A UCLA medical researcher was lauded Tuesday for developing a groundbreaking new stem-cell gene-therapy treatment that has cured 18 children with so-called “bubble baby” disease which left them without an immune system.
Dr. Donald Kohn’s gene therapy removed the young patients’ own blood stem cells from their bone marrow, added a missing gene in the laboratory, and then transplanted the cells back into their bodies, he said.
For parents Alysia and Christian Padilla-Vaccaro, Kohn’s therapy was a godsend. It allowed their daughter Evangelina, one of a pair of fraternal twin sisters, to develop a new immune system without side effects and live normally.
“I gave birth to my daughter, but this man gave life to my daughter,” Alysia Padilla-Vaccaro said at a news conference at UCLA Tuesday.
“She had her second birthday party, and we literally said on the invitation, ‘Come celebrate … your germs are invited,'" Alysia Padilla-Vaccaro said.
Kohn, a researcher at the UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, focused on ADA-deficient severe combined immunodeficiency. Researchers have not yet sought federal approval that would allow the therapy to be used in all children with the disease.
The same method used in the trial that included Evangelina will be tested as a cure for sickle cell disease. Clinical trials are set to begin next year.
Without receiving treatment, children with bubble baby disease are extremely vulnerable to infectious diseases and usually die within the first or second year of their lives, according to UCLA.
“Other current options for treating ADA-deficient SCID are not always optimal or feasible for many children,” Kohn said in a news release from the center. “We can now, for the first time, offer these children and their families a cure, and the chance to live a full healthy life.”
Many patients can be cured with a bone-marrow transplant from matched siblings, but such matches are rare. In Evangelina’s case, her twin sister Annabella was not a match. With limited options, the family enrolled Evangelina in the trial.
The family dealt constantly with masks, sanitizing and other habits to minimize germs.
“It was the hardest thing I’ve ever had to go through,” Christian Padilla-Vaccaro said.
All 10 children in the gene therapy trial that included Evangelina survived, and Kohn has successfully treated eight other children.