CCR5 is the major co-receptor for human immunodeficiency virus (HIV). The New England Journal of Medicine recently published the results of a clinical trial investigating the safety of the infusion of autologous CD4 T-cells in which the CCR5 gene was rendered permanently dysfunctional by a zinc-finger nuclease (ZFN).

Following infusion of genetically edited cells, the CD4 T-cell count increased significantly compared to pre-infusion baseline and the concentration of CCR5-modified CD4 T-cells at 1 week constituted 8.8% of circulating peripheral-blood mononuclear cells and 13.9% of circulating CD4 T cells. HIV RNA became undetectable in one of four patients who could be evaluated. The blood level of HIV DNA decreased in most patients. In conclusion, CCR5-modified autologous CD4 T-cell infusions were safe and resulted in preliminary results suggesting its efficacy.

http://www.nejm.org/doi/full/10.1056/NEJMoa1300662

OMMBID, Part 2; chapter 5.2: Gene Therapy of Human Inherited Diseases

Posted by Nicola Brunetti-Pierri, MD, FACMG