Effective Treatment of Jak1/3 Inhibitor in Blau Syndrome

NCT06688838 | Enrolling By Invitation FDA Drug

• 2 other identifiers: TJ-IRB202409051201271031432
• Study Type: observational
• Target: 24
• Locations: 1 country
• Sites: 1

Brief Summary

To investigate the effectiveness of the JAK 1/3 inhibitor tofacitinib in treating Blau syndrome and explore the association between various clinical and genetic features and therapeutic responses within the cohort.

Conditions

Blau Syndrome

Keywords

Blau syndrome; retrospective; Janus kinase inhibitors

Outcome Measures

Primary Outcomes (1)

• clinical responses

  Inefficacy,Partial response, Good response,Clinical remission

  through study completion, an average of 1 year

Study Arms (3)

glucocorticoid+ DMARDs

glucocorticoid+ DMARDs

glucocorticoid+TNFi

glucocorticoid+TNFi

glucocorticoid+Tofacitinib

glucocorticoid+Tofacitinib

Drug: Tofacitinib

Interventions

Tofacitinib DRUG

If a patient does not respond well to DMARDs treatment, then Tofacitinib or TNFi treatment may be used instead.

Also known as: TNFi

glucocorticoid+Tofacitinib

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Retrieve patients diagnosed with Blau syndrome from the medical record system between January 2017 and December 2023.

You may qualify if:

• The patient must conform to the characteristic triad of granulomatous arthritis, uveitis, and dermatitis, or the characteristic non-caseous granuloma of BS indicated by skin or synovial biopsy;
• Whole exon detection indicated characteristic mutations of NOD2 gene

You may not qualify if:

• Patients with autoimmune diseases, including but not limited to lupus erythematosus, Sjogren's syndrome, vasculitis, ankylosing spondylitis, myositis, dermatomyositis, rheumatoid arthritis, etc.;
• combined with other neoplastic diseases, such as lymphoma, leukemia, etc.

Sponsors & Collaborators

• Johns Hopkins Community Physicians: collaborator
• Tongji Hospital: lead
• Union Hospital, Tongji Medical College, Huazhong University of Science and Technology: collaborator
• Affiliated Hospital of Yunnan University: collaborator
• Pfizer: collaborator
• Wuhan Women and Children's Medical Center: collaborator

Study Sites (1)

Yikai YU

Wuhan, Hubei, 430030, China

Location

Related Publications (1)

• Hu Y, Li P, Liu J, Zeng Z, Zhang X, Yin W, Xu H, Cai J, Yu Y. Effective Treatment of Janus Kinase 1/3 Inhibitor in Blau Syndrome From a Multicenter Retrospective Study in Central China. J Rheumatol. 2025 Aug 1;52(8):810-816. doi: 10.3899/jrheum.2024-0822.

  PMID: 40233998 DERIVED

MeSH Terms

Conditions

Blau syndrome

Interventions

tofacitinib

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: associate chief physician

Study Record Dates

• First Submitted: November 10, 2024
• First Posted: November 14, 2024
• Study Start: January 1, 2017
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: January 27, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)