Blau SyndromeinapplicableNCT06688838
Effective Treatment of Jak1/3 Inhibitor in Blau Syndrome
An observational study of Blau Syndrome, run by Tongji Hospital at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Blau Syndrome
- What is being tested?
- Tofacitinib
- How many people
- 24 participants
- Where
- 1 siteChina
- Study dates
- 1 Jan 2017to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Retrieve patients diagnosed with Blau syndrome from the medical record system between January 2017 and December 2023.
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: 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.
Read the 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.
- Conditions
- Blau Syndrome
- Being tested
- Tofacitinib
- Keywords
- Blau syndrome, retrospective, Janus kinase inhibitors
- Medical subject headings
- Blau syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TofacitinibDrug
Also called TNFi
If a patient does not respond well to DMARDs treatment, then Tofacitinib or TNFi treatment may be used instead.
| Study group | Role | What they receive |
|---|---|---|
| glucocorticoid+ DMARDs | glucocorticoid+ DMARDs | |
| glucocorticoid+TNFi | glucocorticoid+TNFi | |
| glucocorticoid+Tofacitinib | glucocorticoid+Tofacitinib Receives: Drug: Tofacitinib |
What is being measured
The primary outcome is the main question the study is designed to answer.
clinical responses
Inefficacy,Partial response, Good response,Clinical remission
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Nov 2024
- Study start1 Jan 2017
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Blau SyndromeStudies of the same condition, open and under way.
- More trials run by Tongji HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 24 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Tongji Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Affiliated Hospital of Yunnan University, Pfizer, Wuhan Women and Children's Medical Center, Johns Hopkins Community Physicians
- Responsible party
- Principal investigator, YIKAI YU, Tongji Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06688838
- Sponsor's protocol ID
- TJ-IRB202409051
- Other IDs
- 201271031432
- Acronym
- inapplicable
- Status last verified
- Jan 2026
- First submitted
- 10 Nov 2024
- Last updated
- 27 Jan 2026
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No: Not shared. Contact the researcher if necessary.
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.
PubMed 40233998
Study at a glance
From the registry record, last updated by the sponsor on 27 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploring the Clinical Features and Factors Related to Efficacy in Blau Syndrome: A Retrospective Observational Study
- ClinicalTrials.gov ID
- NCT06688838
- Acronym / sponsor ID
- inapplicable / TJ-IRB202409051
- Conditions
- Blau Syndrome
- Keywords
- Blau syndrome, retrospective, Janus kinase inhibitors
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 24 participants (estimated)
- Lead sponsor
- Tongji HospitalUniversity, hospital or other
- Collaborators
- Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Affiliated Hospital of Yunnan University, Pfizer, Wuhan Women and Children's Medical Center, Johns Hopkins Community Physicians
- Study start
- 1 Jan 2017 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 14 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| glucocorticoid+ DMARDs | – | –glucocorticoid+ DMARDs |
| glucocorticoid+TNFi | – | –glucocorticoid+TNFi |
| glucocorticoid+Tofacitinib | – | Drug: Tofacitinibglucocorticoid+Tofacitinib |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Retrieve patients diagnosed with Blau syndrome from the medical record system between January 2017 and December 2023.
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| TofacitinibAlso: TNFiIf a patient does not respond well to DMARDs treatment, then Tofacitinib or TNFi treatment may be used instead. | Drug | glucocorticoid+Tofacitinib |
Primary outcome
clinical responses
Time frame: through study completion, an average of 1 year
Inefficacy,Partial response, Good response,Clinical remission
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jan 2026.
- Derived from this study: PubMed 40233998Hu 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.
- Individual participant dataSharing planned: No. Not shared. Contact the researcher if necessary.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Blau Syndrome, run by Tongji Hospital at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 27 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
clinical responses (time frame: through study completion, an average of 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06688838, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Jan 2026.