Main Objectives: To collect clinical data and biological samples derived from blood (plasma, serum, cells and DNA) as well as urine and stool to perform multi-omic and functional biological assays. The resulting data will be integrated and analyzed…
ID
Source
Brief title
Condition
- Autoimmune disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
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.
Secondary outcome
Area under the curve (AUC) of the candidate algorithm able to disentangle the
different diagnoses in the undiagnosed SAIDs group.
Background summary
The rare SAIDs constitute a set of diseases that can be hereditary, with no
specific symptoms (fevers, rash, joint pain ...) and which have phenotypic
similarities.
These diseases can be divided into two groups:
- Autoinflammatory monogenic diseases for which mutations have been identified:
familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome
(TRAPS), hyper-IgD syndrome or partial deficiency of mevalonate kinase (HIDS),
Periodic syndrome associated with cryopyrinopathies or cold family urticaria
(CAPS)
- Genetically undiagnosed diseases for which no genetic mutation has been
identified and for which the diagnosis is based on the elimination of any other
cause of disease: Still's disease, recurrent pericarditis, neutrophilic
dermatosis, Schnitzler syndrome, vasculitis, inflammation of unknown origin and
chronic osteitis of the child or the adult.
At present, the causes and mechanisms of these diseases are poorly understood
and their diagnosis is difficult and time-consuming, often leading to
misdiagnosis. On average, up to 5 inadequate or inefficient treatments are
prescribed to each patient with SAID-related conditions before a correct
diagnosis is made and initiation of adequate immunomodulating drugs.
Study objective
Main Objectives:
To collect clinical data and biological samples derived from blood (plasma,
serum, cells and DNA) as well as urine and stool to perform multi-omic and
functional biological assays. The resulting data will be integrated and
analyzed using bioinformatics, statistical and machine learning methods and
will lead to the development of diagnostic classification algorithms
(signatures) for SAIDs.
Secondary objectives:
• To describe genetic mutations (or combinations of genetic mutations),
proteomics or microbiome alterations associated with SAID diagnoses compared to
negative controls,
• To describe the potential deregulation of inflammasome functions
• To assess the role of cytokine network disequilibrium in the expression of
SAIDs,
• To explore inflammation resolution processes by measuring the activity of
inflammation resolution effectors/regulators,
• To identify candidate signatures, i.e., biomarker-based algorithms able to
classify a given patients as suffering from SAID, through a big data approach;
• To compare the omics strategy for diagnosis to the classical definition with
clinico-biological criteria
• To predict response to targeted therapies according to the identified
pathogenic pathway
Study design
ImmunAID cohort is a prospective cohort study of rare autoinflammatory diseases
matching with multiple control groups. Case/control diagnostic accuracy study.
Study burden and risks
Expected benefits: Some participants may expect immediate benefit due to their
participation in the study. Indeed, the absence of optimal diagnostic tools for
SAIDs justifies this protocol who will bring valuable information and improve
patient*s treatment.
Foreseeable risks: The risks due to participation in this study are limited,
and mainly linked to those arising from the biological sampling. Thus,
participants do not incur any substantial risk by participating to this
protocol.
ITMO Santé Publique Biopark, Bâtiment A, rue de la Croix Jarry 8
Paris 75013
FR
ITMO Santé Publique Biopark, Bâtiment A, rue de la Croix Jarry 8
Paris 75013
FR
Listed location countries
Age
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
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| ClinicalTrials.gov | NCT03919110 |
| CCMO | NL71032.078.20 |