with one another. Even better, recent advances in medical research may soon make the whole concept of keeping children with severe immune disorders in sterile environments, or bubbles, as obsolete as the iron lung or bleeding with leeches. Here is the article from Time with the good news.

Alysia Padilla-Vaccaro and Christian Vaccaro owe their daughter’s life to stem cells. Evangelina, now two, is alive today because she saved herself with her own bone marrow cells.

 

Evangelina, a twin, was born with a severe immune disorder caused by a genetic aberration that makes her vulnerable to any and all bacteria and viruses; even a simple cold could be fatal. But doctors at University of California Los Angeles (UCLA) Broad Stem Cell Research Center gave her a new treatment, using her own stem cells, that has essentially cured her disease. She’s one of 18 children who have been treated with the cutting-edge therapy, and the study’s leader, Dr. Donald Kohn, says that the strategy could also be used to treat other gene-based disorders such as sickle cell anemia.

Known to doctors as adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID), it’s better known as “bubble boy” disease, since children born with the genetic disorder have immune systems so weak that they need to stay in relatively clean and germ-free environments. Until Evangelina and her sister Annabella were 11 months old, “We were gowned and masked and did not go outside,” says their mother Alysia Padilla-Vaccaro. “Our children did not physically see our mouths until then because we were masked all the time. We couldn’t take them outside to take a breath of fresh air, because there is fungus in the air, and that could kill her.”

 

The only treatments for SCID are bone marrow transplants from healthy people, ideally a matched sibling; the unaffected cells can then repopulate the immune system of the baby with SCID. But despite being her twin, Annabella wasn’t a blood match for her sister, nor were her parents. Padilla-Vaccaro and her husband, Christian, were considering unrelated donors but were concerned about the risk of rejection. “We would be trying to fix one problem and getting another,” she says.

That’s when the doctors at the Children’s Hospital at Orange County, where Evangelina was diagnosed, told her parents about a stem cell trial for SCID babies at UCLA, led by Dr. Donald Kohn. “As soon as they said trial, I thought, ‘my kid is dead,” says Padilla-Vaccaro of the last resort option. But a dozen children born with other forms of SCID—in which different mutations caused the same weak immune systems—who were successfully treated by Kohn convinced the couple that the therapy was worth trying. Kohn had one spot left in the trial and was willing to hold it for Evangelina until she matured more. Born premature, she was diagnosed at six weeks old and needed more time for what was left of her immune system to catch up to weather the procedure.

When she was two months old, Evangelina was admitted to UCLA and had bone marrow drawn from her tiny hip. It contained the stem cells that go on to develop into all of the cells in the blood and immune systems. Kohn treated them with gene therapy, co-opting a modified virus to carry the healthy ADA gene so it could infect the stem cells from Evangelina’s bone marrow. The idea was that by transplanting these healthy ADA-containing cells back into Evangelina, she would soon be making her own healthy immune cells. And because they were made from her own cells, her body wouldn’t reject them.

“After the transplant of this miraculous tube of stem cells, which literally took five minutes, we had to just wait and see for a good six weeks,” says Padilla-Vaccaro. “The week after Christmas [in 2012], Dr. Kohn came in and told me, ‘It worked.’ It worked. Those words…besides the birth of my children, that day will always be the best day in my life.”

There is more about how Dr. Kohn developed his procedure.

This is truly wonderful news and I hope that the techniques used in cases like this can be used to treat or cure other genetic diseases. As Glenn Reynolds might say, faster please.

 

Leukemia Treatment Exceeds Expectations

August 11, 2011

This is wonderful news, though it may be a bit premature to celebrate.

Research published Wednesday in the New England Journal of Medicine shows amazing results from a single shot to treat leukemia. It may be one of the most significant advances in cancer research in decades.

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While doctors at the University of Pennsylvania have only treated three leukemia patients, they report the treatment made the most common type of leukemia disappear in two of the patients, and reduced it by 70 percent in the third.

In each patient, as much as five pounds of cancerous tissue compelety melted away in a few weeks, and a year later remained gone.

The research almost did not happen. The National Cancer Institute and several pharmaceutical companies declined to fund the research. But, the researchers did receive a grant from the Alliance for Cancer Gene Therapy, a charity founded by Barbara and Edward Netter after the daughter-in-law died of cancer. The funds were enough to cover just the three patients treated in the study.

While the research is new and involved only three, the results surpassed expectations and many are optimistic and hopeful about further findings.

There is more information here.

Scientists are reporting the first clear success with a new approach for treating leukemia — turning the patients’ own blood cells into assassins that hunt and destroy their cancer cells.
They’ve only done it in three patients so far, but the results were striking: Two appear cancer-free up to a year after treatment, and the third patient is improved but still has some cancer. Scientists are already preparing to try the same gene therapy technique for other kinds of cancer.
“It worked great. We were surprised it worked as well as it did,” said Dr. Carl June, a gene therapy expert at the University of Pennsylvania. “We’re just a year out now. We need to find out how long these remissions last.”
He led the study, published Wednesday by two journals, New England Journal of Medicine and Science Translational Medicine.
It involved three men with very advanced cases of chronic lymphocytic leukemia, or CLL. The only hope for a cure now is bone marrow or stem cell transplants, which don’t always work and carry a high risk of death.
Scientists have been working for years to find ways to boost the immune system’s ability to fight cancer. Earlier attempts at genetically modifying bloodstream soldiers called T-cells have had limited success; the modified cells didn’t reproduce well and quickly disappeared.
June and his colleagues made changes to the technique, using a novel carrier to deliver the new genes into the T-cells and a signaling mechanism telling the cells to kill and multiply.
That resulted in armies of “serial killer” cells that targeted cancer cells, destroyed them, and went on to kill new cancer as it emerged. It was known that T-cells attack viruses that way, but this is the first time it’s been done against cancer, June said.
For the experiment, blood was taken from each patient and T-cells removed. After they were altered in a lab, millions of the cells were returned to the patient in three infusions.
The researchers described the experience of one 64-year-old patient in detail. There was no change for two weeks, but then he became ill with chills, nausea and fever. He and the other two patients were hit with a condition that occurs when a large number of cancer cells die at the same time — a sign that the gene therapy is working.
“It was like the worse flu of their life,” June said. “But after that, it’s over. They’re well.”

 

As Glenn Reynolds would say, faster please!


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