Assessment of microRNAs Role in Familial Mediterranean Fever FMF Pathophysiology

Launched by UNIVERSITY HOSPITAL, MONTPELLIER · Sep 5, 2023

Keywords

ClinConnect Summary

This clinical trial is looking into the role of small molecules called microRNAs in understanding Familial Mediterranean Fever (FMF), a genetic condition that affects some people in different ways. While some individuals with the FMF gene are perfectly healthy, about one-third of those who carry the gene may still experience symptoms like fever and abdominal pain. Researchers want to explore how these microRNAs could help explain why some people develop symptoms while others do not, which could lead to better treatment options.

To participate in this study, individuals must be at least 1 year old and weigh at least 10 kg. They are looking for two groups of patients: those who have two copies of the FMF gene (homozygous patients) and those who have one copy and show symptoms of FMF (symptomatic heterozygous patients). There is also a group for those who have one copy but do not show any symptoms (asymptomatic heterozygous patients) and a control group of healthy individuals without any auto-inflammatory disorders. Participants will contribute to important research that may improve understanding and treatment of FMF.

Gender

ALL

Eligibility criteria

• 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