Development and Characterization of Functional Assays for the Analysis of Inflammation Signaling Pathways
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: blood test.
- Who it may be relevant to
- Registry conditions: Autoinflammatory Disease. Basic parameters: from 4 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
Auto-inflammatory diseases are part of a heterogeneous group of illnesses manifested by an inflammatory reaction in its initial phase (innate immunity) that is activated inappropriately: either because the reaction is too strong, or because it is not justified (e.g. in the absence of infection). Autoinflammatory diseases are often initially described as genetic in origin (i.e. hereditary or familial), and preferentially affect children or young adults. However, the preponderance of auto-inflammation as a cause of symptoms has led to the development of a number of other diseases. In some cases, autoinflammatory diseases may also remain "unclassified". Generally speaking, autoinflammatory diseases manifest as recurrent attacks of fever, rash and joint pain. Certain signs are more specific to certain diseases, such as urticaria, abdominal pain, mouth ulcers or cervical lymph nodes... It is above all the repetition of the attacks and their unprovoked nature that attract the attention of the patient and the doctor. These attacks are systematically associated with an increase in inflammation markers in the blood. At present, not all inflammation pathways have been identified. With this study, investigator aim to characterize rare autoinflammatory disease variants and develop relevant cellular models to study inflammation pathways.
Interventions
- Other blood test
blood test as part of routine care
Primary outcome measures
- The main judgment criterion will be analysis of the Cytokine/chemokine release assays. [Time frame: At inclusion Day 0]
Eligibility criteria
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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT06971289 · 69HCL25_0250