Actively Recruiting

Age: 1Week - 120Years
All Genders
Healthy Volunteers
ID05364294

Molecular Diagnosis of Systemic Autoinflammatory Diseases

Led by Institut National de la Santé Et de la Recherche Médicale, France · Updated on 2026-03-05

300

Participants Needed

1

Research Sites

48 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Systemic autoinflammatory diseases (SAIDs) are rare and diverse conditions marked by periods of little or no symptoms interrupted by fever and inflammation affecting membranes and tissues. This research aims to discover new genes and specific biological patterns related to SAIDs, especially in patients whose disease causes are not yet known. The goal is to better understand SAIDs, speed up diagnosis, and support personalized treatment approaches. The study observes patients with clinical signs of aseptic inflammatory syndrome, such as fever that resolves on its own, abdominal pain or diarrhea, joint or muscle pain, chest pain or pericarditis, skin changes, sensory issues like uveitis or deafness, and kidney problems like amyloidosis. No investigational drugs or treatments are being given; instead, the project focuses on collecting data and samples to identify disease-causing gene mutations and cellular pathways over a 10-year period. Participants will be evaluated through clinical and biological assessments to identify mutations and biological signatures linked to SAIDs. Researchers will monitor disease pathways and explore options for personalized therapies based on findings. The study includes long-term observation up to 10 years, with no active treatment, allowing participants to continue their usual care during this time.

CONDITIONS

Brief Title

Molecular Diagnosis of Systemic Autoinflammatory Diseases

Who Can Participate

Age: 1Week - 120Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients presenting with clinical and biological aseptic inflammatory syndrome including one or more of the following: spontaneously resolving fever, abdominal pain or diarrhea, joint or muscle pain, chest pain or pericarditis, skin involvement, sensory issues such as uveitis or deafness, or kidney involvement like amyloidosis.
Not Eligible

You will not qualify if you...

  • Adult subjects under legal protection measures such as guardianship, curatorship, or safeguard of justice.

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Up to 10 years

Participants undergo evaluation to identify disease-causing mutations and explore biological signatures related to systemic autoinflammatory diseases.

Visits as needed over the study period

Long-term Monitoring

Duration - Up to 10 years

Participants are monitored long-term to assess disease pathways and support personalized treatment development.

Visits as needed over the study period

Trial Site Locations

Total: 1 location

1

Trousseau Hospital

Paris, France, 75012

Actively Recruiting

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Research Team

I

Irina GIURGEA

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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