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Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis

NCT06354322 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2025-09-02

No results posted yet for this study

Summary

Patients with autoinflammatory diseases (AID) have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks. A complication of autoinflammatory diseases is AA amyloidosis, which can lead to renal failure and dialysis. Advances in genetic analysis have led to the identification of new autoinflammatory diseases and thus new pathophysiological pathways.

However, genetic analyses are sometimes confronted with results that are difficult to interpret. These are the Variants of Unknown Significance, for which genetic analysis alone does not allow to determine if the genetic mutation is responsible for the symptoms.

genetic analysis sometimes has limitations in the diagnosis of AID which can only be overcome by pathophysiological studies of the variants found.

Conditions

  • AA Amyloidosis
  • Autoinflammatory Disease

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Eligibility

Min Age
3 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-02-26
Primary Completion
2039-02-28
Completion
2039-02-28

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 NCT06354322 on ClinicalTrials.gov