Autoinflammatory Diseases, HereditaryImmunAIDNCT03919110
Immunome Project Consortium for Autoinflammatory Disorders
An observational study of Autoinflammatory Diseases, Hereditary, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 1 year and olderHealthy volunteers can take part
- Conditions the study is for
- Autoinflammatory Diseases, Hereditary
- What is being tested?
- Collection of biological samples
- How many people
- 612 participants
- Where
- 1 siteFrance
- Study dates
- 11 Dec 2019to 15 May 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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)
Show all 21Show fewer
- 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
- Patients with monogenic hereditary SAID
- Patients diagnosed according to the specific diagnostic criteria of each diseases. EUROFEVER criteria for clinical definition plus genetic criterion
- Patients with active disease (presence of a flare and/ or persistent chronic inflammation) :
- Patients older than 6 months can be recruited
- Patients with health insurance
- Signature of the informed consent form
- Subject free of inflammatory disorders and negative CRP at enrollment
- Subject without personal or familial history of SAID
- Subject aged from 10 to 60 years old
- Subject with health insurance
- Signature of the informed consent form
Who cannot join
- 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
Show all 42Show fewer
- 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)
- Any condition which in the Investigator's opinion makes it undesirable for the subject to -
- participate in the study or which would jeopardize compliance with the protocol
- Individuals deprived of liberty
- Inability to understand the local language
- Protected persons
- Active chronic infection included chronic viral infection (HIV, HBV, HCV…)
- Recent infection or antibiotic treatment
- 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
- Pregnancy
- Individuals deprived of liberty
- Inability to understand the local language
- Protected persons
- Active bacterial, viral, fungal, or opportunistic infections
- Recent infection or antibiotic treatment in the last 2 weeks
- History of any inflammatory, auto-inflammatory or auto-immune disease
- History of systemic corticosteroid or non-steroidal (NSAID) therapy within the last 4 weeks
- History of neoplasia with the exception of adequately treated basal and squamous cell -
- carcinoma of the skin, or carcinoma in situ of the cervix
- Evidence of immunocompromised
- End stage renal disease (eGFR <20 mL/min/1.73m2)
- Comorbidities requiring corticosteroid therapy, including those which have required three or more courses of systemic corticosteroids within the previous 12 months
- Pregnancy
- Current substance abuse or history of substance abuse within the past year.
- Lack of peripheral venous access
- Individuals deprived of liberty
- Inability to understand the local language
- Protected persons (under guardianship or curatorship)
Trial locations and contacts
1 site in 1 country.
France1 site
Hôpital Universitaire Pitié Salpêtrière
Paris, 75651 Paris Cedex 13
About this study
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
Read more
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.
Read the detailed description
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. To this end, investigators are building a collection of biological samples derived from blood (plasma, serum, cells and DNA) as well as urine and stool 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.
To better understand and identify the abnormalities leading to the onset of auto-inflammatory diseases, four groups will be constituted:
- a group of patients with auto-inflammatory diseases for which a genetic mutation has been identified.
- a group of subjects free from any auto-inflammatory disease.
- a group of patients suffering from an auto-inflammatory disease, poorly characterized; i.e. auto-inflammatory diseases for which clinicians are not certain on mechanisms leading to the onset of the disease.
- a group of parents of patients suffering from an auto-inflammatory disease, poorly characterized.
At a routine follow-up visit, the investigator will inform the participant about the nature and purpose of the study research.
If the participant agree, the participant will sign the consent to participate in this study and the tests investigators will administer for this study will take place during a consultation of approximately 2 hours.
In order to carry out the biological assays as well as the multiple "omics" analyses (genomics (on the whole genome), proteomics (on all proteins)), a blood sample will be taken depending on your weight and age and according to the recommendation in force (maximum of 11 × 7 mL).
The participant will also be asked to collect urine and stool using a kit designed for this purpose.
This research requires collecting from participant medical file the personal demographic data, medical data, medical imaging results and biological and genetic analyses. All these analyses will have been carried out as part of the diagnosis and management of participant disease.
Investigators will collect participant laboratory test results (immunology, serology, biochemistry, genetics...) in order to describe the characteristics of their disease.
During patient participation and in order to assess your quality of life, particiapnts will be asked to complete a specific questionnaire (SF-36, about 15 minutes). During this consultation you will also be asked to complete (i) a simple questionnaire that describes your functional abilities (HAQ, about 10 minutes), (ii) the AIDAI (Auto-inflammatory Disease Activity Index) score that allows you to evaluate the activity of your auto-inflammatory disease and (iii) a questionnaire focusing on your diet and gut function.
Depending on the case, a follow-up consultation at 3 months may be offered by the investigator. This visit will last a maximum of one hour and will be combined with a new blood test, a urine and stool collection and the completion of a questionnaire on diet and gut function .
Finally, a 12-month follow-up survey may be conducted by the investigator (by telephone or by medical file) to ensure your health status, for the sole purpose of the research.
