Epidemiology of SAIDs.

Completed

• Conditions: Autoinflammatory Diseases

• Registration Number: NCT03643809
• Lead Sponsor: University Hospital, Montpellier

Brief Summary

Systemic autoinflammatory diseases (SAIDs) are inflammatory conditions caused by a defect of the innate immune system. Most are hereditary, but little is known on recent entities. The investigators aim to (1) establish correlations between the main mutations and symptoms presented by patients (genotype-phenotype correlation), and (2) describe the most recently described clinical, genetic, and demographic characteristics of SAIDs.

Detailed Description

Background SAIDs are a heterogeneous group of diseases linked to a deregulation of the innate immune system. They are characterized by systemic or organ inflammatory attacks. In the absence of accurate diagnosis and adequate treatment, evolution can be lethal. Most SAIDs are hereditary, and the diagnosis is based on genetic analysis because the clinical features overlap. The investigators have been among the first in France to routinely develop Next Generation Sequencing (NGS), which allows a simultaneous and exhaustive analysis of a constantly evolving panel of now more than 60 genes involved in SAIDs. While there are epidemiological studies on the first described MAIs, nothing has been done regarding the newest clinical entities.

Objectives The investigators want to study and value the data the investigators have collected on the most recent SAIDs (500 patients) Main objective: Establish correlations between the main mutations and symptoms presented by patients (genotype-phenotype correlation).

Secondary objectives: Descriptive epidemiology study: Describe the most recently described clinical, genetic, and demographic characteristics of SAIDs.

Methodology The investigators have over the last 20 years set up a database that continues to evolve. These data are collected prospectively from patients (N\> 7000) with SAID refered to our laboratory for genetic analysis. This database contains invaluable demographic, clinical and genetic data, carefully collected for each patient, on a standard file of analysis request made with clinicians from the reference center for auto-inflammatory diseases and amyloidosis (CeRéMAIA). The collection of consent is systematic (declared collection).

Study Timeline

• Study Start: 2018-07-07
• Study First Submitted: 2018-07-26
• Study First Submitted QC: 2018-08-21
• Study First Posted: 2018-08-23
• Primary Completion: 2019-01-30
• Study Completion: 2020-01-30
• Status Verified: 2020-03
• Last Update Submitted: 2020-03-09
• Last Update Posted: 2020-03-10

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 500

Inclusion Criteria

• NGS autoinflammatory panel performed

Exclusion Criteria

• None

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of genetically ascertained patients	1 day	Number of genetically ascertained patients

Trial Locations

Locations (1)

Uh Montpellier; 🇫🇷 Montpellier, Montepllier, France