Chronic Granulomatous Disease (CGD) Clinical Trials

Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency caused by mutations affecting the NADPH oxidase complex in phagocytes, preventing production of reactive oxygen species critical for killing certain pathogens. The X-linked form (affecting CYBB gene) accounts for approximately 90% of cases and predominantly affects males, while autosomal recessive variants involve mutations in other NADPH oxidase subunits including CYBA, NCF1, NCF2, and NCF4. Affected neutrophils and macrophages cannot produce the respiratory burst necessary to kill catalase-positive organisms including Staphylococcus aureus, Serratia, Nocardia, Aspergillus, and Burkholderia cepacia.

The most common symptoms of Chronic Granulomatous Disease include Severe, recurrent infections (bacteria and fungi), Granuloma formation affecting multiple organs, Lymphadenitis and hepatosplenomegaly, Lung infections and granulomas, GI complications including obstruction, among others. Chronic Granulomatous Disease affects approximately 1 in 250,000 people; X-linked form (most common) and autosomal recessive variants. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Chronic Granulomatous Disease from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. Current management includes prophylactic trimethoprim-sulfamethoxazole (targeting Staphylococcus aureus) and itraconazole or voriconazole (preventing Aspergillus infection). Interferon-gamma therapy reduces infection frequency and severity through enhanced respiratory burst.

Yes. As of September 2026, Trial Friend lists 1 FDA-approved drug used to treat Chronic Granulomatous Disease: Actimmune (interferon gamma-1b), first approved in 1990.

Each has its own page with what the label covers, side effects and how it is given, and the Treatments section of this page adds any further approved drugs found in FDA labeling data.

Chronic Granulomatous Disease is caused by variants in the CYBB, NCF1, CYBA, NCF2 and NCF4 genes. All five genes encode NADPH oxidase subunits; the X-linked CYBB form is the most common.

It follows X-linked recessive (CYBB) or autosomal recessive (CYBA, NCF1, NCF2, NCF4) inheritance. The condition affects approximately 1 in 250,000 people; X-linked form (most common) and autosomal recessive variants. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Chronic Granulomatous Disease looks at the CYBB, NCF1, CYBA, NCF2 and NCF4 genes. All five genes encode NADPH oxidase subunits; the X-linked CYBB form is the most common.

It follows X-linked recessive (CYBB) or autosomal recessive (CYBA, NCF1, NCF2, NCF4) inheritance.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Chronic Granulomatous Disease clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Chronic Granulomatous Disease clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.