Efficacy and Safety of Tofacitinib in Refractory Blau Syndrome

NCT06660329 | Enrolling By Invitation Phase 4 DMC

• 1 other identifier: K6581
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Blau Syndrome

Keywords

Blau syndrome; Janus kinase inhibitors

Outcome Measures

Primary Outcomes (1)

• rate of remission or low disease activity

  From enrollment to the end of treatment at 6 months

Secondary Outcomes (5)

• 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

• 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

Study Arms (1)

Janus kinase inhibitors

EXPERIMENTAL

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.

Drug: Janus Kinase Inhibitor

Interventions

Janus Kinase Inhibitor DRUG

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.

Janus kinase inhibitors

Eligibility Criteria

• Age: 0 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Peking Union Medical College Hospital: lead

Study Sites (1)

Peking Union Medical College Hospital

Beijing, 100730, China

Location

MeSH Terms

Conditions

Blau syndrome

Interventions

Janus Kinase Inhibitors

Intervention Hierarchy (Ancestors)

Protein Kinase Inhibitors; Enzyme Inhibitors; Molecular Mechanisms of Pharmacological Action; Pharmacologic Actions; Chemical Actions and Uses

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: October 22, 2024
• First Posted: October 28, 2024
• Study Start: October 1, 2024
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): October 1, 2028
• Last Updated: October 28, 2024

Record last verified: 2024-10

Locations

CN (1)