Efficacy and Safety of Tofacitinib in Refractory Blau Syndrome

Phase 4

• Conditions: Blau Syndrome
• Interventions: Drug: Janus Kinase Inhibitor

• Registration Number: NCT06660329
• Lead Sponsor: Peking Union Medical College Hospital

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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2024-10
• Study Start: 2024-10-01
• Study First Submitted: 2024-10-22
• Study First Submitted QC: 2024-10-24
• Last Update Submitted: 2024-10-24
• Study First Posted: 2024-10-28
• Last Update Posted: 2024-10-28
• Primary Completion: 2027-10-01
• Study Completion: 2028-10-01

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 30

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Janus kinase inhibitors	Janus Kinase Inhibitor	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.

Primary Outcome Measures

Name	Time	Method
rate of remission or low disease activity	From enrollment to the end of treatment at 6 months

Secondary Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (1)

Peking Union Medical College Hospital; 🇨🇳 Beijing, China