Multi-Decade Analysis on Chronic Granulomatous Disease (CGD) Highlights Success of Treatment Regimen in Improving Long-Term Patient Outcomes

Developed under the direction and sponsorship of by Horizon Therapeutics. This content was prepared by the specialized content division of FMC of Pediatric News.


The case of a young child suffering from highly unusual, recurring or severe bacterial or fungal infections can present a diagnostic puzzle for infectious disease specialists. One rare but significant cause might be chronic granulomatous disease (CGD), a rare, genetic immunodeficiency disorder that leaves individuals susceptible to severe, recurrent and potentially life-threatening infections.

An update to our 30-year single-center review of U.S. patient experiences with CGD was recently published in the Journal of Clinical Immunology. This publication illustrates the importance of identifying the signs and symptoms associated with CGD for an earlier diagnosis, family testing and proper preventative care. We evaluated 26 patients with CGD seen from December 2013 to November 2019; many of the patients treated at Lurie Children’s Hospital have been followed since their initial diagnosis, some as early as March 1985.

About 20 children are born with CGD each year in the US, and it is in most cases diagnosed before age five. As CGD is a rare, genetic condition, obtaining a thorough family history is one critically important way to establish an early diagnosis. A multifaceted prophylactic treatment regimen has been adopted as the gold standard to protect this vulnerable population from bacterial and fungal infections to which they are susceptible.

These new data demonstrate positive long-term outcomes associated with “triple prophylaxis” therapy, which includes interferon gamma-1b to augment the immune responses of these children and prophylactic antifungal and antibacterial therapies, to protect patients from infection. Importantly, the study found that the use of this regimen reduced the serious infection rate, defined as infections requiring hospitalization or intravenous antibiotics, among these patients, to 0.2 per patient year from December 2019 to November 2019, versus 0.62 from March 1985 through November 2013. No deaths were reported in the past six years, and the study group continues to monitor for autoimmune manifestations or unusual infections.

Infectious disease experts, pediatric immunologists and others treating patients with CGD should consider these promising results when developing treatment plans. Some female carriers of the disease who experience CGD symptoms may also benefit from medical management with triple prophylaxis therapy. Given the complexity of CGD, these new data are helpful in guiding therapeutic decisions to reduce the risk of more serious infections and manage morbidity over time.

-Dr Katz is an attending physician in the Division of Infectious Diseases at Ann & Robert H. Lurie Children's Hospital of Chicago and a Professor of Pediatrics, Northwestern University Feinberg School of Medicine. He has over 30 years in practice.

Sponsored by Horizon Therapeutics
DA-UNBR-US-01274 12/22

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