UCLA-developed gene-correcting stem cell therapy restored a functioning immune system in 13-year-old Evangelina "Evie" Vaccaro, who was born with ADA-SCID. The autologous procedure uses a viral vector to insert a healthy copy of the missing gene into the patient’s stem cells and has successfully treated more than 60 children. A waiting list of about 20 patients remains due to limited funding; researchers hope FDA approval will expand access.
UCLA Gene Therapy Restores Life for 'Bubble Girl': 13-Year-Old Thrives After Gene-Correcting Stem Cell Treatment
Thirteen-year-old Evangelina "Evie" Vaccaro, once protected from everyday infections by a makeshift "bubble," now lives a normal childhood thanks to an experimental gene-correcting stem cell therapy developed at UCLA.
Born with ADA-severe combined immunodeficiency (ADA-SCID), Evie arrived into the world without a functioning immune system—an often fatal condition in which routine infections can quickly become life-threatening. Her mother, Alysia Padilla-Vaccaro, described the newborn diagnosis as feeling like "a death sentence."
Traditionally, clinicians treat ADA-SCID with a bone marrow transplant from a matched donor. When Evie’s twin sister, Annabelle, was not a suitable match, her family turned to an experimental option pioneered by Dr. Donald Kohn and collaborators in the United Kingdom: an autologous stem cell transplant that repairs the patient’s own cells.
How the Treatment Works
At three months old, Evie became one of the youngest patients to receive the procedure at UCLA. Doctors harvest the patient’s stem cells, use a harmless viral vector in the laboratory to deliver a normal copy of the missing ADA gene into those cells, then transplant the corrected cells back into the patient. The modified stem cells then develop into functioning immune cells.
Dr. Kohn notes that while the technique may sound straightforward, it represents roughly three decades of research to refine safety and effectiveness. To date, more than 60 children have been successfully treated with this approach.
"We take some stem cells from the patient, and then in the laboratory we introduce with a virus a normal copy of the gene that they're missing, and then we transplant those cells back to the patient," Dr. Kohn explained.
From Isolation to the Tennis Court
Within a year after the procedure, Evie was able to stop living in isolation and has since joined everyday life. She plays competitive tennis and says she is comfortable sharing food and drinks with friends again.
"Science gave it to her. They gave her a life that we couldn't give her," Padilla-Vaccaro said.
Although Evie's immune system now functions normally, access to the therapy remains limited. Dr. Kohn reported a waiting list of roughly 20 patients who could benefit but cannot be treated because of insufficient funding to manufacture the corrected cell products and deliver the therapy.
Researchers and the family hope the U.S. Food and Drug Administration will approve the treatment, which would expand access so more children with ADA-SCID can receive it.
Why It Matters: This gene-correction approach uses a patient’s own cells, reducing donor-related complications, and has the potential to transform outcomes for rare genetic immune disorders.
