Gene Therapy for Rare Immune Disease Shows Promise in Clinical Study

Researchers report in the New England Journal of Medicine this week that a gene therapy for a rare immune disorder affecting infants appears to have restored immune function. The disease — Artemis-SCID — is a severe form of primary immunodeficiency caused by mutations in the DCLRE1C gene, which encodes the DNA-repair enzyme Artemis, and is typically treated via bone marrow transplants from matching donors. In a clinical study, researchers from the University of California, San Francisco, and elsewhere transfected a lentiviral vector containing DCLRE1C into autologous CD34+ cells harvested from the bone marrow of 10 infants newly diagnosed with Artemis-SCID. The cells were then transfused back into the children. The treatment successfully restored immune functioning in all of the babies with no serious adverse effects, according to the researchers. The findings, the investigators write, suggest that further development of the approach is warranted.