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Epidemiology of SAIDs. (EPIMAI)

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ClinicalTrials.gov Identifier: NCT03643809
Recruitment Status : Completed
First Posted : August 23, 2018
Last Update Posted : March 10, 2020
Sponsor:
Information provided by (Responsible Party):
University Hospital, Montpellier

Study Description
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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.

Condition or disease
Autoinflammatory Diseases

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 Design
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Study Type : Observational
Actual Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Epidemiology and Clinico-genetic Correlations of Auto-inflammatory Diseases
Actual Study Start Date : July 7, 2018
Actual Primary Completion Date : January 30, 2019
Actual Study Completion Date : January 30, 2020
Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Number of genetically ascertained patients [ Time Frame: 1 day ]
    Number of genetically ascertained patients


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients referred to the laboratory for suspected systemic autoinflammatory diseases (SAID)
Criteria

Inclusion Criteria:

- NGS autoinflammatory panel performed

Exclusion Criteria:

- None

Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03643809


Locations
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France
Uh Montpellier
Montpellier, Montepllier, France, 34295
Sponsors and Collaborators
University Hospital, Montpellier
Investigators
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Principal Investigator: Guillaume SARRABAY UH MONTPELLIER
More Information
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Responsible Party: University Hospital, Montpellier
ClinicalTrials.gov Identifier: NCT03643809    
Other Study ID Numbers: RECHMPL17_0368
First Posted: August 23, 2018    Key Record Dates
Last Update Posted: March 10, 2020
Last Verified: March 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Montpellier:
Systemic autoinflammatory diseases (SAIDs)