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A Diagnostic Test for Familial Mediterranean Fever (DEPIST-FMF)

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ClinicalTrials.gov Identifier: NCT03747315
Recruitment Status : Not yet recruiting
First Posted : November 20, 2018
Last Update Posted : November 20, 2018
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

Brief 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).

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.


Condition or disease Intervention/treatment
Familial Mediterranean Fever Other: In vitro functional test

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Study Type : Observational
Estimated Enrollment : 129 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Assessment of a Functional Test to Detect Familial Mediterranean Fever
Estimated Study Start Date : January 1, 2019
Estimated Primary Completion Date : July 1, 2020
Estimated Study Completion Date : July 1, 2020


Group/Cohort Intervention/treatment
Familial Mediterranean Fever (patients)
Patients with previously confirmed Familial Mediterranean Fever (based on clinical criteria)
Other: In vitro functional test
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.

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.
Other: In vitro functional test
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.

Healthy donors
Patients without symptoms (anonymous blood donors)
Other: In vitro functional test
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.




Primary Outcome Measures :
  1. 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).




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Ages Eligible for Study:   4 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Patients with Familial Mediterranean Fever, patients controls with similar symptoms and healthy subjects who donated their blood to the French Blood Establishment.
Criteria

Inclusion Criteria:

  • 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);

Exclusion Criteria:

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03747315


Contacts
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Contact: Yvan JAMILLOUX, Dr 04 26 73 26 36 ext +33 yvan.jamilloux@chu-lyon.fr

Locations
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France
Service de néphrologie et rhumatologie pédiatrique, Hôpital Femme Mère Enfant Not yet recruiting
Bron, France, 69500
Contact: Alexandre BELOT, Dr    04.27.85.61.26 ext +33    alexandre.belot@chu-lyon.fr   
Unité Inserm U1111 & Service de Médecine Interne, Hôpital de la Croix-Rousse Not yet recruiting
Lyon, France, 69004
Contact: Yvan JAMILLOUX, Dr    04.26.73.26.36 ext +33    yvan.jamilloux@chu-lyon.fr   
Service de Médecine Interne, Pavillon O - Hopital Edouard Herriot Not yet recruiting
Lyon, France, 69437
Contact: Thomas BARBA, Dr       thomas.barba@chu-lyon.fr   
Service de Médecine Interne et pathologies vasculaires, Batiment 1B, Centre Hospitalier Lyon Sud Not yet recruiting
Pierre-Bénite, France, 69495
Contact: Jean-Christophe LEGA, Pr       jean-christophe.lega@chu-lyon.fr   
Sponsors and Collaborators
Hospices Civils de Lyon

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Responsible Party: Hospices Civils de Lyon
ClinicalTrials.gov Identifier: NCT03747315     History of Changes
Other Study ID Numbers: 69HCL17_0710
First Posted: November 20, 2018    Key Record Dates
Last Update Posted: November 20, 2018
Last Verified: November 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Fever
Brucellosis
Familial Mediterranean Fever
Hereditary Autoinflammatory Diseases
Body Temperature Changes
Signs and Symptoms
Gram-Negative Bacterial Infections
Bacterial Infections
Genetic Diseases, Inborn
Skin Diseases, Genetic
Skin Diseases