Individuals with CGD can be treated with hematopoietic stem cell transplantation (HSCT), which, in those with CGD, essentially replaces the defective phagocytes with working ones. HSCT outcomes are generally good for people with CGD. HSCT has been associated with improved long-term survival, approximately greater than 90%, and improved quality of life, particularly in individuals with X-linked CGD when compared to those individuals who are managed with medications. HSCT is also quite effective for the treatment of inflammatory colitis associated with CGD. HSCT is not indicated for all individuals with CGD, as many do well on medical management. The risks and benefits of the procedure must always be carefully weighed.
Replacement of only the defective gene, called gene therapy, is currently available in clinical trials for X-linked CGD. In this therapy, some of the individual’s own hematopoietic stem cells are harvested (removed) from the individual, and a healthy copy of the abnormal gene is added to the individual’s own stem cells. These corrected cells are then transfused back into the individual, similar to the procedure used for HSCT. As with HSCT and any treatment, the risks and benefits of the procedure must always be carefully weighed.
A list of current clinical trial is available at Clinical Trials.gov.