RecruitingPhase 1NCT05189925
Immune
Chronic Granulomatous Disease
Also known as CGD, NADPH oxidase deficiency, chronic granulomatosis, X-linked CGD
Chronic Granulomatous Disease is caused by mutations in components of the NADPH oxidase complex, resulting in failure of phagocytes to generate the oxidative burst needed to kill catalase-positive bacteria and fungi, leaving patients suscep
ORPHA:379 ↗Gene CYBBGene NCF1Gene NCF2Gene CYBAPrevalence 1 in 200,000-250,000Onset Infancy to early childhoodPrimary phagocyte immunodeficiency
13
studies recruiting now
as of 7 Sept 2026
91
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
20 Sept 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT00128973
Evaluation of Patients With Immune Function Abnormalities
RecruitingNCT00001405
Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes
RecruitingPhase 1 / Phase 2NCT03167437
An Open-Label, Proof of Consent Study of Vorinostat for the Treatment of Mdoerate-to-Severe Crohn s Disease and Maintenance Therapy With Ustekinumab
RecruitingNCT06605378
Prevalence of Antibodies and Cytokines in Participants With Chronic Granulomatous Disease
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 13 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Chronic Granulomatous Disease
Chronic Granulomatous Disease is caused by mutations in components of the NADPH oxidase complex, resulting in failure of phagocytes to generate the oxidative burst needed to kill catalase-positive bacteria and fungi, leaving patients susceptible to a characteristic spectrum of life-threatening infections and granulomatous inflammation. The X-linked form caused by CYBB mutations accounts for approximately 65-70% of cases and generally presents earlier and more severely than autosomal recessive variants. Allogeneic hematopoietic stem cell transplantation is the standard curative approach, and gene therapy with lentiviral vectors has demonstrated promise in trials for patients without suitable donors.
Common clinical features
Recurrent deep-seated infections with catalase-positive organisms (Staphylococcus, Aspergillus)Liver, lymph node, and lung abscessesGranulomatous obstruction of GI or urinary tractInflammatory bowel disease-like colitisLymphadenopathy and hepatosplenomegalyPerianal abscesses and fistulaeAbnormal dihydrorhodamine (DHR) flow cytometry
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 8 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Interferon Gamma-1b (Actimmune)
Phase 2Ibuprofen (Aches-n-pain)
Phase 2Plerixafor (Mozobil)
Phase 2Posaconazole (Noxafil)
Phase 1/2Pioglitazone
Phase 1/2Busulfan (Busilvex)
Phase 1/2Infliximab (Flixabi)
Phase 1 (early)Anakinra (Antril)
Phase 1 (early)Briquilimab
Before you apply
Things trial teams commonly ask about for Chronic Granulomatous Disease. Not eligibility rules; those are set by each study.
- DHR flow cytometry or nitroblue tetrazolium (NBT) test confirming NADPH oxidase deficiency is required for all trials; CYBB mutation confirmation is additionally required for X-linked specific gene therapy trials
- Active invasive fungal infection (Aspergillus, Candida) typically excludes from transplant conditioning studies until infection is controlled; provide current antifungal therapy details
- Prophylactic antibiotic and antifungal regimen history (itraconazole, trimethoprim-sulfamethoxazole) should be documented, as protocol-specified prophylaxis changes during trial participation are common
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).