Familial Mediterranean FeverDEPIST-FMFNCT03747315
A Diagnostic Test for Familial Mediterranean Fever
An observational study of Familial Mediterranean Fever, run by Hospices Civils de Lyon at 4 sites in France.
Trial summary
Familial Mediterranean Fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is due to mutations of the MEFV gene, encoding variants of the Pyrin inflammasome. Inflammasomes are protein complexes of innate immunity producing pro-inflammatory cytokines (interleukin-1β). Read more about this study
- Who is it for?
- Ages 4 years and olderHealthy volunteers can take part
- Conditions the study is for
- Familial Mediterranean Fever
- What is being tested?
- In vitro functional test
- How many people
- 107 participants
- Where
- 4 sitesFrance
- Study dates
- 15 Dec 2018to 15 Dec 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 4 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with Familial Mediterranean Fever, patients controls with similar symptoms and healthy subjects who donated their blood to the French Blood Establishment.
Who may be able to join
- Clinical picture compatible with an Familial Mediterranean Fever and an earlier genetic analysis finding a mutation of the MEFV gene;
- Newly diagnosed or undergoing follow-up (without criteria of delay or evolutionary stage);
- In the course of specific or non-specific treatment of the disease or without treatment;
- For whom a blood test is planned as part of the routine care;
- Of whom the informed non-opposition has been collected (parental authorization in the case of a minor patient);
Who cannot join
- patient under legal protection or under safeguard of justice or any other measures of protection (guardianship, curatorship);
- Person unable to express his consent;
- Person in emergency situation, vital or not;
- Infection known to HIV and / or HBV and / or HCV
Trial locations and contacts
4 sites in 1 country.
France4 sites
Service de néphrologie et rhumatologie pédiatrique, Hôpital Femme Mère Enfant
Bron, 69500
Unité Inserm U1111 & Service de Médecine Interne, Hôpital de la Croix-Rousse
Lyon, 69004
Service de Médecine Interne, Pavillon O - Hopital Edouard Herriot
Lyon, 69437
Service de Médecine Interne et pathologies vasculaires, Batiment 1B, Centre Hospitalier Lyon Sud
Pierre-Bénite, 69495
About this study
Official title: Assessment of a Functional Test to Detect Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is due to mutations of the MEFV gene, encoding variants of the Pyrin inflammasome. Inflammasomes are protein complexes of innate immunity producing pro-inflammatory cytokines (interleukin-1β).
In vitro, preliminary results demonstrated that activation of the Pyrin inflammasome (measured by interleukin-1β concentration) by kinase inhibitors is significantly increased in FMF patients compared to subjects with a similar clinical picture, and healthy controls. In addition, a measure of cell death yielded significant results in differentiating patients from controls.
The investigators hypothesize that this fast and simple functional test can serve as a diagnostic tool for FMF.
- Conditions
- Familial Mediterranean Fever
- Being tested
- In vitro functional test
- Medical subject headings
- Familial Mediterranean Fever
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
In vitro functional testOther
Measurement of interleukin-1beta secretion by monocytes and measurement of cell death upon Pyrin inflammasome activation by kinase inhibitor on an additional blood sample (4 ml for children under 12 and 10 ml for children 12 years and older and adults) during a sample for patient care.
In vitro functional testOther
Measurement of interleukin-1beta secretion by monocytes and measurement of cell death upon Pyrin inflammasome activation by kinase inhibitor on samples from healthy subjects who donated their blood to the French Blood Establishment.
| Study group | Role | What they receive |
|---|---|---|
| Familial Mediterranean Fever (patients) | Patients with previously confirmed Familial Mediterranean Fever (based on clinical criteria) Receives: Other: In vitro functional test | |
| Control group (patients) | Patients with symptoms similar to that of Familial Mediterranean Fever (e.g. Behcet disease, Crohn, sepsis..) but without confirmed Familial Mediterranean Fever. Receives: Other: In vitro functional test | |
| Healthy donors | Patients without symptoms (anonymous blood donors) Receives: Other: In vitro functional test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Differences in interleukin-1bβ levels
Quantification of the capacity of interleukin-1β concentration measured in primary monocyte supernatants in response to kinase inhibitors, to discriminate Familial Mediterranean Fever subjects from control subjects (healthy subjects and subjects with symptoms similar to those of Familial Mediterranean Fever).
Analysis have to be performed Less than 48 hours after blood sampling (only one sampling).
