Systemic Autoinflammatory Diseases (SAID)BIOSAIDNCT02976948
Evaluation of a New Sequencing Strategy in Autoinflammatory Siseases (BIOSAID)
An observational study of Systemic Autoinflammatory Diseases (SAID), run by University Hospital, Montpellier at 1 site in France.
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). Read more about this study
- Who is it for?
- Ages 3 months to 99 years
- Conditions the study is for
- Systemic Autoinflammatory Diseases (SAID)
- How many people
- 299 participants
- Where
- 1 siteFrance
- Study dates
- 31 Jul 2015to 31 Mar 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 months to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients referred to the laboratory for suspected Systemic Autoinflammatory Diseases (SAID)
Who may be able to join
- 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)
Who cannot join
- Other inflammatory disease:
- intercurrent infection
- cancer
- autoimmune disease
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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).
Read the 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.
- Being tested
- No intervention
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger
Measured: At time of report issue up to two years
Secondary outcomes (1)
Date of introduction of relevant treatment
Measured: 6 months after report issue
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Nov 2016 (estimated)
- Study start31 Jul 2015
- Primary completion31 Jul 2019
- Study completion31 Mar 2020
Why it stopped: Inclusion of the last patient
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Systemic Autoinflammatory Diseases (SAID)Studies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 299 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Guillaume SARRABAY, md, Principal investigator, University Hospital, Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02976948
- Sponsor's protocol ID
- UF 9551
- Acronym
- BIOSAID
- Status last verified
- Dec 2021
- First submitted
- 2 Sep 2016
- Last updated
- 30 Dec 2021
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 32909274
Study at a glance
From the registry record, last updated by the sponsor on 30 Dec 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of a New Sequencing Strategy in Autoinflammatory Diseases Diagnostic Value and Therapeutic Orientation
- ClinicalTrials.gov ID
- NCT02976948
- Acronym / sponsor ID
- BIOSAID / UF 9551
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Inclusion of the last patient
- Enrolment
- 299 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 31 Jul 2015 (actual)
- Primary completion
- 31 Jul 2019 (actual)
- Study completion
- 31 Mar 2020 (actual)
- First posted
- 30 Nov 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 3 months to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients referred to the laboratory for suspected Systemic Autoinflammatory Diseases (SAID)
Key inclusion criteria (4 listed)
- 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)
Key exclusion criteria (4 listed)
- Other inflammatory disease:
- intercurrent infection
- cancer
- autoimmune disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No intervention | Other | – |
Primary outcome
Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger
Time frame: At time of report issue up to two years
1 secondary outcome
Date of introduction of relevant treatment
Time frame: 6 months after report issue
Results and safety
The study was stopped early (reason given: Inclusion of the last patient). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Dec 2021.
- Derived from this study: PubMed 32909274Rama 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.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Guillaume SARRABAY, md principal investigator
University Hospital, Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Systemic Autoinflammatory Diseases (SAID), run by University Hospital, Montpellier at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 30 Dec 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Inclusion of the last patient). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger (time frame: At time of report issue up to two years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02976948, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Dec 2021.