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

• Sponsor: University Hospital, Montpellier (Other)
• Overall Status: Terminated
• CT.gov ID: NCT02976948
• Collaborator: (none)
• Enrollment: 299
• Location: 1
• Actual Duration (Months): 56
• Patients Per Site Per Month: 5.3

Study Details

Study Description

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).

Condition or Disease	Intervention/Treatment	Phase
Systemic Autoinflammatory Diseases (SAID)	Other: No intervention

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 Design

• Study Type: Observational
• Actual Enrollment: 299 participants
• Observational Model: Other
• Time Perspective: Prospective
• Official Title: Evaluation of a New Sequencing Strategy in Autoinflammatory Diseases Diagnostic Value and Therapeutic Orientation
• Actual Study Start Date: Jul 31, 2015
• Actual Primary Completion Date: Jul 31, 2019
• Actual Study Completion Date: Mar 31, 2020

Outcome Measures

Primary Outcome Measures

1. Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger [At time of report issue up to two years]

Secondary Outcome Measures

1. Date of introduction of relevant treatment [6 months after report issue]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 3 Months to 99 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	university Hospital Montpellier	Montpellier		France	34295

Sponsors and Collaborators

• University Hospital, Montpellier

Investigators

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

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: University Hospital, Montpellier
• ClinicalTrials.gov Identifier: NCT02976948
• Other Study ID Numbers: UF 9551
• First Posted: Nov 30, 2016
• Last Update Posted: Dec 30, 2021
• Last Verified: Dec 1, 2021

Study Results

No Results Posted as of Dec 30, 2021