New blood tests aim to unlock mysteries of rare inflammatory diseases
NCT ID NCT06971289
First seen Jun 26, 2026 · Last updated Jun 26, 2026
Summary
This study aims to better understand rare autoinflammatory diseases by developing blood tests that measure inflammation markers. Researchers will analyze blood samples from 60 adults and children with these conditions. The goal is to identify specific inflammation pathways, which could improve diagnosis and knowledge of these diseases.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could lead to better understanding and diagnosis of rare autoinflammatory diseases.
- What could go wrong
- This is an early-stage observational study, not a treatment trial. It may not directly benefit participants or lead to new therapies.
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 60 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Oct 2025
An estimate. Start dates often move.
- Expected to finish
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Oct 2029
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
Patients with rare autoinflammatory diseases. * minor patients, as 70% of rare autoinflammatory diseases are expressed and diagnosed in childhood (Familial Mediterranean Fever (FMF), Periodic Fever-Aphthous Stomatitis-Pharyngitis-Adenopathy Syndrome (PFAPA), Cryopyrin-Associated Periodic Syndrome (CAPS), Mevalonate Kinase Deficiency (MVK)). * adult patients, as certain rare autoinflammatory diseases are discovered in adulthood (FMF depending on variant, tumor necrosis factor receptor 1-related relapsing fever syndrome (TRAPS)) or are revealed in adulthood (adult STILL disease, Behçet syndrome, Schnitzler syndrome, VEXAS syndrome (Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic))
- Ages
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4 years and older
- 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.
For adults : Inclusion Criteria : * Major patient * Patient with a rare autoinflammatory disease * Patient who has given his or her consent to participate in research Exclusion Criteria : * Patient under legal protection or safeguard of justice or any other protective measure (guardianship, curatorship) * Patient with known infection with hepatitis B or C virus or human immunodeficiency virus (HIV) For Kids : Inclusion Criteria : * Minor patients (between 4 and 17 years of age) * Patient with a rare autoinflammatory disease. * No additional genetic research will be carried out as part of the project. * Parents/legal guardians of the child who have given their non-objection to participate in the research. Exclusion Criteria : * Patient under legal protection or safeguard of justice or any other protective measure (guardianship, curators) * Patient with known infection with hepatitis B or C virus or human immunodeficiency virus (HIV)
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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 official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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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.
More trials for these conditions
Other studies related to the condition(s) this trial covers.
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- Scientists hunt for genetic clues in rare childhood immune disorders
- NIH launches major study to unlock secrets of rare inflammatory diseases
- Scientists investigate mysterious genetic variants behind rare inflammatory diseases