nderstanding colchicine resistance in Familial Mediterranean Fever; exploring pathophysiological mechanisms and therapeutic options

• Conditions: Familial Mediterranian Fever; 10021429; 10027665

• Registration Number: NL-OMON56532
• Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 9 April 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 100

Inclusion Criteria

Patients: Diagnosis of FMF (genetically confirmed). Insufficient control of
symptoms despite use of colchicine
Controls: Diagnosis of FMF (genetically confirmed). In remission on colchicine

Exclusion Criteria

pregnancy

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Within cases and controls we will determine intracellular levels of colchicine,<br /><br>assuming that cases will have lower intracellular colchicine levels as compared<br /><br>to controls. Additionally, we will perform genomics analysis on peripheral<br /><br>blood cells as well as transcriptomic analysis by single cell RNA-seq in order<br /><br>to identify potential differences in genetic profile and gene expression<br /><br>between cases and controls. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Are demographic factors like age, gender and body composition associated with<br /><br>colchicine response? </p><br>