Effective Treatment of Jak1/3 Inhibitor in Blau Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

24 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-01-01

Study Completion Date

2026-12-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Blau Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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glucocorticoid+ DMARDs

No interventions assigned to this group

glucocorticoid+TNFi

No interventions assigned to this group

glucocorticoid+Tofacitinib

Tofacitinib

Intervention Type DRUG

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

Interventions

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Tofacitinib

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

Intervention Type DRUG

Other Intervention Names

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TNFi

Eligibility Criteria

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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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No