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Trial record 35 of 279 for:    Genetic Diseases, Inborn AND Genome

Immunome Project Consortium for Autoinflammatory Disorders (ImmunAID)

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ClinicalTrials.gov Identifier: NCT03919110
Recruitment Status : Not yet recruiting
First Posted : April 18, 2019
Last Update Posted : April 19, 2019
Sponsor:
Information provided by (Responsible Party):
Institut National de la Santé Et de la Recherche Médicale, France

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.


Condition or disease Intervention/treatment
Autoinflammatory Diseases, Hereditary Diagnostic Test: Collection of biological samples

  Show Detailed Description

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Study Type : Observational
Estimated Enrollment : 1616 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Immunome Project Consortium for Autoinflammatory Disorders
Estimated Study Start Date : May 15, 2019
Estimated Primary Completion Date : May 15, 2022
Estimated Study Completion Date : May 15, 2022


Group/Cohort Intervention/treatment
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
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.

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
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.

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
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.

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
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.




Primary Outcome Measures :
  1. 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.


Biospecimen Retention:   Samples With DNA
plasma, serum, cells, DNA, as well as urine and stool


Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
Criteria

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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03919110


Contacts
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Contact: Bruno FAUTREL, MD, PhD 33 (0)1 42 17 78 01 bruno.fautrel@aphp.fr
Contact: Thibaut DEWAEL, Msc +32 4 366 72 41 thibaut.dewael@chuliege.be

Sponsors and Collaborators
Institut National de la Santé Et de la Recherche Médicale, France
Investigators
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Principal Investigator: Bruno FAUTREL, MD, PhD Department of RHeumatology, Groupe Hospitalier Pitié-Salpêtrière
Principal Investigator: Christian von FRENCKELL, MD, PhD CHU de Liège, Department of Rheumatology
Study Director: Vassili SOUMELIS, MD,PhD INSERM U932

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Responsible Party: Institut National de la Santé Et de la Recherche Médicale, France
ClinicalTrials.gov Identifier: NCT03919110     History of Changes
Other Study ID Numbers: C18-30
First Posted: April 18, 2019    Key Record Dates
Last Update Posted: April 19, 2019
Last Verified: April 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Institut National de la Santé Et de la Recherche Médicale, France:
Inflammation
Rheumatology
Additional relevant MeSH terms:
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Genetic Diseases, Inborn
Hereditary Autoinflammatory Diseases
Familial Mediterranean Fever
Skin Diseases, Genetic
Skin Diseases