Clinical trial NCT02976948: Evaluation of a New Sequencing Strategy in Autoinflammatory Siseases (BIOSAID)
Official title: Evaluation of a New Sequencing Strategy in Autoinflammatory Diseases Diagnostic Value and Therapeutic Orientation
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Systemic Autoinflammatory Diseases (SAID)
Lead sponsor: University Hospital, Montpellier
Sponsor class: OTHER
First posted: 2016-11-30
Enrollment: 299
Sex: ALL
Minimum age (years): 3
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients referred to the laboratory for suspected Systemic Autoinflammatory Diseases (SAID)

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.

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

Primary outcomes:
measure: Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger
timeFrame: At time of report issue up to two years
Secondary outcomes:
measure: Date of introduction of relevant treatment
timeFrame: 6 months after report issue
Other outcomes:
Locations:
city: Montpellier
country: France
facility: university Hospital Montpellier
Study officials:
affiliation: University Hospital, Montpellier
name: Guillaume SARRABAY, md
role: PRINCIPAL_INVESTIGATOR
References:
citation: Rama M, Mura T, Kone-Paut I, Boursier G, Aouinti S, Touitou I, Sarrabay G. Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study. Clin Exp Immunol. 2021 Jan;203(1):105-114. doi: 10.1111/cei.13511. Epub 2020 Sep 29.