Autoinflammatory Diseases, Hereditary Clinical Trial
— ImmunAIDOfficial title:
Immunome Project Consortium for Autoinflammatory Disorders
| NCT number | NCT03919110 |
| Other study ID # | C18-30 |
| Secondary ID | |
| Status | Not yet recruiting |
| Phase | |
| First received | |
| Last updated | |
| Start date | May 15, 2019 |
| Est. completion date | May 15, 2022 |
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.
| Status | Not yet recruiting |
| Enrollment | 1616 |
| Est. completion date | May 15, 2022 |
| Est. primary completion date | May 15, 2022 |
| Accepts healthy volunteers | Accepts Healthy Volunteers |
| Gender | All |
| Age group | 1 Year and older |
| Eligibility |
Inclusion Criteria for guSAID Patients - 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) Exclusion Criteria for guSAID Patients: - 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) Inclusion criteria for parents of guSAID patients - 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 Exclusion criteria for parents of guSAID patients - 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 Inclusion criteria for mSAID patients - 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 Exclusion criteria for mSAID Patients - 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 Inclusion criteria for negative control - 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 Exclusion criteria for negative control - 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) |
| Country | Name | City | State |
|---|---|---|---|
| n/a | |||
| Lead Sponsor | Collaborator |
|---|---|
| Institut National de la Santé Et de la Recherche Médicale, France |
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | 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 |