What side effects are associated with this type of intervention?

Common treatments for Chronic Granulomatous Disease (CGD) include antibiotics and antifungals to prevent infections, and interferon-gamma to boost the immune system. For treatments similar to Tofacitinib, which is a Janus kinase (JAK) inhibitor, known side effects include increased risk of infections, elevated liver enzymes, headache, diarrhea, and potential cardiovascular issues such as bradyarrhythmia and macular edema. Patients may also experience gastrointestinal symptoms and elevated blood cholesterol levels.

What prior FDA approvals exist?

Chronic Granulomatous Disease (CGD) is primarily managed with antimicrobial prophylaxis and interferon-gamma to reduce infection risk. While Tofacitinib, a Janus kinase (JAK) inhibitor, is being studied for its potential in treating CGD, there are no specific FDA-approved JAK inhibitors for CGD as of now. The focus remains on managing infections and inflammation associated with the disease.

What other types of research exist?

Promising novel alternatives to Tofacitinib for Chronic Granulomatous Disease patients include other JAK inhibitors like Baricitinib and Upadacitinib, which have shown efficacy in various immune-mediated conditions. Additionally, newer therapies targeting different pathways, such as IL-23 inhibitors (e.g., Risankizumab) and IL-17 inhibitors (e.g., Secukinumab), may also be considered based on their success in treating other inflammatory diseases.

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Janus Kinase (JAK) Inhibitor

Tofacitinib for Chronic Granulomatous Disease

Phase 1 & 2

Waitlist Available

Led By Christa S Zerbe, M.D.

Research Sponsored by National Institute of Allergy and Infectious Diseases (NIAID)

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Aged >=18 years

Be older than 18 years old

Must not have

Current use of inhaled tobacco products, vaping product, inhaled cannabis, or other illicit inhaled drugs

History of unprovoked deep vein thrombosis, pulmonary embolism, or other thrombotic events

Timeline

Screening 3 weeks

Treatment Varies

Follow Up day 1 through day 120

Awards & highlights

No Placebo-Only Group

Summary

This trial is testing tofacitinib, a pill that reduces inflammation, in adults with chronic granulomatous disease (CGD) who haven't responded to other treatments. The drug aims to calm the overactive immune system in these patients. Tofacitinib has been approved for the treatment of rheumatoid arthritis, psoriatic arthritis, and ulcerative colitis.

Who is the study for?

Adults over 18 with Chronic Granulomatous Disease (CGD) who've had little success with other treatments can join this trial. They must be part of NIH study #93-I-0119, not have severe kidney disease or infections like hepatitis B/C, HIV, or active EBV. Pregnant individuals and those using certain drugs are excluded.

What is being tested?

The trial is testing Tofacitinib's safety and effectiveness for treating CGD complications. Participants will reduce current CGD meds and take Tofacitinib pills twice daily for three months while undergoing health assessments, including blood tests and CT scans.

What are the potential side effects?

Tofacitinib may cause side effects such as increased risk of infections due to immune system suppression, potential liver issues indicated by blood test changes, possible kidney problems, and a higher chance of developing certain skin conditions.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I am 18 years old or older.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I currently use inhaled tobacco, vaping products, cannabis, or other illicit drugs.

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I have had blood clots in my veins or lungs without a clear cause.

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I am not allergic to tofacitinib, acyclovir, or valacyclovir.

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I am taking aspirin or NSAIDs that cannot be stopped safely.

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I am infected with hepatitis B, C, or HIV.

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I have severe kidney disease.

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I have had a gastrointestinal perforation in the past.

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I am currently being treated for a serious infection.

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I am currently unable to move around freely.

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I have a history of heart failure.

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I have had cancer before, but not skin cancer.

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I have tuberculosis, whether active or not.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ day 1 through day 120

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~day 1 through day 120

This trial's timeline: 3 weeks for screening, Varies for treatment, and day 1 through day 120 for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Incidence of serious bacterial, mycobacterial, fungal, or viral infections defined as infections that require medical assessment or hospitalization.

Rate of AEs

Rate of infection.

+1 more

Secondary study objectives

CGD-related IBD: 1.Change in modified HBI. 2.Change in histopathological endoscopy.

Gene expression: 1.Change in IFN gene module enrichment score derived from whole blood RNA expression data.

Inflammatory lung disease: 1. Change in FEV1. 2. Change in DLCO. 3.Change in CT radiography. 4. Change in 6-minute walk.

+1 more

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: XELJANZ (tofacitinib)Experimental Treatment1 Intervention

Tofacitinib is self-administered orally at 5 mg twice per day or 11 mg once per day for 3 months.

0 / 13Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Chronic Granulomatous Disease (CGD) treatments often focus on enhancing immune response or reducing inflammation. Janus kinase (JAK) inhibitors like Tofacitinib block the JAK-STAT signaling pathway, crucial for producing inflammatory cytokines. This helps reduce chronic inflammation and granuloma formation, improving immune function and reducing complications in CGD patients.

Role of Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Regulating Neutrophil Antifungal Activity and the Oxidative Burst During Respiratory Fungal Challenge.Efficacy of Adjunctive Tofacitinib Therapy in Mouse Models of Tuberculosis.A human in vitro granuloma model for the investigation of multinucleated giant cell and granuloma formation.