National Institute of Allergy and Infectious Diseases (NIAID)
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....
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…
* 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…
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.