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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

299 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-07-31

Study Completion Date

2020-03-31

Brief Summary

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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

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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.

Conditions

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Systemic Autoinflammatory Diseases (SAID)

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Interventions

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No intervention

Intervention Type OTHER

Eligibility Criteria

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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

Minimum Eligible Age

3 Months

Maximum Eligible Age

99 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Guillaume SARRABAY, md

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Montpellier

Locations

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university Hospital Montpellier

Montpellier, , France

Site Status

Countries

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France

References

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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.

Reference Type DERIVED

PMID: 32909274 (View on PubMed)

Other Identifiers

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UF 9551

Identifier Type: -

Identifier Source: org_study_id