UCLA Breakthrough Offers Lasting Cure for Fatal Genetic Disorder
- Dec 12
- 2 min read
Researchers at UCLA, led by Dr. Donald Kohn, have pioneered an experimental gene therapy that successfully treats children born with Adenosine Deaminase-Severe Combined Immunodeficiency (ADA-SCID), commonly known as “Bubble Baby disease”. This rare and deadly genetic disorder leaves children with virtually no immune system whatsoever, making any common infection life-threatening and often fatal before the age of two if left untreated.
Conventional treatments for ADA-SCID, such as costly, lifelong enzyme injections or bone marrow transplants from perfectly matched donors, are often limited or carry significant risks. For patients like Evangelina Vaccaro, whose twin sister was not a perfect match, the gene therapy was the only other option.
The gene therapy approach, refined over three decades of research, involves collecting the patient's own blood stem cells. In the laboratory, researchers use a modified virus to introduce a normal copy of the missing ADA gene. These genetically corrected cells are then infused back into the patient, allowing them to produce healthy immune cells capable of fighting infections.
Long-term follow-up results from the largest study of this gene therapy to date demonstrate remarkable success: 59 out of 62 children treated were restored to immune function, representing a 95% success rate. The study, covering 474 years of patient data, showed that immune function remained stable beyond the initial recovery period, with no serious complications reported.
Children who received the therapy, including Evangelina Vaccaro, now 13, and Eliana Nachem, 11, are living full, healthy lives, having been able to shed their protective bubbles. Evangelina is thriving and playing competitive tennis. As Evangelina's mother stated, "Science gave it to her. They gave her a life that we couldn't give her".
To advance accessibility globally, researchers successfully treated more than half of the study children using a frozen preparation of corrected stem cells, meaning patients do not have to travel long distances for stem cell collection. Dr. Kohn and his team are now actively working toward gathering the necessary clinical data and demonstrating commercial manufacturing standards in hopes of gaining FDA approval within two to three years.
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Keywords: Lasting Cure for Fatal Genetic Disorder
Lasting Cure for Fatal Genetic Disorder
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