RecruitingNCT06354322

Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis

Physiopathological Investigation of Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis

Sponsor

Assistance Publique - Hôpitaux de Paris

Enrollment

200 participants

Start Date

Feb 26, 2025

Study Type

OBSERVATIONAL

Conditions

Autoinflammatory Disease AA Amyloidosis

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

Min Age: 3 YearsMax Age: 80 Years

Inclusion Criteria8

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.
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).