Rare Immunodeficiency In Children Restored With Gene Therapy

Children and young adults with X-linked severe combined immunodeficiency (SCID-X1) are now safe to undergo gene therapy, according to a recent study.

Researchers found that after testing five SCID-X1 patients who received both gene therapy and low-dose chemotherapy, four of the patients showed improvements in immune function.

Mutations in the IL2RG gene cause the health issue--preventing infection-fighting immune cells from proper development and function. Because of this, many affected infants are highly susceptible to life-threatening infections. 

"Transplantation of blood-forming stem cells, ideally from a genetically matched sibling donor, is a lifesaving treatment for infants with SCID-X1. Those without a matched sibling often receive stem cells from a parent, which only partially restores immunity," the study states, in a news release. "Such patients require lifelong treatment and may continue to experience complex medical problems, including chronic infections."

In this recent study, researchers examined five SCID-X1 patients between the ages of 7 and 24. They removed stem cells from the patients' bone marrow and used a lentiviral vector to deliver a normal IL2RG gene to the cells. Following a low dose of chemotherapy, the corrected cells were infused back into the patient to help the stem cells establish themselves and begin producing new blood cells.

One patient died during the study because of pre-exiting, infection-induced lung damage two years after receiving gene therapy-showing the importance of early treatment before organ damage becomes irreversible.

The study results will be presented at the 57th American Society of Hematology Annual Meeting in Orlando, Fla.

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