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Enrolling by Invitation

NCT Number: NCT06660329

Efficacy and Safety of Tofacitinib in Refractory Blau Syndrome

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.

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Key information

Conditions

Blau Syndrome

Age range

0 year–18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 4

Primary location

Peking Union Medical College Hospital

Beijing, 100730, China

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

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.

Primary outcomes

  1. rate of remission or low disease activity

    Time frame: From enrollment to the end of treatment at 6 months

Secondary outcomes

  1. RCB(Response in Chinese children with Blau syndrome) 30, 50, 70 response rates

    Time frame: From enrollment to the end of treatment at 3, 6, 9, 12 months

  2. 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

    Time frame: 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

  3. Proportion of recurrent uveitis

    Time frame: From enrollment to the end of treatment at 12 months

  4. Incidence of new organ involvement

    Time frame: From enrollment to the end of treatment at 1,3, 6, 9, 12 months

  5. Number of participants with adverse effect

    Time frame: From enrollment to the end of treatment at 12 months

Sponsors and collaborators

Lead sponsor

Peking Union Medical College Hospital

Other

Registry information

Official study title

Efficacy and Safety of Tofacitinib in Patients with Refractory Blau Syndrome: a Prospective Cohort Study

Important dates

Study start
2024
Primary completion
2027
Study completion
2028
First posted
Oct 28, 2024
Registry last updated
Oct 28, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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