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
National Institute of Allergy and Infectious Diseases (NIAID)
Summary
Background: Autosomal dominant hyper-IgE syndrome (HIES), also called Job syndrome, is a genetic disorder that affects the immune system. It can cause skin and lung infections and problems with blood vessels, connective tissues, and bones. People with HIES often have lupus-like disease or atopic dermatitis (skin rash). Researchers want to know if a drug approved to treat other immune system diseases (baricitinib) can help people with HIES. Objective: To test baricitinib in people with HIES with lupus-like disease or skin rash. Eligibility: People aged 12 years and older with HIES with lupus-like disease or skin rash. Design: Participants will have 5 clinic visits, 4 remote visits, and 2 phone visits in 9 months. Participants will be screened. They will have a physical exam with blood and urine tests. They will have tests of the speed and pressure of blood flow through their body: Blood pressure cuffs will be placed on each arm and leg; electrodes will be placed on the wrists and a microphone on the chest. The study has a 3-month lead-in period. Participants will not take the study drug during this time. They will continue with their usual medical care. They will have 2 phone calls with the study team. Baricitinib is a tablet taken by mouth. Participants will take 1 or 2 tablets by mouth every day for 6 months. They will start with a low dose and may increase to a higher dose. Blood and urine tests will be repeated during each study visit. Other tests may also be repeated during some visits. A skin sample may also be taken....
Description
Study Description: This is an open-label, dose-titration, pilot trial to assess the safety of the Janus-associated kinase (JAK) inhibitor baricitinib in individuals with Job s syndrome with lupus-like features and/or atopic dermatitis (AD). Eligible participants will complete screening 3 months prior to the start of the trial and keep track of their infections and eczema to monitor Job s disease activity and ensure disease stability prior to initiation of baricitinib treatment. Those with stable disease will proceed to open-label treatment with baricitinib for 180 days. Primary Objective: To…
Eligibility
- Age range
- 12–120 years
- Sex
- All
- Healthy volunteers
- No
* INCLUSION CRITERIA: To be eligible to participate in this study, an individual must meet all of the following criteria: 1. Must be able to understand and provide informed consent or assent. 2. Aged \>=12 years. 3. Documented STAT3 variant causing hyper-IgE syndrome. 4. Enrollment in NIH protocol 00-I-0159, Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES). a. Presence of SLE and/or AD as follows: SLE patients should meet either Systemic Lupus International Collaborating Clinics (SLICC) or 2019 American College of Rheumatology (AC…
Interventions
- Drugbaricitinib
The planned duration of baricitinib treatment is 180 days. The treatment period will begin on Day 0 at dose level 1 (2 mg once daily) and will continue for 90 days. Following evaluation of safety, participants will be titrated to dose level 2 (4 mg once daily) provided the investigator determines it is safe and appropriate to do so. Study participants will continue on dose level 2 for 90 days.
Location
- National Institutes of Health Clinical CenterBethesda, Maryland