It’s not often that a rare genetic immunodeficiency disorder captures the attention of the general public, but with an iconic John Travolta-led feature film centered on “bubble boy” disease, it seems the condition — formally known as severe combined immunodeficiency (SCID) — is an exception.
For those who have long been following the intricacies of the disease, there’s an important update. This week, decades after it was captured on the big screen, researchers from St. Jude Children's Research Hospital accepted a Smithsonian Ingenuity Award for what’s being referred to as a potential “cure.”
SCID, which affects less than 20 infants a year, is caused by mutations in the genes that help develop and fuel the immune system. As a result, those born with the condition (typically males) are unable to fight off infections — even those as minor as the common cold. More serious viruses such as pneumonia can quickly turn deadly, resulting in the death of many SCID patients before age one.
Early treatment sometimes involved (as documented in the Travolta movie The Boy In The Plastic Bubble) putting individuals in NASA-level protective suits to insulate them from germs. But the method made it difficult to live a normal life. In recent years, researchers have used bone marrow transplants to treat the condition, but the procedure requires a sibling who is a match, which many do not have.
Enter the late Brian Sorrentino, MD, a physician, and survivor of childhood cancer who was determined to find a way to save kids with SCID. Inspired by French researchers’ use of gene therapy to treat SCID (an experiment that ultimately led to serious complications like Leukemia), Sorrentino set out to find a way to initiate the growth of an immune system in a newborn without adding more risks.
Building on the research out of France, his method involved the “use of a virus to transport and insert a correct copy of a gene into the genome of patients’ blood stem cells,” according to St. Jude, which helped fund the research along with the California Institute of Regenerative Medicine and the National Institutes of Health.
The method, as Ewelina Mamcarz, MD, one of the St. Jude researchers involved in the project tells Yahoo Lifestyle, involves taking a deactivated HIV virus (cleared of its active particles) and using it to deliver an unmutated gene. “Dr. Sorrentino always said ‘What are viruses good at? They’re good at infecting cells,’” Mamcarz says of the doctor, who passed away from lung cancer last year. “So he used the property of that virus to carry that normal health gene into the cell.”
Mamcarz says the process, which 12 infants with SCID have now undergone, involves first removing bone marrow cells from the patient and then exposing them to the deactivated HIV virus, which contains the healthy gene, for three days. The infected cells are then cryopreserved for two weeks while the patient undergoes a 2-day treatment of chemotherapy in order to “make room” for the new cells.
Once they are ready, the cells are delivered back to the infant through a two to three-minute infusion, and the process of building an immune system begins. “The cells are very smart,” says Mamcarz. “They know where to go.” Thus far, all 12 of the patients who have received the treatment have either developed or begun developing a successful immune system and have been able to live normal lives.
“They are all outpatients. They don’t require any protective isolation anymore or protective medications from infection,” Mamcarz tells Yahoo Lifestyle. “The first ones from this clinical trial are over three years from therapy and they are doing well. They attend daycare, go on family trips. They're truly no different than other kids.” Most important, Mamcarz says, they can get sick. “They catch infections, just like any other healthy toddler, but they cleared them,” she says. “Which would not be possible without the treatment.”
As of now, the treatment is still in a Phase I Clinical Trial, meaning researchers are focused on efficacy and safety. And although it’s primarily performed at St. Jude, Mamcarz says the large team of doctors and researchers who helped develop it now have partners at the University of San Francisco and the National Institutes of Health who are participating as well.
She hopes, in time, that it will gain approval from the Food and Drug Administration. And as a mother of 16-month old, she feels a uniquely special connection to the families. “I couldn't be happier to see all my patients having the same chance in life. Those are babies are just starting their journey,” she says. “So for them to be able to do what my daughter and her peers can do? It's truly rewarding.”
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