Actively Recruiting
Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2025-09-02
200
Participants Needed
1
Research Sites
726 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients over 18 years of age capable of giving free and informed consent
- Minor patients under 18 years with both parents or legal guardians giving consent
- Patients with unclassified autoinflammatory disease or AA amyloidosis of unknown cause
- Patients followed in one of the study departments
- Patients weighing more than 15 kg
- Control patients over 18 years capable of giving free and informed consent
- Control patients with classified autoinflammatory disease or who have undergone cosmetic surgery or are blood donors
You will not qualify if you...
- Patients unable to give free and informed consent
- Subjects under guardianship, curatorship, or legal protection
- 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
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Service médecine interne-Hôpital Tenon
Paris, France, 75020
Actively Recruiting
Research Team
S
Sophie GEORGIN-LAVIALLE, Professor
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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