Blau Syndrome
Conditions
Keywords
Blau syndrome, Janus kinase inhibitors
Brief summary
This is a prospective cohort study to observe the efficacy and safety of Tofacitinib in children with Blau syndrome (BS). The investigators would analyze the rate of remission or low disease activity after treatment as well as changes in inflammatory markers, patients' and physician's global assessment of disease activity to determine the efficacy and safety of Tofacitinib.
Interventions
Tofacitinib is used according to weight: 5\ \<7kg，2mg；7\ \<10kg，2.5mg；10\ \<15kg，3mg；15\ \<25kg，3.5mg；25\ \<40kg，4mg；≥40kg，5mg. All is twice a day.
Sponsors
Peking Union Medical College Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
0 Years to 18 Years
Healthy volunteers
No
Inclusion criteria
* Patients who have pathogenic mutation(s) in NOD2 gene; * Patients who have clinical manifestations such as granulomatous dermatitis, arthritis, uveitis, vasculitis, interstitial lung disease and so on; * Clinical remission was not achieved after ≥12 weeks of treatment with at least one immunosuppressant or biologics.
Exclusion criteria
Patients will not be included if meets any of the following criteria: * Being treated with IL-1 inhibitor, or other biological agents; * Pregnant and lactating women; * Serious organ function failure, expected life time less than 6 months.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| rate of remission or low disease activity | From enrollment to the end of treatment at 6 months |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| RCB(Response in Chinese children with Blau syndrome) 30, 50, 70 response rates | From enrollment to the end of treatment at 3, 6, 9, 12 months | — |
| Changes in inflammatory markers (including erythrocyte sedimentation rate, C reactive protein), cytokines (including IL-1β, IL-6, IL-17, IL-18, TNFα, IFN γ) and expression of type I interferon-stimulated genes over baseline | From enrollment to the end of treatment at 1,3, 6, 9, 12 months | Changes are standardized as the ratio of the numerical difference before and after treatment to the baseline value |
| Proportion of recurrent uveitis | From enrollment to the end of treatment at 12 months | — |
| Incidence of new organ involvement | From enrollment to the end of treatment at 1,3, 6, 9, 12 months | — |
| Number of participants with adverse effect | From enrollment to the end of treatment at 12 months | — |
Countries
China
Outcome results
None listed