Evaluation of a New Sequencing Strategy in Autoinflammato... | NCT02976948

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

NCT02976948

Sponsor

University Hospital, Montpellier

Status

Terminated

Last Update Posted

Dec 30, 2021Actual

Enrollment

299Actual

Phase

Not provided

Conditions

Systemic Autoinflammatory Diseases (SAID)

Interventions

No intervention

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Dec 2021

Overall Recruitment Status or Expanded Access Status

Terminated

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Inclusion of the last patient

Expanded Access Info

Start Date

Jul 31, 2015Actual

Primary Completion Date

Jul 31, 2019Actual

Completion Date

Mar 31, 2020Actual

First Submitted Date

Sep 2, 2016

First Submission Date that Met QC Criteria

Nov 26, 2016

First Posted Date

Nov 30, 2016Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Dec 9, 2021

Last Update Posted Date

Dec 30, 2021Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

299Actual

Name	Type	Description	Arm Group Labels	Other Names
No intervention	Other

Outcomes Module

Primary Outcomes

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 Outcomes

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

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

3 Months

Maximum Age

99 Years

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Guillaume SARRABAY, md	University Hospital, Montpellier	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
university Hospital Montpellier		Montpellier		34295	France

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
32909274	Derived	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.