Efficacy and Safety of Tofacitinib in Refractory Blau Syndrome

Chinese Academy of Medical Sciences & Peking Union Medical College

Status and phase: Invitation-only; Phase 4

Conditions: Blau Syndrome

Treatments: Drug: Janus Kinase Inhibitor

Study type: Interventional

Funder types: Other

Identifiers

NCT06660329

K6581

Details and patient eligibility

About

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.

Enrollment: 30 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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30 participants in 1 patient group

Janus kinase inhibitors

Experimental group

Description:

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.

Treatment:

Drug: Janus Kinase Inhibitor