Familial Mediterranean FeverDEPIST-FMF 2NCT04478409
Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
An observational study of Familial Mediterranean Fever and MEFV Gene Mutation, run by Hospices Civils de Lyon at 8 sites in France.
Trial summary
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. 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, MEFV Gene Mutation
- What is being tested?
- one additional blood sample during a planned blood test
- How many people
- 160 participants
- Where
- 8 sitesFrance
- Study dates
- 21 Jul 2021to Jul 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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: This study will involve 80 patients with Familial Mediterranean fever, presenting a previous genetic analysis finding at least one mutation of the MEFV gene, considered pathogenic or possibly pathogenic (60 heterozygotes or complex mutations and 20 homozygotes). The controls will be 80 healthy subjects (French national medical and scientific center (INSERM) and French blood bank (EFS) convention).
Who may be able to join
- Children 4 years of age or older or adults
- Having a clinical picture compatible with an FMF and a previous genetic analysis finding at least one mutation of the MEFV gene pathogenic or possibly pathogenic for the FMF group;
- Newly diagnosed or in the process of follow-up (with no time limit or evolutionary criteria);
- During specific or non-specific treatment of the disease or without treatment;
- For whom a blood test is planned as part of routine care;
- Whose informed non-opposition has been collected (or parental non-opposition in the case of a minor patient);
Who cannot join
- Person under legal protection or under the protection of justice or any other protective measures;
- Person out of state to express their consent;
- Person in emergency situation, vital or not;
- Known infections with HIV and / or HBV and / or HCV;
Trial locations and contacts
8 sites in 1 country. Contact the study team or a site near you to ask about taking part.
8 sites in 1 country
France8 sites, 8 recruiting
- Recruiting
Hôpital Femme-Mère-Enfant
Bron, 69677
Alexandre Belot, Pr, 4 27 85 61 28 ext. +33, alexandre.belot@chu-lyon.fr
- Not yet recruiting
CH de Versailles - Hôpital André Mignot
Le Chesnay, 78157
Véronique Hentgen, MD, 1 39 63 90 98 ext. +33, vhentgen@ch-versailles.fr
- Not yet recruiting
Hôpital Edouard Herriot
Lyon, 69008
Arnaud Hot, Pr, 4 72 11 75 65 ext. +33, arnaud.hot@chu-lyon.fr
- Recruiting
Hôpital de la Croix-Rousse
Lyon, 69317
Yvan Jamilloux, MC/PH, 26 73 26 36 ext. +33, yvan.jamilloux@chu-lyon.fr
- Not yet recruiting
CHU de Montpellier
Montpellier, 34295
Aurelia Carbasse, MD, 4 67 33 67 33 ext. +33, aurelia.carbasse@chu-montpellier.fr
- Not yet recruiting
Service de Pédiatrie - CHU de Nîmes - Hôpital Carémeau
Nîmes, 30029
Tu Anh TRAN, MD, tu.anh.TRAN@chu-nimes.fr
Tu Anh TRAN, MD
- Recruiting
Hôpital Tenon
Paris, 75020
Gilles Grateau, Pr, 1 56 01 66 15 ext. +33, gilles.grateau@aphp.fr
- Not yet recruiting
Hôpital Lyon Sud
Pierre-Bénite, 69495
Isabelle Durieu, Pr, 4 78 86 13 54 ext. +33, Isabelle.durieu@chu-lyon.fr
About this study
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β).
In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls.
Read more
The performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for MEFV mutations.
The investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for FMF and can quantitatively discriminate against patients with different mutations (genotypes).
- Conditions
- Familial Mediterranean Fever, MEFV Gene Mutation
- Being tested
- one additional blood sample during a planned blood test
- Keywords
- Familial Mediterranean fever, Interleukin-1β, MEFV gene mutation, innate immunity
- 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.
one additional blood sample during a planned blood testBiological
The study does not change the usual course of care. Only an additional blood sample (4 ml for children under 12 and 10 ml for children 12 and over and adults) during a planned blood test is specific to research (no risk added). The benefit / risk balance therefore remains unchanged with regard to the usual care of patients.
| Study group | Role | What they receive |
|---|---|---|
| Children or adult with Familial Mediterranean fever | Considering 5 clearly pathogenic (homozygous) genotypes, 15 possibly pathogenic genotypes (5 pathogenic mutations in the heterozygous state, 10 possibly pathogenic mutations in the homozygous or heterozygous state), a number of 80 patients will be necessary to cover the correlation analysis genotype / phenotype.