- Conditions
- Autoinflammatory Diseases, Hereditary
- Being tested
- Collection of biological samples
- Keywords
- Inflammation, Rheumatology
- Medical subject headings
- Hereditary Autoinflammatory Diseases, Inflammation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Collection of biological samplesDiagnostic 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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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 Receives: 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. Receives: 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. Receives: Diagnostic Test: Collection of biological samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: [0-6] MONTHS
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Apr 2019
- Study start11 Dec 2019
- Primary completion15 May 2024
- Study completion15 May 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autoinflammatory Diseases, HereditaryStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 612 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Bruno FAUTREL, MD, PhD, Principal investigator, Department of RHeumatology, Groupe Hospitalier Pitié-SalpêtrièreChristian von FRENCKELL, MD, PhD, Principal investigator, CHU de Liège, Department of RheumatologyVassili SOUMELIS, MD,PhD, Study director, INSERM U932
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03919110
- Sponsor's protocol ID
- C18-30
- Acronym
- ImmunAID
- Status last verified
- Nov 2023
- First submitted
- 15 Apr 2019
- Last updated
- 16 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Immunome Project Consortium for Autoinflammatory Disorders
- ClinicalTrials.gov ID
- NCT03919110
- Acronym / sponsor ID
- ImmunAID / C18-30
- Conditions
- Autoinflammatory Diseases, Hereditary
- Keywords
- Inflammation, Rheumatology
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 612 participants (actual)
- Lead sponsor
- Institut National de la Santé Et de la Recherche Médicale, FranceOther government
- Study start
- 11 Dec 2019 (actual)
- Primary completion
- 15 May 2024 (actual)
- Study completion
- 15 May 2024 (actual)
- First posted
- 18 Apr 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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. To this end, investigators are building a collection of biological samples derived from blood (plasma, serum, cells and DNA) as well as urine and stool 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.
To better understand and identify the abnormalities leading to the onset of auto-inflammatory diseases, four groups will be constituted:
- a group of patients with auto-inflammatory diseases for which a genetic mutation has been identified.
- a group of subjects free from any auto-inflammatory disease.
- a group of patients suffering from an auto-inflammatory disease, poorly characterized; i.e. auto-inflammatory diseases for which clinicians are not certain on mechanisms leading to the onset of the disease.
- a group of parents of patients suffering from an auto-inflammatory disease, poorly characterized.
At a routine follow-up visit, the investigator will inform the participant about the nature and purpose of the study research.
If the participant agree, the participant will sign the consent to participate in this study and the tests investigators will administer for this study will take place during a consultation of approximately 2 hours.
In order to carry out the biological assays as well as the multiple "omics" analyses (genomics (on the whole genome), proteomics (on all proteins)), a blood sample will be taken depending on your weight and age and according to the recommendation in force (maximum of 11 × 7 mL).
The participant will also be asked to collect urine and stool using a kit designed for this purpose.
This research requires collecting from participant medical file the personal demographic data, medical data, medical imaging results and biological and genetic analyses. All these analyses will have been carried out as part of the diagnosis and management of participant disease.
Investigators will collect participant laboratory test results (immunology, serology, biochemistry, genetics...) in order to describe the characteristics of their disease.
During patient participation and in order to assess your quality of life, particiapnts will be asked to complete a specific questionnaire (SF-36, about 15 minutes). During this consultation you will also be asked to complete (i) a simple questionnaire that describes your functional abilities (HAQ, about 10 minutes), (ii) the AIDAI (Auto-inflammatory Disease Activity Index) score that allows you to evaluate the activity of your auto-inflammatory disease and (iii) a questionnaire focusing on your diet and gut function.
Depending on the case, a follow-up consultation at 3 months may be offered by the investigator. This visit will last a maximum of one hour and will be combined with a new blood test, a urine and stool collection and the completion of a questionnaire on diet and gut function .
Finally, a 12-month follow-up survey may be conducted by the investigator (by telephone or by medical file) to ensure your health status, for the sole purpose of the research.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Genetically Undiagnosed SAID Patients (guSAID) | – | Diagnostic Test: Collection of biological samplesadults 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. |
| Parents of guSAID patients | – | Diagnostic Test: Collection of biological samplesEnrollment 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 |
| Monogenic SAID patients (mSAID) | – | Diagnostic Test: Collection of biological samplesThis 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. |
| Patient Free of inflammatory disorders control subjects | – | Diagnostic Test: Collection of biological samplesIn order to set a reference / baseline for the identification of biomarkers the study will need non-inflammatory samples. |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (21 listed)
- 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
Key exclusion criteria (42 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Collection of biological samplesInvestigators 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. | Diagnostic test | Genetically Undiagnosed SAID Patients (guSAID), Monogenic SAID patients (mSAID), Parents of guSAID patients, Patient Free of inflammatory disorders control subjects |
Primary outcome
Area under the curve (AUC)
Time frame: [0-6] MONTHS
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Apr 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Bruno FAUTREL, MD, PhD principal investigator
Department of RHeumatology, Groupe Hospitalier Pitié-Salpêtrière
Christian von FRENCKELL, MD, PhD principal investigator
CHU de Liège, Department of Rheumatology
Vassili SOUMELIS, MD,PhD study director
INSERM U932
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autoinflammatory Diseases, Hereditary, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 21 inclusion and 42 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Area under the curve (AUC) (time frame: [0-6] MONTHS). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Apr 2025.