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OpenTrials
Completed

NCT Number: NCT03643809

Epidemiology of SAIDs.

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.

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Key information

Sex eligibility

All sexes

Study type

Observational

Primary location

Uh Montpellier

Montpellier, Montepllier, 34295, France

About this study

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).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • NGS autoinflammatory panel performed

Exclusion criteria

  • None

Treatment and study plan

Primary outcomes

  1. Number of genetically ascertained patients

    Time frame: 1 day

    Number of genetically ascertained patients

Sponsors and collaborators

Lead sponsor

University Hospital, Montpellier

Other

Registry information

Official study title

Epidemiology and Clinico-genetic Correlations of Auto-inflammatory Diseases

Acronym: EPIMAI

Important dates

Study start
2018
Primary completion
2019
Study completion
2020
First posted
Aug 23, 2018
Registry last updated
Mar 10, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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