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Study of Colchicine Resistance in Familial Mediterranean Fever

Not Applicable
Completed
Conditions
Colchicine Resistance
Mediterranean Fever
Interventions
Biological: Capillary colchicine dosage in colchicine-resistant Familial Mediterranean Fever patients.
Registration Number
NCT05418686
Lead Sponsor
Assistance Publique - Hôpitaux de Paris
Brief Summary

Five to 10% of familial mediterranean patients are considered colchicine-resistant (i.e. patients with a persistent inflammatory syndrome, despite taking the maximum tolerated dose of colchicine daily). The recommended treatment in this case is a subcutaneous anti-interleukin 1 biotherapy (anakinra or canakinumab). These treatments are expensive (1,000 to 12,000 euros/month).

However, for a patient to be considered colchicine-resistant, compliance with the treatment must be verified. Furthermore specific activation of the pyrin inflammasome by Clostrioides difficile toxin and the overrepresentation of these bacteria in the stools of our patients led us to systematically search for them in our resistant patients. The demonstration of the involvement of C. difficile in the imbalance of the disease has not yet been published.

The colchiresist study aim to better characterize colchicine-resistance by confirming good compliance to treatment with colchicine hair measurement and by looking for clostrioides infection or intestinal dysbiosis.

Detailed Description

Patients meeting the criteria for colchicine resistance will be included in a follow-up visit.

* Adherence to colchicine therapy will be assessed by the Girerd questionnaire completed by the patient at the inclusion visit.

* A blood test is performed including a haemogram, CRP and SAA, creatinine and proteinuria.

* a standard stool analysis on site to look for C. difficile toxin.

For research purposes, samples of:

* Stool.

* A strand of hair with the diameter of a pencil and a minimum length of 2 cm, in the region of the posterior vertex, where the growth and integration are relatively constant to avoid variability.

* In patients with baldness or bleached hair only: pubic and/or axillary hair will be taken, The samples will then be processed without segmentation.

* Additional blood (5ml) and urine (2ml) samples for colchicine dosage. The patient's participation ends after this visit

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
30
Inclusion Criteria

Inclusion Criteria Age ≥ 12 years with no upper age limit -Patients with familial Mediterranean fever (FMF) meeting international criteria for the disease (Livneh criteria) and carrying 2 pathogenic mutations in the MEFV gene.

Patients considered colchicine-resistant according to EULAR criteria reviewed by an expert consensus:

  • Persistence of signs of activity (at least one attack per month for at least 3 months) despite taking the maximum tolerated dosage of colchicine.
  • Persistence of a biological inflammatory syndrome after exclusion of other causes and despite taking a maximum tolerated dosage of colchicine.
  • Signature of an informed consent by the patient (or his parents if under 18 years of age)
  • Patients affiliated to a social security system
Exclusion Criteria
  • Patients participating in another interventional trial

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Colchicine-resistant Familial Mediterranean Fever patientsCapillary colchicine dosage in colchicine-resistant Familial Mediterranean Fever patients.-
Primary Outcome Measures
NameTimeMethod
Amount of colchicine measured in the first 2 cm of hair from the scalp of an FMF patient considered colchicine resistant or from pubic hair in patients with bald or colored hair, which corresponds to the average compliance of the last 2 months of intakeThrough study completion, an average of 18 months

To assess 2-month compliance with colchicine in patients with FMF considered resistant via capillary drug dosage

Secondary Outcome Measures
NameTimeMethod
Correlation between the amount of colchicine measured in the hair and the blood and urine levels of colchicine attesting to the last days' intake.Through study completion, an average of 18 months

To study blood and urine colchicine dosage in FMF patients considered resistant to colchicine

Correlation between capillary colchicine dosage and colchicine compliance assessed with the 6-item GIRERDThrough study completion, an average of 18 months

Compare hair dosing to self-reported compliance

Testing for clostridioides difficile toxin B in colchicin-resistant patientsThrough study completion, an average of 18 months

Testing colchicine-resistant FMF patients for clostridioides difficile toxin to rule out chronic asymptomatic carriage

Composition of the fecal microbiota (search for an overrepresentation of clostridiae) in colchicine-resistant patients patients with colchicine resistanceThrough study completion, an average of 18 months

Studying the composition of the fecal microbiota in colchicine-resistant FMF patients

Dosage of proinflammatory cytokines IL1, IL6, IL18, TNFa and il1Ra.Through study completion, an average of 18 months

Study blood levels of proinflammatory cytokines in colchicine-resistant patients, in particular IL1 and il1RA

Percentage of patients for whom a prescription of anti-IL-1 biotherapy could have been avoided (i.e. poor compliance with Colchicine and/or Clostrioides Difficile infection)Through study completion, an average of 18 months

Determine the percentage of patients labeled colchicine resistant who were actually noncompliant or chronically infected with pyrin-activating bacteria like clostridioides difficile

Trial Locations

Locations (1)

Service de Médecine Interne. Hôpital Tenon, 4 Rue de la Chine

🇫🇷

Paris, France

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