Effective Treatment of Jak1/3 Inhibitor in Blau Syndrome (inapplicable)

Exploring the Clinical Features and Factors Related to Efficacy in Blau Syndrome: A Retrospective Observational Study

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.

Study Overview

• Status: Enrolling by invitation
• Conditions: Blau Syndrome
• Intervention / Treatment: Drug: Tofacitinib

Detailed Description

Blau Syndrome (BS) is a monogenic systemic autoinflammatory disease characterized by dominantly inherited granulomatous inflammation due to mutations in nucleotide-binding oligomerization domain 2 gene (NOD2). Traditionally associated with a clinical trial of arthritis, dermatitis, and uveitis, recent observations have expanded its recognized manifestations to include systemic inflammatory features, skin or cutaneous vasculitis, and multi-organ involvement. Despite the rarity of BS, significant advances have been made through multi-center collaborations. Current studies, primarily retrospective, highlight the clinical diversity of BS, including cases with disease-causing NOD2 mutations but lacking the typical clinical trial . In response to gaps in understanding of BS's pathogenic mechanisms, the investigators initiated a retrospective observational study to collect detailed clinical data and perform whole exome sequencing, specifically targeting NOD2 mutations and STAT3 rs2293152 phenotypic variations to explore their relationships with therapeutic responses.

• Study Type: Observational
• Enrollment (Estimated): 24

Contacts and Locations

Study Locations

• China
  • Hubei
    • Wuhan, Hubei, China, 430030
      • Yikai YU

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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

Description

Inclusion Criteria:

1. 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;
2. Whole exon detection indicated characteristic mutations of NOD2 gene

Exclusion Criteria:

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

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
glucocorticoid+ DMARDs
glucocorticoid+TNFi
glucocorticoid+Tofacitinib	Drug: Tofacitinib; If a patient does not respond well to DMARDs treatment, then Tofacitinib or TNFi treatment may be used instead.; Other Names: TNFi

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
clinical responses	Inefficacy,Partial response, Good response,Clinical remission	through study completion, an average of 1 year

Collaborators and Investigators

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

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2017
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: November 10, 2024
• First Submitted That Met QC Criteria: November 13, 2024
• First Posted (Actual): November 14, 2024

Study Record Updates

• Last Update Posted (Actual): January 27, 2026
• Last Update Submitted That Met QC Criteria: January 25, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: retrospective; Janus kinase inhibitors; Blau syndrome
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Pathologic Processes; Joint Diseases; Disease; Eye Diseases; Uveal Diseases; Blau syndrome; Janus Kinase Inhibitors; Molecular Mechanisms of Pharmacological Action; Enzyme Inhibitors; Protein Kinase Inhibitors; tofacitinib
• Other Study ID Numbers: TJ-IRB202409051; 201271031432 (Other Grant/Funding Number: Wuhan Scientific Funding for young investigators)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Not shared. Contact the researcher if necessary.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: Yes