Gene Therapy Program

Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD)

X-linked chronic granulomatous disease (X-CGD) is a rare inherited immune system disorder that affects boys. X-CGD is caused by an error in a gene called gp91-phox, which affects the proper function of phagocytes — white blood cells that ordinarily help the body fight and protect against infection. Phagocytes need an enzyme called phagocyte NADPH oxidase (PHOX) to produce a chemical "bleach" that destroys bacteria and fungi,  Since CGD phagocytes are missing key proteins, they fail to generate these infection-fighting chemicals. 

How gene therapy for X-CGD works

Gene therapy aims to correct gp91-phox, the dysfunctional gene that causes X-CGD. To perform X-CGD gene therapy, a patient’s blood stem cells (these are the cells that give rise to all mature blood stem cells) are collected. In a highly-specialized laboratory, a viral vector is used as a carrier to insert a correct version of the faulty gp91-phox gene into the patient’s stem cells. Then, the patient receives chemotherapy to make room for the genetically-altered cells. Finally, the cells are given back to the patient via an intravenous infusion. After the transplant, the stem cells are able to produce new white blood cells that can fight off infection.

CGD gene therapy patient is seen by Dr. David Williams

Meet Brenden.

December 2015 was when his trajectory changed. At 22, he came to Boston Children’s and became the first person in the U.S. to receive a genetic therapy for CGD under a new international trial. And so far it has worked.


X-CGD gene therapy clinical trial

Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease
Recruiting males 23 Months and older (full eligibility criteria)
Boston Children’s Hospital

Started: Jan. 2015

Principal investigators: David A. Williams, MD, and Sung-Yun Pai, MD
Colleen Dansereau, MSN, RN, CPN617-919-7008 or

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