Breakthrough for ‘Bubble Boy’ disease?
For children with X-SCID, a new gene therapy could be the answer.
Jennifer is the mother of Jameson, a lively, impish little boy who turned one year old last October. Looking at him, you would never suspect the ordeal he went through in his first year of life.
When the bump grew larger and more infected, doctors in the Gollidays’ home-town in Illinois took a biopsy. They told the Gollidays that Jameson had a rare form of cancer. He was five months old.
But one oncologist at their local hospital was not convinced. She thought it unusual for a baby to have such a rare cancer. Jameson was breathing rapidly and his overall condition was worsening. She kept looking for another explanation and found it: Jameson’s symptoms mimicked those of a rare immune disorder, severe combined immunodeficiency. A blood test confirmed that Jameson had a form of the disorder known as X-SCID, which affects only boys.
The disorder is caused by a defect in one of the genes crucial to the body’s production of immune cells. Like all children with SCID, Jameson had virtually no functioning immune system and was unable to fight any sort of infection. He was immediately transferred to Cincinnati Children’s by medical jet.
“He was very sick,” says Lisa Filipovich, MD, director of the Immune Deficiency and Histiocytosis Program at Cincinnati Children’s. She became Jameson’s physician. “But he was lucky because what he had was treatable.”
Jameson had developed a virulent form of pneumonia that required several rounds of antibiotics to get under control. The bump on his hip was not a malignancy but a cluster of uncontrolled B-cells, the result of his dysfunctional immune system.
Most children with SCID require a bone marrow transplant to rebuild their immune systems. But Jameson qualified for a clinical trial of a gene therapy being carried out at Cincinnati Children’s.
Doctors at Cincinnati Children’s removed some of Jameson’s bone marrow and treated it in the laboratory with the corrected gene. They then returned the treated stem cells to Jameson via a simple IV infusion. The goal is that the corrected cells will proliferate and restore his immune system.
“Nine weeks after his infusion, he started making his own T cells,” Jennifer says. “He had a runny nose and cough from his pneumonia, and it cleared up the week after he received the T cells. It was pretty exciting to see those symptoms disappear.”
“He was treated at eight months of age and so far, it’s working,” says Filipovich. “His immune system is developing exactly as we would expect.”
Jameson and his mom were able to resume life at home just before this past Thanksgiving. The only medication he will require is gamma globulin replacement for up to two years, until doctors are certain that his B-cell function is working as it should.
An initial attempt at gene therapy for X-SCID was halted worldwide some years ago when several children developed leukemia from the treatment. It was believed to be a result of the vector used in the therapy. Researchers now use a completely different vector, and doctors and families are cautiously hopeful that gene therapy will be the future go-to treatment – and possibly the cure – for X-SCID.
“I consider any family who volunteers for this a critical partner in this process. We are experimenting together,” says Filipovich. “With the Internet and Facebook, families know the good, the bad and the ugly about gene therapy. They have seen it all, in a way we could never describe to them. They come to us with well-thought-out decisions and choices. Now that we’ve lived through an era when bad things happened with gene therapy, having families who want to go forward is very empowering.”
Jameson Golliday’s was one of those families. And so far, they are happy with what they are seeing.
“His T-cell numbers are looking good,” Jennifer says. “He is full of energy – he runs everywhere."
