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

NCT02976948 | Terminated

• 1 other identifier: UF 9551
• Study Type: observational
• Target: 299
• Locations: 1 country
• Sites: 1

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).

Conditions

Systemic Autoinflammatory Diseases (SAID)

Outcome Measures

Primary Outcomes (1)

• Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger

  At time of report issue up to two years

Secondary Outcomes (1)

• Date of introduction of relevant treatment

  6 months after report issue

Interventions

No intervention OTHER

Eligibility Criteria

• Age: 3 Months - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

• 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)

You may not qualify if:

• Other inflammatory disease:
• intercurrent infection
• cancer
• autoimmune disease

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

university Hospital Montpellier

Montpellier, 34295, France

Location

Related Publications (1)

• 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.

  PMID: 32909274 DERIVED

Biospecimen

Retention: SAMPLES WITHOUT DNA

Patients with prerequisites established jointly by the reference centers . At least 3 unexplained inflammatory access elevated CRP (C reactive protein)

Study Officials

• Guillaume SARRABAY, md

  University Hospital, Montpellier

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 2, 2016
• First Posted: November 30, 2016
• Study Start: July 31, 2015
• Primary Completion: July 31, 2019
• Study Completion: March 31, 2020
• Last Updated: December 30, 2021

Record last verified: 2021-12

Locations

FR (1)