Epidemiology of SAIDs. (EPIMAI)

March 9, 2020 updated by: University Hospital, Montpellier

Epidemiology and Clinico-genetic Correlations of Auto-inflammatory Diseases

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.

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment (Actual)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
    • Montepllier
      • Montpellier, Montepllier, France, 34295
        • UH Montpellier

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients referred to the laboratory for suspected systemic autoinflammatory diseases (SAID)

Description

Inclusion Criteria:

- NGS autoinflammatory panel performed

Exclusion Criteria:

- None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of genetically ascertained patients
Time Frame: 1 day
Number of genetically ascertained patients
1 day

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Montpellier

Investigators

  • Principal Investigator: Guillaume SARRABAY, UH Montpellier

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 7, 2018

Primary Completion (Actual)

January 30, 2019

Study Completion (Actual)

January 30, 2020

Study Registration Dates

First Submitted

July 26, 2018

First Submitted That Met QC Criteria

August 21, 2018

First Posted (Actual)

August 23, 2018

Study Record Updates

Last Update Posted (Actual)

March 10, 2020

Last Update Submitted That Met QC Criteria

March 9, 2020

Last Verified

March 1, 2020

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • RECHMPL17_0368

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Autoinflammatory Diseases

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Uganda

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe