Immunome Project Consortium for Autoinflammatory Disorders

NCT03919110 | Completed

• 1 other identifier: C18-30
• Study Type: observational
• Target: 612
• Locations: 1 country
• Sites: 1

Brief Summary

Rare systemic auto inflammatory diseases are a group of diseases that can be inherited and have non specific symptoms (fevers, rashes, joint pain, etc.). These diseases can be divided into two groups:

• Diseases for which genetic mutations have been identified
• The so-called genetically undetermined diseases for which no genetic mutation has been identified and for which the diagnosis is based on the elimination of other causes of disease At present, the causes and mechanisms of these diseases are poorly understood and their diagnosis is difficult, often leading to misdiagnosis. The usual care integrates anti-inflammatory treatments (aspirin, colchicine, cortisone, biotherapies, etc.) and support for patients and their families by health professionals (doctors, nurses, physiotherapists, etc.). To date, a patient with one of these diseases can receive up to 5 inappropriate or ineffective treatments before the right diagnosis is made and the right therapy is put in place. The objective of this study is to develop rapid and effective diagnostic methods for these diseases by the identification of biological markers present in blood, urine or stool of patient in order to develop a rapid and efficient diagnostic method.

Conditions

Autoinflammatory Diseases, Hereditary

Keywords

Inflammation; Rheumatology

Outcome Measures

Primary Outcomes (1)

• Area under the curve (AUC)

  Area under the curve (AUC) of the candidate algorithm able to discriminate between healthy controls and patients with SAID, either monogenic SAIDs (positive controls) or undiagnosed SAIDs.

  [0-6] MONTHS

Study Arms (4)

Genetically Undiagnosed SAID Patients (guSAID)

adults and children, with different SAID of unknown pathogenesis, for which no specific mutations is identified and whose pathogenic mechanism remains unknown: * Still Disease, * Recurrent pericarditis, * Neutrophilic dermatosis, * Schnitzler, * Vasculitis (Kawasaki disease, Behçet disease, Takayasu arteritis), * Inflammation of unknown origin, * Chronic/recurrent osteitis.

Diagnostic Test: Collection of biological samples

Parents of guSAID patients

Enrollment of parents of guSAID patients is justified by the TRIO genomic analysis (patient plus two parents) of the guSAID patients without known mutations. Indeed, the TRIO based whole-exome sequencing helps to facilitate the interpretation of genotypes and improve genetic explorations

Diagnostic Test: Collection of biological samples

Monogenic SAID patients (mSAID)

This group of patients will serve as positive control to classify other diseases and encompass the following diseases: FMF, TRAPS, HIDS, and CAPS. Investigators aim at recruiting 50 patients per disease entity.

Diagnostic Test: Collection of biological samples

Patient Free of inflammatory disorders control subjects

In order to set a reference / baseline for the identification of biomarkers the study will need non-inflammatory samples.

Diagnostic Test: Collection of biological samples

Interventions

Collection of biological samples DIAGNOSTIC_TEST

Investigators are building a collection of biological samples to perform biological assays and multiple analyses so-called "omics": genomics (on the entire genome), proteomics (on all proteins) etc...This will make it possible to identify the genetic mutations or biological markers present or absent in these diseases, making it possible to confirm a diagnosis or to eliminate differential diagnoses.

Genetically Undiagnosed SAID Patients (guSAID); Monogenic SAID patients (mSAID); Parents of guSAID patients; Patient Free of inflammatory disorders control subjects

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

A total of 1616 subjects will be recruited. Four groups will be constituted: * patients with auto-inflammatory diseases for which a genetic mutation has been identified. This population will be the positive control. * subjects free from any auto-inflammatory disease. It will be the negative control. * patients suffering from an auto-inflammatory disease, poorly characterized; * parents of patients suffering from an auto-inflammatory disease, poorly characterized.

You may qualify if:

• SAID patients with an as yet unidentified genetic cause.
• Patients diagnosed according to the specific diagnostic criteria of each diseases. For each - subgroup, the diagnosis will be based on accepted criteria.
• Patients with active disease (presence of a flare) according to the specific criteria for each disease (Cf. Table 2)
• For age criteria, please refer to each subgroup
• Patients covered by a health insurance
• Signature of the informed consent (parents/legal representative if the patient is less than \<18 years old)

You may not qualify if:

• Active chronic infection included chronic viral infection (HIV, HBV, HCV…)
• Recent infection or antibiotic treatment in the last 2 weeks
• Systemic auto-immune disease
• Other etiology of fever (infection or neoplasia)
• Monogenic auto-inflammatory disease (other than FMF, HIDS, TRAPS, CAPS)
• Genetic macrophage activation syndrome
• Evidence of immuno-deficiency (e.g., transplant recipient, immunosuppressive treatment for other conditions etc.)
• Pregnancy
• Individuals deprived of liberty
• Inability to understand the local language
• Protected persons (under guardianship or curatorship)
• First-degree biological relationship (no adoption) with the index patient
• Mother and Father aged more than 18 years old
• Health insurance coverage
• Signature of the informed consent form

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

Hôpital Universitaire Pitié Salpêtrière

Paris, 75651 Paris Cedex 13, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

plasma, serum, cells, DNA, as well as urine and stool

MeSH Terms

Conditions

Hereditary Autoinflammatory Diseases; Inflammation

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Bruno FAUTREL, MD, PhD

  Department of RHeumatology, Groupe Hospitalier Pitié-Salpêtrière

  PRINCIPAL INVESTIGATOR

• Christian von FRENCKELL, MD, PhD

  CHU de Liège, Department of Rheumatology

  PRINCIPAL INVESTIGATOR

• Vassili SOUMELIS, MD,PhD

  INSERM U932

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 15, 2019
• First Posted: April 18, 2019
• Study Start: December 11, 2019
• Primary Completion: May 15, 2024
• Study Completion: May 15, 2024
• Last Updated: April 16, 2025

Record last verified: 2023-11

Locations

FR (1)