Safety and Efficacy of Tofacitinib for Chronic Granulomatous Disease With Inflammatory Complications

Completed · Phase 1/Phase 2

Conditions studied: Chronic Granulomatous Disease, Inflammatory Gastrointestinal Disease, Inflammatory Skin Disease, Inflammatory Lung Disease

In brief

Background: Chronic granulomatous disease (CGD) is a disease of the immune system, which is how the body fights germs. People with CGD get infections easily and have other health problems. Some medicines to treat CGD have a lot of side effects and do not always work. Researchers want to see if a new drug can help. Objective: To see if tofacitinib is safe to use for treating chronic CGD. Eligibility: Adults aged 18 and older with CGD who have not had success with other treatments and who are enrolled on NIH study # 93-I-0119. Design: Participants will be screened with the following: Physical exam Medical history Blood, urine, and stool tests Pregnancy test, if needed An upper gastrointestinal endoscopy and/or colonoscopy, if needed for their symptoms. Tissue samples will be collected. Skin assessment, if needed Participants will repeat some screening tests at visits. Participants will complete questionnaires about their general health and how CGD affects their daily life. Photographs will be taken of their skin, if needed. They will have lung function tests, if needed. They will have a computed tomography (CT) scan of the chest, abdomen, and pelvis, if needed. A CT scan uses X-rays to create pictures of the inside of the body. Participants will gradually reduce the amount of some CGD medicines they take. Then they will take tofacitinib as a pill twice a day or once a day for 3 months. They will keep a drug diary. They will have monthly study visits. They will have a follow-up visit about 1 month after their last study drug visit. Participation will last for about 6 months....

Key facts

Study ID: NCT05104723
Run by: National Institute of Allergy and Infectious Diseases (NIAID)
People needed: 10
Starts: 2022-08-12
Expected to finish: 2026-05-04
Last updated by the study team: 2026-05-07

Who can join

Age: 18 and older, up to 99. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

An individual who meets any of the following criteria will be excluded from participation in this study:
Known allergy or hypersensitivity to any component of the tofacitinib formulation.
Known allergy or hypersensitivity to any component of the acyclovir or valacyclovir formulation.
Active or latent tuberculosis.
Infection with hepatitis B or C, or HIV.
Active EBV infection.
History of GI perforation.
History of malignancy (except for nonmelanoma skin cancer).
Concomitant use of acetylsalicylic acid and/or NSAIDs that cannot be safely discontinued.
History of connective tissue disease.
End-stage renal disease or chronic kidney disease, defined as estimated glomerular filtration rate (eGFR) <15 mL/min/1.73 m\^2.
Evidence of other invasive or systemic fungal, bacterial, or viral infections requiring therapy.
Pregnant.
Breastfeeding.
Current use of inhaled tobacco products, vaping products, inhaled cannabis, or other illicit inhaled drugs.
Current use of strong CYP3A4 inducer and unable to discontinue at least 14 days before beginning of tofacitinib regimen.
Concomitant medical condition that could interfere with study drug evaluation or that is a contraindication to the proposed investigational treatment based upon known agent safety profile or toxicities.
Any of the following laboratory abnormalities:
Alkaline phosphatase and either ALT or AST >2.5 times the upper limit of normal (ULN).
Serum creatinine level >5 mg/dL.
Absolute neutrophil count (ANC) <1000 cells/microL.
Lymphocyte count <500 cells/microL.
History of unprovoked deep vein thrombosis, pulmonary embolism, or other thrombotic events.
History of heart failure.
Current immobilization, ie, bed-bound and unable to ambulate.

Where it is running

National Institutes of Health Clinical Center — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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