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

Systemic Autoinflammatory Diseases (SAID) Clinical Trial

— BIOSAID  

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT02976948
• Other study ID #: UF 9551
• Status: Terminated
• Start date: July 31, 2015
• Est. completion date: March 31, 2020

Study information

• Verified date: December 2021
• Source: University Hospital, Montpellier
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 299
• Est. completion date: March 31, 2020
• Est. primary completion date: July 31, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Months to 99 Years

Eligibility

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

Related Conditions & MeSH terms

• Systemic Autoinflammatory Diseases (SAID)

Intervention

Other:
• No intervention

Locations

Country	Name	City	State
France	university Hospital Montpellier	Montpellier

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Montpellier

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger		At time of report issue up to two years
Secondary	Date of introduction of relevant treatment		6 months after report issue