New hope for rare blau syndrome: tofacitinib under the microscope
NCT ID NCT06688838
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study is looking at how well the drug tofacitinib works for people with Blau syndrome, a rare genetic condition that causes inflammation in the joints, eyes, and skin. Researchers will review medical records from 24 participants to see if tofacitinib helps control the disease. The goal is to find better treatment options for those who don't respond to standard therapies.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- tofacitinib
- What this could lead to
- If successful, this could point toward a more effective treatment option for people with Blau syndrome who do not respond to standard therapies.
- What could go wrong
- This is a small, early-stage observational study with only 24 participants, so results may not apply to everyone. Tofacitinib may cause side effects like increased infection risk.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 24 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jan 2017
- Expected to finish
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Dec 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Retrieve patients diagnosed with Blau syndrome from the medical record system between January 2017 and December 2023.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
The full official record for this study. This one lists no contact details, but it is the first place any would appear.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Yikai YU
Wuhan, Hubei, 430030, China
More trials for these conditions
Other studies related to the condition(s) this trial covers.