Molecular Diagnosis of Systemic Autoinflammatory Diseases

NCT05364294 | Recruiting

• 1 other identifier: C20-97
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Inflammatory Disease; Genetic Disease; Somatic Mutation; Molecular Sequence Variation; Molecular Pathway Deregulation

Keywords

Biomarkers

Outcome Measures

Primary Outcomes (2)

• To identify SAIDs disease-causing mutations and genes and to explore specific biological signatures.

  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.

  Anytime in the period of 10 years

• To identify novel and better assess the disease pathways

  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.

  Anytime in the period of 10 years

Secondary Outcomes (1)

• To propose personalized treatment options

  Anytime in the period of 10 years

Eligibility Criteria

• Age: 1 Week - 120 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Participants in this research will be recruited during a follow-up consultation for their condition.

You may qualify if:

• 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.

You may not qualify if:

• Adult subject to legal protection measures (guardianship, curatorship, safeguard of justice).

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (1)

Trousseau Hospital

Paris, 75012, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Collectionof blood samples in a cohort of SAIDs patients

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Irina GIURGEA

CONTACT

+33144735295; irina.giurgea@inserm.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 8, 2022
• First Posted: May 6, 2022
• Study Start: May 18, 2022
• Primary Completion (Estimated): May 31, 2032
• Study Completion (Estimated): May 2, 2033
• Last Updated: March 5, 2026

Record last verified: 2026-03

Locations

FR (1)