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Clinical Trials in France / NCT06354322
Recruiting Observational

Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis

NCT06354322 · tracked via the Priya Life Science France tracker
Sponsor
Assistance Publique - Hôpitaux de Paris
Phase
Observational
Started
2025-02-26
Last updated
2025-09-02

Condition(s) studied

AA AmyloidosisAutoinflammatory Disease

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.

Eligibility

Sex
ALL
Min age
3 Years
Max age
80 Years
Healthy volunteers
No
Inclusion Criteria: Inclusion criteria for patients to be studied: * Patients over 18 years of age with the capacity to give express free and informed consent and; * Minor patients under 18 years of age with both parents or legal guardians giving consent; * Patients with unclassified IAD or AA amyloidosis of undetermined etiology; * Patients followed in one of the study departments; * Patients weighing more than 15 kg. Inclusion criteria for control patients: * Patients over 18 years of age with the capacity to give free and informed express consent; * Patients with IAD classified with well-defined international criteria or ; * Patients who have undergone cosmetic surgery or blood donors). Exclusion Criteria: * Patients unable to give express free and informed consent; * Subjects under guardianship, curatorship or safeguard of justice; * Subjects who do not speak French; * Subjects unable to answer questions or express themselves; * Patients weighing less than 15 kg; * Patients without social security coverage

Primary outcome measure(s)

  • Exploration of VUS in AutoInflammatory Diseases — Up to 4 years
    To explore variants of undetermined significance (VUS)in patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.

Trial sites (1)

FacilityCityRegionStatus
Service médecine interne-Hôpital Tenon Paris France Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06354322 on ClinicalTrials.gov ↗ ← All trials in France