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NCT Number: NCT06971289

Development and Characterization of Functional Assays for the Analysis of Inflammation Signaling Pathways

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.

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Key information

Conditions

Autoinflammatory Disease

Age range

4 year and older

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Blood Test

Other

blood test as part of routine care

Primary outcomes

The main judgment criterion will be analysis of the Cytokine/chemokine release assays.

Time frame: At inclusion Day 0

Comparison of pro- and anti-inflammatory cytokine concentrations (IL-8, TNF (Tumor Necrosis Factor), chemokine CC ligand 3 and 4 concentrations (CCL3, CCL4) by ELISA in cells supernatants according to the inflammatory pathway involved.

Study contacts

Contact information is provided by the study sponsor or research team.

Nora Martel

CONTACT

[email protected]

04 72 07 13 40 ext. +33

Yvan Jamilloux, MD

CONTACT

[email protected]

04.26.73.26.36 ext. +33

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Acronym: DEFI

Important dates

Study start: 2025
Primary completion: 2029
Study completion: 2029
First posted: May 14, 2025
Registry last updated: Sep 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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