New gene therapy trial for “bubble boy” disease gives a young boy in Chile a chance for a healthy life

  By: Irene Sege Gabriel Solis is a typical 3-year-old. He likes puzzles and swimming and singing. He shakes off colds like other children.  Gabriel, however, is not like other children. He was born without a functioning immune system. Gabriel’s healthy immune system came by way of an international gene therapy trial for “bubble boy” disease. When Gabriel was 4½ months old, he came down with a fever and pneumonia that landed him in the intensive care unit of the local hospital in the family’s hometown of La Serena, Chile. A few days later, tethered to a ventilator, he was flown to Santa Maria Clinic in the capital of Santiago. “I was getting very worried,” says his mother, Carolina Riquelme. “The situation was getting worse and worse.” The diagnosis: SCID-X1 In Santiago, Gabriel’s parents received the devastating diagnosis. Their only child had X-linked severe combined immunodeficiency (SCID-X1). His blood did not contain the T-cells that form the core of the body’s immune system. For the next five months, Gabriel lived in the hospital’s isolation unit. Left untreated, boys with SCID-X1 usually die of infection before their first birthday. The preferred treatment was a stem cell transplant with a matched sibling donor, which Gabriel did not have. “We were in a state of shock,” Riquelme says. A gene therapy trial at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center offered the family some hope. Researchers had created a modifie...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: All posts Source Type: news