Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis

NCT06354322 | Recruiting

• 1 other identifier: APHP230630
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Autoinflammatory disease; AA amylosis; Functional explorations; Unclassified genotypes

Outcome Measures

Primary Outcomes (1)

• Exploration of VUS in AutoInflammatory Diseases

  To explore variants of undetermined significance (VUS)in patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity.

  Up to 4 years

Secondary Outcomes (3)

• Pathophysiology of Autoinflammatory Diseases

  Up to 4 years

• Role of other innate immune cells in AutoInflammatory Diseases

  Up to 4 years

• Improve knowledge of AA amyloidosis

  Up to 4 years

Study Arms (2)

patients to be studied

Control patients

Eligibility Criteria

• Age: 3 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology

You may qualify if:

• 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).

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Service médecine interne-Hôpital Tenon

Paris, 75020, France

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

PBMC, fibroblasts

MeSH Terms

Conditions

AA amyloidosis

Central Study Contacts

Sophie GEORGIN-LAVIALLE, Professor

CONTACT

00 33 1 56 01 72 04; sophie.georgin-lavialle@aphp.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 3, 2024
• First Posted: April 9, 2024
• Study Start: February 26, 2025
• Primary Completion (Estimated): February 1, 2039
• Study Completion (Estimated): February 1, 2039
• Last Updated: September 2, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)