Artemis-SCID is a severe form of immunodeficiency caused by mutations in a specific gene. Jennifer Puck, MD, principal investigator of the Primary Immune Deficiency Treatment Consortium (PIDTC) and UC San Francisco (UCSF) Pediatrics professor, is helping to lead a clinical trial that involves transferring a normal copy of the mutated gene into patients’ own stem cells. The study aims to determine whether the procedure is safe, feasible, and results in a normal immune system up to 15 years later.
Watch a video from UCSF featuring Dr. Puck and trial participant HT:
The Primary Immune Deficiency Treatment Consortium (PIDTC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). PIDTC is funded under grant number U54AI082973 as a collaboration between NCATS and the National Institute of Allergy and Infectious Diseases (NIAID).