Immunome project consortium for autoinflammatory disorders

• Conditions: autoinflammatory syndromes; problems with the immune system; rare systemic autoinflammatory disorders; 10003816

• Registration Number: NL-OMON52373
• Lead Sponsor: INSERM - Clinical Research Department (PRC)

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 15 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 20

Inclusion Criteria

Common criteria:
• Patients covered by health insurance
• Signature of the informed consent

For guSAID Patients
• Patients with active disease (presence of a flare) according to the specific
criteria of each disease
• SAID patients with an as yet unidentified genetic cause:
o Still Disease,
o Recurrent Pericarditis,
o Neutrophilic Dermatosis,
o Schnitzler syndrome,
o Vasculitis (Kawasaki, Behçet, Takayasu),
o Inflammation of unknown origin,
o Chronic osteitis.

For mSAID patients:
• Patients with active disease (presence of a flare) according to the specific
criteria for each disease
• Patients with monogenic hereditary SAID : FMF/TRAPS/HIDS/CAPS

For parents of guSAID patients
• First-degree biological relationship (no adoption) with the index patient
• Mother and Father over 18 years old

For negative control
• Subject free of inflammatory disorders and negative CRP at enrollment
• Subject without personal or familial history of SAID

Exclusion Criteria

- Pregnant women
- Protected major subjects (under guardianship or curatorship) or under
judicial protection
- Refusal to sign the consent
- Major subject unable to express his consent
- Subjects not affiliated to a social security

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Area under the curve (AUC) of the candidate algorithm able to discriminate<br /><br>between healthy controls and patients with SAID, either monogenic SAIDs<br /><br>(positive controls) or undiagnosed SAIDs.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Area under the curve (AUC) of the candidate algorithm able to disentangle the<br /><br>different diagnoses in the undiagnosed SAIDs group.</p><br>