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Immunome Project Consortium for Autoinflammatory Disorders

NCT03919110 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 612

Last updated 2025-04-16

No results posted yet for this study

Summary

Rare systemic auto inflammatory diseases are a group of diseases that can be inherited and have non specific symptoms (fevers, rashes, joint pain, etc.). These diseases can be divided into two groups:

* Diseases for which genetic mutations have been identified
* The so-called genetically undetermined diseases for which no genetic mutation has been identified and for which the diagnosis is based on the elimination of other causes of disease

At present, the causes and mechanisms of these diseases are poorly understood and their diagnosis is difficult, often leading to misdiagnosis. The usual care integrates anti-inflammatory treatments (aspirin, colchicine, cortisone, biotherapies, etc.) and support for patients and their families by health professionals (doctors, nurses, physiotherapists, etc.). To date, a patient with one of these diseases can receive up to 5 inappropriate or ineffective treatments before the right diagnosis is made and the right therapy is put in place.

The objective of this study is to develop rapid and effective diagnostic methods for these diseases by the identification of biological markers present in blood, urine or stool of patient in order to develop a rapid and efficient diagnostic method.

Conditions

  • Autoinflammatory Diseases, Hereditary

Interventions

DIAGNOSTIC_TEST

Collection of biological samples

Investigators are building a collection of biological samples to perform biological assays and multiple analyses so-called "omics": genomics (on the entire genome), proteomics (on all proteins) etc...This will make it possible to identify the genetic mutations or biological markers present or absent in these diseases, making it possible to confirm a diagnosis or to eliminate differential diagnoses.

Sponsors & Collaborators

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

    lead OTHER_GOV

Principal Investigators

  • Bruno FAUTREL, MD, PhD · Department of RHeumatology, Groupe Hospitalier Pitié-Salpêtrière

  • Christian von FRENCKELL, MD, PhD · CHU de Liège, Department of Rheumatology

  • Vassili SOUMELIS, MD,PhD · INSERM U932

Eligibility

Min Age
1 Year
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-12-11
Primary Completion
2024-05-15
Completion
2024-05-15

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03919110 on ClinicalTrials.gov