Clinical trial NCT06971289: Development and Characterization of Functional Assays for the Analysis of Inflammation Signaling Pathways
Official title: Development and Characterization of Functional Assays for the Analysis of Inflammation Signaling Pathways
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Autoinflammatory Disease
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2025-05-14
Enrollment: 60
Sex: ALL
Minimum age (years): 4
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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))

Brief summary: 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.


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)

Primary outcomes:
measure: The main judgment criterion will be analysis of the Cytokine/chemokine release assays.
timeFrame: At inclusion Day 0
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
References: