Familial Mediterranean Fever Clinical Trial
— miRinFMFOfficial title:
Etude du rôle Des microARNs Dans la Physiopathologie de la fièvre méditerranéenne Familiale
Familial Mediterranean Fever (FMF) genetic diagnosis is well established for homozygous patients. On the other hand, although heterozygous individuals are theoretically healthy carriers, 1/3 of them will develop clinical symptoms of FMF and could benefit from prophylactic treatment. This suggests that the disorder expression mechanisms are not fully elucidated to date. The preliminary results obtained at the Institute for Regenerative Medicine and Biotherapy (IRMB) suggest the involvement of an epigenetic mechanism in FMF pathogenesis, and our laboratory has strong arguments as to the involvement of microRNAs (in particular miR-326) which are negative regulators of gene expression. This study is exploratory and aims to validate the role of miRNAs in the clinical expression of FMF in patients, thus to explore the epigenetic mechanisms that may explain the variability of expression of this disorder.
Status | Not yet recruiting |
Enrollment | 40 |
Est. completion date | October 2, 2025 |
Est. primary completion date | October 2, 2025 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 1 Year and older |
Eligibility | Inclusion Criteria: - Patient aged =1 year - Body weight = 10kg - Homozygous patients group: patients homozygous for MEFV (M694V, M694I, M680I, V726A) - Symptomatic heterozygous patients group: patients heterozygous for the MEFV gene (M694V, M694I, M680I, V726A) meeting the Yalcinkaya criteria for FMF diagnosis (Fever lasting 6 to 72 hours with at least 3 attacks - Abdominal pain of 6 to 72 hours duration with at least 3 attacks - Chest pain of 6 to 72 hours duration with at least 3 attacks - Arthritis of 6 to 72 hours duration with at least 3 attacks- FMF Family History of FMF) - Asymptomatic heterozygous patients group: patients heterozygous for the MEFV gene (M694V, M694I, M680I, V726A) who do not meet the Yalcinkaya criteria for FMF diagnosis - Control subjects group: absence of identified auto-inflammatory disorder Exclusion Criteria: - Absence of collection of informed consent of participant or absence of informed consent of the legal representatives/guardians of pediatric participant - Subjects not registered in Social Security system |
Country | Name | City | State |
---|---|---|---|
France | University Hospital of Nîmes | Nîmes | |
France | Robert Debré University Hospital of Paris | Paris | |
France | University Hospital of Paris Kremlin Bicêtre | Paris | |
France | University Hospital of Toulouse | Toulouse |
Lead Sponsor | Collaborator |
---|---|
University Hospital, Montpellier |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | miR-326 expression level quantification | Analyze the expression levels (quantification) of miRNA miR-326 in blood monocytes within the 4 groups of individuals: homozygous, symptomatic heterozygous, asymptomatic heterozygous for MEFV and control subjects, in order to determine whether or not miR-326 influences the inflammatory response of monocytes. | 1 day (at enrollment) | |
Primary | MEFV expression level quantification | Analyze the expression levels (quantification) of MEFV gene in blood monocytes within the 4 groups of individuals: homozygous, symptomatic heterozygous, asymptomatic heterozygous for MEFV and control subjects | 1 day (at enrollment) | |
Secondary | miR-326 expression level comparison | Compare the expression levels of miR-326 between symptomatic and asymptomatic heterozygous groups. | 1 day (at enrollment) | |
Secondary | MEFV expression level comparison | Compare the expression levels of MEFV between symptomatic and asymptomatic heterozygous groups. | 1 day (at enrollment) | |
Secondary | Blood samples collection | Create a biobank (freezing monocytes extracted from patient samples) in order to subsequently study other miRNAs | 1 day (at enrollment) | |
Secondary | Expression levels of other candidate miRNAs targeting MEFV | Quantification of the the expression levels of other candidate miRNAs targetting MEFV within the 4 groups of participants. 5 miRNAs will be selected using a methylome study currently being carried out. | 1 day (at enrollment) |
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