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

December 9, 2021 updated by: University Hospital, Montpellier

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

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).

Study Overview

Status

Terminated

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Actual)

299

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Montpellier, France, 34295
        • University hospital Montpellier

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

3 months to 99 years (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Patients referred to the laboratory for suspected Systemic Autoinflammatory Diseases (SAID)

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure
Time Frame
Date of introduction of relevant treatment
Time Frame: 6 months after report issue
6 months after report issue

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Montpellier

Investigators

  • Principal Investigator: Guillaume SARRABAY, md, University Hospital, Montpellier

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

July 31, 2015

Primary Completion (ACTUAL)

July 31, 2019

Study Completion (ACTUAL)

March 31, 2020

Study Registration Dates

First Submitted

September 2, 2016

First Submitted That Met QC Criteria

November 26, 2016

First Posted (ESTIMATE)

November 30, 2016

Study Record Updates

Last Update Posted (ACTUAL)

December 30, 2021

Last Update Submitted That Met QC Criteria

December 9, 2021

Last Verified

December 1, 2021

More Information

Terms related to this study

Other Study ID Numbers

  • UF 9551

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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