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CompletedNCT05104723Updated May 7, 2026

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

A Phase 1/2 interventional study of XELJANZ (tofacitinib) in Chronic Granulomatous Disease, Inflammatory Gastrointestinal Disease and Inflammatory Skin Disease, sponsored by National Institute of Allergy and Infectious Diseases (NIAID). Completed at 1 site in United States. Open to participants aged 18 Years to 99 Years. Per ClinicalTrials.gov, last updated 2026-05-07.

Sponsored by National Institute of Allergy and Infectious Diseases (NIAID) · Phase 1/2, Interventional, and Treatment

Phase
Phase 1/2
Study type
Interventional
Enrollment
10
Allocation
Not applicable
Ages
18 Years to 99 Years
Sex
All
01

Study summary

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....

Read the detailed description

Study Description:

This is a phase 1/2 open-label trial to study the safety and to explore the biological efficacy of tofacitinib in patients with confirmed and symptomatic inflammatory complications (gastrointestinal [GI], skin, lung) related to chronic granulomatous disease (CGD). After a 3-month regimen, participants inflammatory complications will be objectively assessed.

Primary Objective:

To assess the safety of tofacitinib during the study period in patients with CGD.

Secondary Objectives:

  1. To assess the overall clinical response for the specific inflammatory manifestations.
  2. To assess the biological effect of tofacitinib on interferon (IFN)-induced gene expression in CGD.

Primary Endpoints:

  1. Rate of infection.
  2. Rate of treatment-related toxicities.
  3. Rate of adverse events (AEs).
  4. Incidence of serious bacterial, mycobacterial, fungal, or viral infections defined as infections that require medical assessment or hospitalization.

Secondary Endpoints:

CGD-related inflammatory bowel disease (IBD):

  1. Change in modified Harvey-Bradshaw Index (HBI).
  2. Change in histopathological endoscopy.

Inflammatory lung disease:

  1. Change in forced expiratory volume (FEV1).
  2. Change in diffusing capacity for carbon monoxide (DLCO).
  3. Change in computed tomography (CT) radiography.
  4. Change in 6-minute walk.

Skin disease:

1. Change in presence of skin flares or ulcerations by objective photography evaluation.

Gene expression:

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

02

Conditions studied

  • Chronic Granulomatous Disease
  • Inflammatory Gastrointestinal Disease
  • Inflammatory Skin Disease
  • Inflammatory Lung Disease

Keywords

  • Inflammatory Bowel Disease
  • Interferon (IFN)-induced gene expression
  • JAK Inhibitor
  • Ulcerative Colitis
  • Inflammatory skin/ lung disease
03

In context

Granulomatous Disease, Chronic

77 studies on the registry are indexed under Granulomatous Disease, Chronic; 17 are open to participants now.

This study's enrollment of 10 is below the median of 12 across 53 interventional studies indexed under Granulomatous Disease, Chronic.

Browse Granulomatous Disease, Chronic studies →

Lead sponsor

National Institute of Allergy and Infectious Diseases (NIAID) is the lead sponsor of 2,401 studies on the registry; 179 are open to participants now.

Of its 396 completed or terminated interventional studies of FDA-regulated products, 294 (74%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years to 99 Years
Sexes eligible
All
Accepts healthy volunteers
No

Inclusion criteria

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

  1. Aged >=18 years.
  2. Enrolled on NIH study 93-I-0119.

  3. Has a documented diagnosis of one or more of the following and is not controlled under current therapy (per investigator assessment):

    1. Endoscopically diagnosed mild-to-severe CGD-related IBD.
    2. Radiographic or PFT changes (DLCO\<60%, FEV1\<70%) consistent with CGD-related inflammatory lung disease.
    3. Any inflammatory skin disease related to CGD (eg, hidradenitis suppurativa or granulomatous skin disease).
  4. Able to provide informed consent.
  5. Participants who can become pregnant or who can impregnate their partner must agree to use at least one highly effective method of contraception when engaging in sexual activities that can result in pregnancy, starting at the first dose of tofacitinib until 2 days after the last dose. Highly effective methods include a barrier (eg, condom, diaphragm, cervical cap), intrauterine device, or hormonal contraception.

