Systemic autoinflammatory diseases (SAIDs) are a set of rare clinically and genetically heterogeneous conditions. The project proposes to identify novel genes and specific signatures in subgroups of patients with SAIDs.
Eligibility
Sex
ALL
Min age
1 Week
Max age
120 Years
Healthy volunteers
Accepted
Inclusion Criteria:
* A patient presenting with a clinical and biological aseptic inflammatory syndrome associating one or more of the following signs: spontaneously resolving fever, abdominal (pain, diarrhea), locomotor (arthralgia, myalgia), thoracic (pain, pericarditis), cutaneous, sensory (uveitis, deafness), or renal (amyloidosis) involvement.
Exclusion Criteria:
* Adult subject to legal protection measures (guardianship, curatorship, safeguard of justice).
Primary outcome measure(s)
To identify SAIDs disease-causing mutations and genes and to explore specific biological signatures. — Anytime in the period of 10 years Molecular studies will be performed through the use of a SAID next generation sequencing (NGS) gene panel, followed by whole exome/genome sequencing (WES/WGS) in patients with no obvious genetic abnormality identified by the gene panel. When possible trio studies (the patient and his parents) will be performed in order to facilitate the interpretation of the molecular variants. Transcriptomics and cytokines profiles will be performed on whole blood cells to identify weakly expressed genes/proteins and by single cell experiments in order to assess cell-specific expression. These data will permit to better shape functional studies and to explore specific biological signatures.
To identify novel and better assess the disease pathways — Anytime in the period of 10 years Functional studies will be performed to evaluate the pathogenicity of the identified molecular variants, to assess the involvement of new candidate genes in SAIDs, to characterize the molecular networks to which the corresponding proteins belong and to open up new therapeutic avenues.
Trial sites (1)
Facility
City
Region
Status
Trousseau Hospital
Paris
France
Recruiting
More Institut National de la Santé Et de la Recherche Médicale, France trials in France
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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