Israeli Researcher Patents Cure for 'Bubble Boy' Disease ~ Reut R. Cohen

Israeli Professor Shimon Slavin was the first doctor in the world to cure a child with the 'Bubble Boy' disease. The following is from Israel 21C regarding this amazing breakthrough which could help children suffering with the disease to lead stable, normal lives.

The film The Boy in the Plastic Bubble opened America's eyes to the rare genetic disorder -- severe combined immunodeficiency (SCID) -- afflicting up to 100 babies every year in the US. David Vetter, whose story the movie is based on, was a Texas boy who succumbed to the fatal disease known as Bubble Boy disease at the age of 12, after living years behind plastic barriers that protected his immune system from germs.

Thanks to research developed by an Israeli doctor, Prof. Shimon Slavin, babies and children everywhere may be spared from this fatal disease. Recent research based on Slavin's ground-breaking gene replacement approach developed in Israel, was tried and tested by a team of scientists from around the globe. The results were a success.

Using Slavin's patented approach, the international team, including researchers from Italy, found and then reported in the New England Journal of Medicine that Slavin's gene therapy protocol -- reduced-intensity conditioning (RIC) -- does not only treat, but appears to have cured eight out of the 10 children they treated for the fatal Bubble Boy disease.

"The first time the treatment was successful was our patient in Israel, based on my protocol, in my laboratory," says Slavin. "Based on that first patient, this is the basis of the [new] medicine," being reported in the journal, he says.

Slavin's story starts back in 2000, when he met an Arab family from East Jerusalem. Having a child who had already died from the disease, the family turned to Slavin to see if he could treat their new baby girl, also diagnosed with SCID.

He wanted to go for a cure

Currently the only treatments for SCID are either bone marrow transplants, which do not always work, or enzyme injections, which can cost up to half a million dollars a year. Any solution only prolongs life: "Even with those who have money, they will eventually die," Slavin tells ISRAEL21c.

Due to an internal disagreement between medical authorities over payments for the Jerusalem baby's treatments, the girl did not get enzyme therapy -- a mistake that would eventually save her life.

"Our child did not have any injection of enzyme," says Slavin, "I came up with the idea that we should go for a cure, and not repeat any failures. Based on our work with the biology of stem cells, we had a lot of experience.

"Also based on the fact that RIC can make a successful transplant -- I used my success in leukemia: we needed to condition the child to allow a biological advantage," says Slavin.

To do this he suppressed his patient's stem cells, and then injected her with one milliliter of bone marrow cells. "This resulted in a steep rise of lymphocytes," says Slavin.

Now almost 10 years later, "she is not only alive, she's perfect," he says. She appears to be the first patient to be cured from the Bubble Boy disease. Together they make medical history.

"She's a normal child, whose immune system is so strong that even in the poorer East Jerusalem neighborhood where she lives, when an epidemic of chicken pox broke out among the kids, everyone got the disease and she didn't," says Slavin, proving that the gene replacement therapy made her not only normal, but her immune system, possibly, "super normal."

In the new international study, the researchers applied Slavin's therapeutic approach and tracked the progress of the children over four years. They reported that eight of their patients no longer take medication.

In Bubble Boy disease, the less common and fatal form of it is found in babies with a genetic defect -- their tiny bodies don't produce enough of the enzyme adenosine deaminase (ADA).

Using Slavin's proven methods, international scientists took marrow cells from the patients and in the laboratory inserted "corrected" versions of the cells, versions that know how to produce the adenosine deaminase enzyme.