The study does not change the usual course of care. Only an additional blood sample (4 ml for children under 12 and 10 ml for children 12 and over and adults) during a planned blood test is specific to research (no risk added). The benefit / risk balance therefore remains unchanged with regard to the usual care of patients. Receives: Biological: one additional blood sample during a planned blood test | |
| Healthy blood donor | Healthy blood donor |
What is being measured
The primary outcome is the main question the study is designed to answer.
Quantification of interleukin-1β
quantification of the capacity of the concentration of interleukin-1β measured in the supernatants of primary monocytes in response to kinase inhibitors, to discriminate between FMF subjects among themselves according to genotypes, and among control subjects (healthy subjects).
All samples will be analysed in the INSERM Unit 1111 - CIRI Centre International de Recherche en Infectiologie - Lyon - Team Inflammasome, bacterial infections and autoinflammation.
Measured: At inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jul 2020
- Study start21 Jul 2021
- Primary completionJul 2029 (estimated)
- Study completionJul 2029 (estimated)
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
- 160 participants (estimated)
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
- NCT04478409
- Sponsor's protocol ID
- 69HCL20_0236
- Acronym
- DEPIST-FMF 2
- Status last verified
- Jul 2024
- First submitted
- 16 Jul 2020
- Last updated
- 19 Jul 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Jul 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
- ClinicalTrials.gov ID
- NCT04478409
- Acronym / sponsor ID
- DEPIST-FMF 2 / 69HCL20_0236
- Conditions
- Familial Mediterranean Fever, MEFV Gene Mutation
- Keywords
- Familial Mediterranean fever, Interleukin-1β, MEFV gene mutation, innate immunity
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 160 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 21 Jul 2021 (actual)
- Primary completion
- Jul 2029 (estimated)
- Study completion
- Jul 2029 (estimated)
- First posted
- 20 Jul 2020 (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 caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β).
In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls.
The performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for MEFV mutations.
The investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for FMF and can quantitatively discriminate against patients with different mutations (genotypes).
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Children or adult with Familial Mediterranean fever | – | Biological: one additional blood sample during a planned blood testConsidering 5 clearly pathogenic (homozygous) genotypes, 15 possibly pathogenic genotypes (5 pathogenic mutations in the heterozygous state, 10 possibly pathogenic mutations in the homozygous or heterozygous state), a number of 80 patients will be necessary to cover the correlation analysis genotype / phenotype. The study does not change the usual course of care. Only an additional blood sample (4 ml for children under 12 and 10 ml for children 12 and over and adults) during a planned blood test is specific to research (no risk added). The benefit / risk balance therefore remains unchanged with regard to the usual care of patients. |
| Healthy blood donor | – | –Healthy blood donor |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This study will involve 80 patients with Familial Mediterranean fever, presenting a previous genetic analysis finding at least one mutation of the MEFV gene, considered pathogenic or possibly pathogenic (60 heterozygotes or complex mutations and 20 homozygotes). The controls will be 80 healthy subjects (French national medical and scientific center (INSERM) and French blood bank (EFS) convention).
Key inclusion criteria (6 listed)
- Children 4 years of age or older or adults
- Having a clinical picture compatible with an FMF and a previous genetic analysis finding at least one mutation of the MEFV gene pathogenic or possibly pathogenic for the FMF group;
- Newly diagnosed or in the process of follow-up (with no time limit or evolutionary criteria);
- During specific or non-specific treatment of the disease or without treatment;
- For whom a blood test is planned as part of routine care;
Key exclusion criteria (4 listed)
- Person under legal protection or under the protection of justice or any other protective measures;
- Person out of state to express their consent;
- Person in emergency situation, vital or not;
- Known infections with 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 |
|---|---|---|
| one additional blood sample during a planned blood testThe study does not change the usual course of care. Only an additional blood sample (4 ml for children under 12 and 10 ml for children 12 and over and adults) during a planned blood test is specific to research (no risk added). The benefit / risk balance therefore remains unchanged with regard to the usual care of patients. | Biological | Children or adult with Familial Mediterranean fever |
Primary outcome
Quantification of interleukin-1β
Time frame: At inclusion
quantification of the capacity of the concentration of interleukin-1β measured in the supernatants of primary monocytes in response to kinase inhibitors, to discriminate between FMF subjects among themselves according to genotypes, and among control subjects (healthy subjects). All samples will be analysed in the INSERM Unit 1111 - CIRI Centre International de Recherche en Infectiologie - Lyon - Team Inflammasome, bacterial infections and autoinflammation.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jul 2024.
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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.
8 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 and MEFV Gene Mutation, run by Hospices Civils de Lyon at 8 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 6 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: looking for participants now, as of the sponsor's last update on 19 Jul 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Yvan Jamilloux, MD (26 73 26 36 ext. +33, yvan.jamilloux@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quantification of interleukin-1β (time frame: At inclusion). 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 19 Jul 2024.