With support from CTSI, UCLA researchers have developed a stem cell gene therapy for babies born with adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCD), also known as "bubble baby" disease, a rare and life-threatening condition that can be fatal within the first year of life if left untreated. The phase 2 clinical trial led by Dr. Donald Kohn included nine infants and one teenager. The nine babies saw their immune systems restored, and three of them were able to discontinue intravenous immunoglobulin therapy. The teenager showed no signs of immune-system recovery.
ADA-SCD is caused by a genetic mutation that results in a lack of the adenosine deaminase enzyme, which is an important component of the immune system. Dr. Kohn's treatment corrects the ADA-SCD mutation by genetically modifying each patient's own blood-forming stem cells.
Read the UCLA press release here.
Read the publication in the Journal of Clinical Investigation.