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

University Hospital Center (CHU)

Status: Terminated

Conditions: Systemic Autoinflammatory Diseases (SAID)

Treatments: Other: No intervention

Study type: Observational

Funder types: Other

Identifiers

NCT02976948

UF 9551

Details and patient eligibility

About

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).

Full 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.

Enrollment: 299 patients

Sex: All

Ages: 3 months to 99 years old

Volunteers: No Healthy Volunteers

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