Exclusion criteria

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

  1. Known allergy or hypersensitivity to any component of the tofacitinib formulation.
  2. Known allergy or hypersensitivity to any component of the acyclovir or valacyclovir formulation.
  3. Active or latent tuberculosis.
  4. Infection with hepatitis B or C, or HIV.
  5. Active EBV infection.
  6. History of GI perforation.
  7. History of malignancy (except for nonmelanoma skin cancer).
  8. Concomitant use of acetylsalicylic acid and/or NSAIDs that cannot be safely discontinued.
  9. History of connective tissue disease.
  10. End-stage renal disease or chronic kidney disease, defined as estimated glomerular filtration rate (eGFR) \<15 mL/min/1.73 m\^2.
  11. Evidence of other invasive or systemic fungal, bacterial, or viral infections requiring therapy.
  12. Pregnant.
  13. Breastfeeding.
  14. Current use of inhaled tobacco products, vaping products, inhaled cannabis, or other illicit inhaled drugs.
  15. Current use of strong CYP3A4 inducer and unable to discontinue at least 14 days before beginning of tofacitinib regimen.
  16. 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.

  17. Any of the following laboratory abnormalities:

    1. Alkaline phosphatase and either ALT or AST >2.5 times the upper limit of normal (ULN).
    2. Serum creatinine level >5 mg/dL.
    3. Absolute neutrophil count (ANC) \<1000 cells/microL.
    4. Lymphocyte count \<500 cells/microL.
  18. History of unprovoked deep vein thrombosis, pulmonary embolism, or other thrombotic events.
  19. History of heart failure.
  20. Current immobilization, ie, bed-bound and unable to ambulate.
  21. Exposure to any investigational agent within the last 4 weeks.
  22. Any other finding that, in the judgment of the investigator, would interfere with, or serve as a contraindication to, protocol adherence, assessment of safety or reactogenicity, or a participant s ability to give informed consent, or increase the risk of having an adverse outcome from participating in the study.
05

Study design

Phase
Phase 1 / Phase 2
Primary purpose
Treatment
Allocation
Not applicable
Intervention model
Single group
Masking
None (open label)
Enrollment
10 participants (actual)

Study arms

  • Experimental
    XELJANZ (tofacitinib)

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

    Drug: XELJANZ (tofacitinib)

Interventions

  • DrugXELJANZ (tofacitinib)

    The XELJANZ 5-mg tablets or 11-mg XR tablets will taken orally twice daily or once daily, respectively, in this study.

06

What researchers measure

Primary outcomes

  1. Rate of treatment-related toxicities.

    To assess the safety of tofacitinib during the study period in patients with CGD.

    Time frame: Day 1 through Day 120

  2. Rate of infection.

    To assess the safety of tofacitinib during the study period in patients with CGD.

    Time frame: Day 1 through Day 120

  3. Rate of AEs

    To assess the safety of tofacitinib during the study period in patients with CGD.

    Time frame: Day 1 through Day 120

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

    To assess the safety of tofacitinib during the study period in patients with CGD.

    Time frame: Day 1 through Day 120

Secondary outcomes

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

    To assess the overall clinical response for the specific inflammatory manifestations.

    Time frame: Day 90

  2. Skin disease: 1.Change in presence of skin flares or ulcerations by objective photography evaluation.

    To assess the overall clinical response for the specific inflammatory manifestations.

    Time frame: Day 90

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

    To assess the overall clinical response for the specific inflammatory manifestations.

    Time frame: Day 90

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

    To assess the biological effect of tofacitinib on IFN-induced gene expression in CGD.

    Time frame: Day 90

07

Study locations

1 site
  • National Institutes of Health Clinical Center
    Bethesda, Maryland 20892, United States
08

References and documents

Publications

  • Panes J, Sandborn WJ, Schreiber S, Sands BE, Vermeire S, D'Haens G, Panaccione R, Higgins PDR, Colombel JF, Feagan BG, Chan G, Moscariello M, Wang W, Niezychowski W, Marren A, Healey P, Maller E. Tofacitinib for induction and maintenance therapy of Crohn's disease: results of two phase IIb randomised placebo-controlled trials. Gut. 2017 Jun;66(6):1049-1059. doi: 10.1136/gutjnl-2016-312735. Epub 2017 Feb 16. PubMed 28209624 ↗
  • Henrickson SE, Jongco AM, Thomsen KF, Garabedian EK, Thomsen IP. Noninfectious Manifestations and Complications of Chronic Granulomatous Disease. J Pediatric Infect Dis Soc. 2018 May 9;7(suppl_1):S18-S24. doi: 10.1093/jpids/piy014. PubMed 29746679 ↗

Individual participant data

Plan to share: Undecided

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on May 7, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT05104723
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
Responsible party
Sponsor
First posted
Nov 3, 2021
Start date
Aug 12, 2022
Primary completion
May 4, 2026
Completion
May 4, 2026
Last update
May 7, 2026

Study contacts

Christa S Zerbe, M.D.
principal investigator · National Institute of Allergy and Infectious Diseases (NIAID)

Oversight

FDA-regulated drug
Yes
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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