Evaluation of a New Sequencing Strategy in Autoinflammatory Siseases (BIOSAID)

Study Overview
=================
Brief Summary
-----------------
Main objective: To compare the efficacy of a new strategy of Next Generation Sequencing (NGS) versus a classical Sanger strategy, for the diagnosis of patients referred to the laboratory for suspected systemic autoinflammatory diseases (SAID). Secondary objectives: Compare after 6 months the impact of these strategies on the establishment of an effective treatment SAID following genetic result. Compare the distribution of different forms of SAID found with each genetic diagnostic strategies (NGS vs classic method).

Detailed Description
-----------------
Systemic autoinflammatory diseases (SAID) include a broad spectrum of pathologies of innate immunity. In recent years, numerous publications have shown the involvement of new genes in these diseases, highlighting new pathophysiological pathways (inflammasome, NFkB: nuclear factor-kappa B, interferon) and new targeted therapies (biotherapy advantageously replacing non-specific anti-inflammatory drugs). Current laboratory diagnostic strategy is based on the Sanger method, the gold standard to date, allowing the sequential analysis of some genes (usually between 1 and 4). The nonspecific nature of the clinical presentation of these diseases, the increasing number of genes involved and the low diagnostic yield obtained, make it essential to develop a new strategy, more efficient, so that the patient can benefit as soon as possible treatment suited to his pathology as soon as the gene involved is identified. The investigator had developed and validated in our genetic laboratories a new method based on the Next Generation Sequencing (NGS). A panel of 32 known or candidate SAID genes, which can be simultaneously analyzed within a time compatible with the diagnosis. The investigator wishes to highlight the benefits of this new strategy.

Official Title
-----------------
Evaluation of a New Sequencing Strategy in Autoinflammatory Diseases Diagnostic Value and Therapeutic Orientation

Conditions
-----------------
Systemic Autoinflammatory Diseases (SAID)

Intervention / Treatment
-----------------
* Other: No intervention


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Patients with prerequisites established jointly by the reference centers: At least 3 unexplained inflammatory access Elevated C Reactive Protein Age of symtoms less than 30 years and validated by a physician CeréMAI (Centre de référence des maladies autoinflamatoires) Exclusion Criteria: Other inflammatory disease: intercurrent infection cancer autoimmune disease

Ages Eligible for Study
-----------------
Minimum Age: 3 Months
Maximum Age: 99 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: No intervention|nan|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger |  | At time of report issue up to two years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Date of introduction of relevant treatment |  | 6 months after report issue |