Status:
UNKNOWN
Assessment of microRNAs Role in Familial Mediterranean Fever FMF Pathophysiology
Lead Sponsor:
University Hospital, Montpellier
Conditions:
Familial Mediterranean Fever
Eligibility:
All Genders
1+ years
Phase:
NA
Brief Summary
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 w...
Detailed Description
Familial Mediterranean fever (FMF) is a rare autoinflammatory disorder due to mutations in the MEFV (MEditerranean FeVer) gene, that causes recurrent episodes of fever and acute serositis (peritoneum,...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
October 2 2023
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
October 2 2025
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT06033339
Start Date
October 2 2023
End Date
October 2 2025
Last Update
September 14 2023
Active Locations (4)
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1
University Hospital of Nîmes
Nîmes, France
2
Robert Debré University Hospital of Paris
Paris, France
3
University Hospital of Paris Kremlin Bicêtre
Paris, France
4
University Hospital of Toulouse
Toulouse, France