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Molecular Diagnosis of Systemic Autoinflammatory Diseases

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.

Condition(s)Inflammatory Disease, Genetic Disease, Somatic Mutation, Molecular Sequence Variation, Molecular Pathway Deregulation
StatusRecruiting
Study typeObservational
SummarySystemic 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.
Who can participateInclusion 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).
Ages1 Week to 120 Years
SexAll
Accepts healthy volunteersYes
Lead sponsorInstitut National de la Santé Et de la Recherche Médicale, France
LocationsParis, France
Start date2022-05-18
NCT IDNCT05364294
Official listinghttps://clinicaltrials.gov/study/NCT05364294

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