Lupus-like autoimmunity and increased interferon response in patients with STAT3-deficient hyper-IgE syndrome.
Rishi R Goel, Shuichiro Nakabo, Brian L P Dizon...
https://pubmed.ncbi.nlm.nih.gov/32768442Actively Recruiting
Phase 1
Age: 12Years - 120Years
All Genders
ID07262983
A Pilot Study to Evaluate the Safety and Tolerability of Baricitinib in Patients With Job's Syndrome With Lupus-like Disease and/or Atopic Dermatitis
Led by National Institute of Allergy and Infectious Diseases (NIAID) · Updated on 2026-06-08
20
Participants Needed
1
Research Sites
21 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are evaluating baricitinib, a drug approved for other immune system diseases, to see if it is safe and tolerable for people aged 12 and older who have autosomal dominant hyper-IgE syndrome (Job syndrome) with lupus-like disease or atopic dermatitis (skin rash). This pilot trial aims to study how baricitinib affects symptoms, infections, quality of life, and immune system markers in this rare genetic disorder that affects skin, lungs, blood vessels, connective tissue, and bones. Participants will first complete a 3-month screening and lead-in period without taking the study drug, during which they will continue their usual medical care and have phone calls with the study team. After this, they will take baricitinib tablets by mouth once daily for 6 months, starting at a low dose and potentially increasing to a higher dose based on safety evaluations. The study involves 5 clinic visits, 4 remote visits, and 2 phone visits over 9 months. Various tests, including blood and urine samples, skin biopsies, and blood flow assessments, will be performed throughout the study. During participation, individuals will undergo physical exams, laboratory tests, and questionnaires to monitor disease activity, infections, skin symptoms, lupus-like disease, and quality of life. Researchers will closely track adverse events and infections as primary outcomes. Additional assessments include measuring disease severity scores, immune markers, vascular function, and skin microbiome changes. Safety monitoring continues through the entire study period, with detailed evaluations before, during, and after treatment.
CONDITIONS
Brief Title
Evaluating the Safety and Tolerability of Baricitinib in Patients With Job Syndrome With Lupus-Like Disease and/or Atopic Dermatitis
Who Can Participate
Age: 12Years - 120Years
All Genders
Eligibility Criteria
You may qualify if you...
- Able to understand and provide informed consent or assent
- Aged 12 years or older
- Documented STAT3 variant causing hyper-IgE syndrome
- Enrollment in NIH protocol 00-I-0159 for hyper-IgE syndrome
- Presence of systemic lupus erythematosus (SLE) meeting specific classification criteria or atopic dermatitis with EASI score ≥16 and at least 10% body surface area affected
- Ability to take oral medication and willingness to follow study treatment
- Stable glucocorticoid dose less than 10 mg daily for 30 days prior to Day 0
- Stable dose of hydroxychloroquine or other antimalarials for 90 days prior to Day 0, within specified maximum doses
- Stable dose of lipid-lowering medications for 30 days prior to Day 0
- Individuals of reproductive potential must agree to use effective contraception during the study
You will not qualify if you...
- Known allergy to baricitinib or other JAK inhibitors
- Use of investigational drugs within 6 months prior to Day 0, except authorized COVID-19 vaccines or therapies
- Participation in another investigational drug study during this trial
- Use of systemic immunosuppressive agents within 90 days prior to Day 0, except stable low-dose steroids
- Treatment with rituximab within 6 months prior to Day 0
- Current treatment with certain immunomodulatory drugs or biologics
- Treatment with cyclophosphamide or pulse methylprednisolone within 6 months prior to Day 0
- High cholesterol or triglyceride levels within 90 days prior to Day 0
- History of alcohol or drug abuse within 6 months prior to Day 0
- Significant laboratory abnormalities including liver, blood cell counts, or kidney function
- Planned major surgery during the study
- Plans to receive live vaccines within 1 month before starting baricitinib
- Other immune disorders besides Job syndrome, lupus-like disease, or atopic dermatitis
- Active invasive or recurrent opportunistic infections
- Active tuberculosis or untreated latent tuberculosis without evaluation
- HIV infection
- Untreated hepatitis B or C infection
- Unwillingness to take prophylactic medication if needed
- BK or JC viremia at screening
- Active infection requiring antimicrobials unresolved 14 days before treatment
- Active severe organ disease needing immediate immunosuppression
- History of certain cancers unless in remission for specified periods
- Use of prohibited medications or procedures during the study
- Pregnancy or breastfeeding
- Current dialysis treatment
- Medical conditions posing risk or interfering with study participation, including certain heart and vascular diseases, psychiatric illness, or organ impairment
- Known increased risk factors for major adverse cardiovascular events
- History of gastrointestinal perforation or diverticulitis with high risk
- Use of drugs interacting with baricitinib such as strong OAT3 inhibitors
- Uncontrolled thyroid disease as determined by investigators
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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2
3
Your Study Journey
Screening
Duration - Up to 3 months prior to treatment start
Participants are screened for eligibility to participate in the trial.
Treatment
Duration - 180 days
Participants receive open-label baricitinib treatment, starting with 2 mg once daily for 90 days, followed by a dose increase to 4 mg once daily for another 90 days, pending safety evaluation.
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
A
Alexandra F Freeman, M.D.
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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Published Research Related To This Trial
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations.
Pilar Blanco Lobo, Paloma Guisado-Hernández, Isabel Villaoslada...
https://pubmed.ncbi.nlm.nih.gov/35507130Phase 1 double-blind randomized safety trial of the Janus kinase inhibitor tofacitinib in systemic lupus erythematosus.
Sarfaraz A Hasni, Sarthak Gupta, Michael Davis...
https://pubmed.ncbi.nlm.nih.gov/34099646