Measured: Less than 48 hours
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Nov 2018
- Study start15 Dec 2018
- Primary completion15 Dec 2020
- Study completion15 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Mediterranean FeverStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 107 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03747315
- Sponsor's protocol ID
- 69HCL17_0710
- Acronym
- DEPIST-FMF
- Status last verified
- Jun 2021
- First submitted
- 14 Nov 2018
- Last updated
- 8 Jun 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Jun 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of a Functional Test to Detect Familial Mediterranean Fever
- ClinicalTrials.gov ID
- NCT03747315
- Acronym / sponsor ID
- DEPIST-FMF / 69HCL17_0710
- Conditions
- Familial Mediterranean Fever
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 107 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 15 Dec 2018 (actual)
- Primary completion
- 15 Dec 2020 (actual)
- Study completion
- 15 Dec 2020 (actual)
- First posted
- 20 Nov 2018 (actual)
- 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.
Familial Mediterranean Fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is due to mutations of the MEFV gene, encoding variants of the Pyrin inflammasome. Inflammasomes are protein complexes of innate immunity producing pro-inflammatory cytokines (interleukin-1β).
In vitro, preliminary results demonstrated that activation of the Pyrin inflammasome (measured by interleukin-1β concentration) by kinase inhibitors is significantly increased in FMF patients compared to subjects with a similar clinical picture, and healthy controls. In addition, a measure of cell death yielded significant results in differentiating patients from controls.
The investigators hypothesize that this fast and simple functional test can serve as a diagnostic tool for FMF.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Familial Mediterranean Fever (patients) | – | Other: In vitro functional testPatients with previously confirmed Familial Mediterranean Fever (based on clinical criteria) |
| Control group (patients) | – | Other: In vitro functional testPatients with symptoms similar to that of Familial Mediterranean Fever (e.g. Behcet disease, Crohn, sepsis..) but without confirmed Familial Mediterranean Fever. |
| Healthy donors | – | Other: In vitro functional testPatients without symptoms (anonymous blood donors) |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with Familial Mediterranean Fever, patients controls with similar symptoms and healthy subjects who donated their blood to the French Blood Establishment.
Key inclusion criteria (5 listed)
- Clinical picture compatible with an Familial Mediterranean Fever and an earlier genetic analysis finding a mutation of the MEFV gene;
- Newly diagnosed or undergoing follow-up (without criteria of delay or evolutionary stage);
- In the course of specific or non-specific treatment of the disease or without treatment;
- For whom a blood test is planned as part of the routine care;
- Of whom the informed non-opposition has been collected (parental authorization in the case of a minor patient);
Key exclusion criteria (4 listed)
- patient under legal protection or under safeguard of justice or any other measures of protection (guardianship, curatorship);
- Person unable to express his consent;
- Person in emergency situation, vital or not;
- Infection known to HIV and / or HBV and / or HCV
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 |
|---|---|---|
| In vitro functional testMeasurement of interleukin-1beta secretion by monocytes and measurement of cell death upon Pyrin inflammasome activation by kinase inhibitor on an additional blood sample (4 ml for children under 12 and 10 ml for children 12 years and older and adults) during a sample for patient care. | Other | Control group (patients), Familial Mediterranean Fever (patients) |
| In vitro functional testMeasurement of interleukin-1beta secretion by monocytes and measurement of cell death upon Pyrin inflammasome activation by kinase inhibitor on samples from healthy subjects who donated their blood to the French Blood Establishment. | Other | Healthy donors |
Primary outcome
Differences in interleukin-1bβ levels
Time frame: Less than 48 hours
Quantification of the capacity of interleukin-1β concentration measured in primary monocyte supernatants in response to kinase inhibitors, to discriminate Familial Mediterranean Fever subjects from control subjects (healthy subjects and subjects with symptoms similar to those of Familial Mediterranean Fever). Analysis have to be performed Less than 48 hours after blood sampling (only one sampling).
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jun 2021.
- Individual participant dataSharing planned: No
Related trials for Familial Mediterranean Fever
RecruitingObservational study
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
Familial Mediterranean Fever (FMF), Autoinflammation
RecruitingPhase 3
A Study of Apremilast in Children With Oral Ulcers Associated With Behçet's Disease or Juvenile Psoriatic Arthritis
Behçet's Disease, Juvenile Psoriatic Arthritis
Not yet recruitingPhase 3
Goflikicept for Resolution and Prevention of Attacks in Pediatric and Adolescent Patients With Colchicine-Resistant or Colchicine-Intolerant Familial Mediterranean Fever
Familial Mediterranean Fever, FMF
Not yet recruitingObservational study
Genotype and Phenotype in Pediatric Familial Mediterranean Fever
Familial Mediterranean Fever
Not yet recruitingObservational study
Serum EBI-3 Protein Levels in Behçet's Disease
Behçet Disease
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.
The record lists no contact. Use the official record to reach the sponsor.
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Mediterranean Fever, run by Hospices Civils de Lyon at 4 sites 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 5 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: finished, as of the sponsor's last update on 8 Jun 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Differences in interleukin-1bβ levels (time frame: Less than 48 hours). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 8 Jun 2021.