Scientists have used gene therapy to cure babies with a rare disease brought into cultural consciousness by David Vetter, who became known as "bubble boy."
The study focused on children with X-linked severe combined immunodeficiency (SCID-X1): the most common form of a condition where the interleukin-2 receptor subunit gamma (IL2RG) gene mutation stops the body from producing a protein needed for the immune system to function. This renders the body unable to fight infection.
Without treatment, most children with SCID-X1 die by their first birthday. Currently, patients diagnosed with the condition can be cured if they can find a viable bone marrow stem-cell donor.
Scientists at St. Jude Children's Research Hospital recruited eight children from an existing clinical trial of patients with the disease, and collected samples of their bone marrow. A virus was then used to transport a corrected version of the gene into the DNA of their blood stem cells.
After three months, seven of the patients were able to produce T cell, B cell and natural killer immune cells. One child needed a booster session of gene therapy because they had a low T cell count. This is the first time children with SCID-X1 have been able to produce B cells, according to the authors of the study published in the New England Journal of Medicine. The process took around 16 months to complete, during which time no unexpected side effects emerged.
Dr. Ewelina Mamcarz, first author of the study at the St. Jude Department of Bone Marrow Transplantation and Cellular Therapy, commented: "These patients are toddlers now, who are responding to vaccinations and have immune systems to make all immune cells they need for protection from infections as they explore the world and live normal lives. This is a first for patients with SCID-X1."
Study co-author Dr. Mort Cowan, a professor of pediatrics at University of California, San Francisco where four of the children were treated, commented: "While longer follow-up is needed to assess any late effects of treatment, these results suggest most patients treated with this gene therapy will develop a complete durable immune response without side effects."
Dr. Brian Sorrentino, of the St. Jude Department of Hematology, was the senior author of the study but died before it was published.
David Vetter is perhaps the most famous sufferer of SCID. Born in 1971, a bone marrow match could not be found for the child at the time. For over a decade, he lived at Texas Children's Hospital inside a protective bubble and wore airtight suits so he would not come into contact with potentially life threatening bugs that his immune system was unable to fight. During this time, he was home-schooled at the hospital. He died of lymphoma in 1984 after a bone marrow transfusion which doctors believe introduced a virus into his defenseless body.
His mother Carol Ann Demaret told the Immune Deficiency Foundation: "As parents of an afflicted child, the only thing we had in our control was to see that David received the best possible care. We trusted our doctors.
"We were grateful for the bubble; the bubble was the only treatment option available for David at the time. If it hadn't been for the bubble, we would not have had him for 12 years. Our goals were to keep David safe, bring the outside in and make sure he felt loved."
The headline of this article has been updated.
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