The primary objective is to identify what causes colchicine resistance in FMF. Additionally, we will try to identify potential interventions to overcome resistance
ID
Source
Brief title
Condition
- Immune system disorders congenital
- Immune disorders NEC
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Within cases and controls we will determine intracellular levels of colchicine,
assuming that cases will have lower intracellular colchicine levels as compared
to controls. Additionally, we will perform genomics analysis on peripheral
blood cells as well as transcriptomic analysis by single cell RNA-seq in order
to identify potential differences in genetic profile and gene expression
between cases and controls.
Secondary outcome
Are demographic factors like age, gender and body composition associated with
colchicine response?
Background summary
Familial Mediterranean Fever (FMF) is the most common monogenic
autoinflammatory disease mainly affecting immigrants from the Near-East and
North-Africa. Untreated this disorder may lead to amyloidosis, organ failure
and decreased quality of life. Most patient can adequately be treated with
colchicine, however up to 10% of the FMF patients are intolerant or resistant
this first line of treatment and have to be treated with IL-1 blocking drugs
(Anakinra and Canakinumab). The disadvantages of these biologicals are
primarily the need to inject the medication and the costs. Why patients are
resistant to colchicine is still unknown although inability to reach adequate
intracellular levels of colchicine is assumed to play a role.
Study objective
The primary objective is to identify what causes colchicine resistance in FMF.
Additionally, we will try to identify potential interventions to overcome
resistance
Study design
Case control study
Study burden and risks
Blood samples will be collected from each participant during the inclusion
visit. When possible, blood samples will be taken in conjunction with blood
sampling for clinical monitoring. In total we will collect 4 heparin tubes for
all analysis. Additionally, participants are asked to fill out a questionnaire.
The study can only be performed with subjects suffering from FMF. Apart from
some discomfort during collection of blood, burden for participant is minimal.
This study bears no risk for the participants.
Dr Molenwaterplein 40
Rotterdam 3015GD
NL
Dr Molenwaterplein 40
Rotterdam 3015GD
NL
Listed location countries
Age
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
Design
Recruitment
Medical products/devices used
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL85047.078.23 |