(CNN) – In a major breakthrough for the medical world, doctors believe they have found a solution for children born with an immunodeficiency disorder known as “bubble boy” disease.
Jayceon Golden, 2, is a pretty typical toddler, who likes to play ball and peek-a-boo with the door. But when he was born, his aunt Dannie Hawkins, who takes care of him, thought moments like this might never be possible.
“What kind of life would that be? Nobody touch him. He can’t have friends. He can’t go to birthday parties. He can’t swim. How am I going to tell him, as he gets older, that he can’t go outside?” Hawkins said.
When Jayceon was born, he tested positive for a rare genetic condition known as X-linked severe combined immunodeficiency disorder, which basically meant he had no functioning immune system.
The condition became a part of pop culture after John Travolta played a boy with the same diagnosis in the 1976 movie “The Boy in the Plastic Bubble.”
In real life, kids with the disease don’t actually live in hermetically-sealed rooms, but it is critical to keep them as best protected from germs and pathogens as possible.
“These babies are prone to severe infections, opportunistic infections, if they are not treated properly – on time, early on,” said Dr. Eliaf Dokmeci with the University of New Mexico.
Current treatment requires those diagnosed to undergo a bone marrow transplant and a lifetime of immune-boosting maintenance with antibiotics and other drugs.
But in a study published Wednesday in the New England Journal of Medicine, doctors described a newly developed gene therapy that they believe may be a “cure” for children like Jayceon.
“Three to four months post the infusion, not only was he able to go home and start to live a relatively normal life, but we were able to take him off complete isolation and all prophylactic medications,” said Dr. Mort Cowan, who oversaw Jayceon’s treatment at the University of California, San Francisco.
The experimental therapy, which was developed at St. Jude Children’s Research Hospital in Memphis, TN, involves harvesting bone marrow cells from a child with the disease, inserting the healthy gene that is missing in these patients and infusing them back in to repopulate and restore the immune system.
“I don’t use the “cure” word very often for these patients, but I have to tell you I truly believe we’ve cured Jayceon of his severe combined immunodeficiency disease,” Cowan said.
Jayceon is one of eight children treated with the therapy. They were on average 3 1/2 months old. It’s been between 1 1/2 to two years since they were treated, and all are doing well.
“From a physiological point of view and from a ‘quality of life’ for these patients, this is a cure. The question will become, will it be a durable cure? Will it last 10, 20, 50 years for these children? And only time will tell,” said Dr. James Downing, president and CEO of St. Jude.
Dr. Ewelina Mamcarz, first author of the study and a researcher at St. Jude, says the therapy is still in the early phases of development. It is performed in combination with a chemotherapy called busulfan, which is most commonly used in bone marrow transplantation.
“It’s too early to estimate the overall cost, but we want it to be accessible to any and every child who needs it,” she said. “Most patients require just one infusion, and because we were able to restore fully their immune system, they did not require any additional therapies, like in transplant,” she said.
X-linked SCID affects at least 1 in 50,000 to 10,000 newborns, primarily boys, according to the US National Library of Medicine. If left untreated, it’s rare a child with the disease would live beyond their 2nd birthday.
In the United States, all newborns are screened for SCID, of which there are several types based on which gene defect is involved.
Researchers intend to investigate how the gene therapy could be used to treat patients of older ages and with other types of disease.
