Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation
Information source: Rambam Health Care Campus
ClinicalTrials.gov processed this data on August 20, 2015 Link to the current ClinicalTrials.gov record.
Condition(s) targeted: Familial Mediterranean Fever
Intervention: Colchicine Cessation (Other)
Phase: Phase 2
Status: Enrolling by invitation
Sponsored by: Rambam Health Care Campus Official(s) and/or principal investigator(s): Yonatan Butbul, MD, Study Chair, Affiliation: Rambam Health Care Campus Riva Brik, MD, Principal Investigator, Affiliation: Rambam Health Care Campus
Summary
The purpose of this study is to evaluate the effect of discontinuation of colchicine
treatment in a specific group of asymptomatic FMF patients with a single mutation in MEFV
gene, both from a clinical and laboratory aspects.
Clinical Details
Official title: Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation
Study design: Allocation: Non-Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Parallel Assignment, Masking: Open Label, Primary Purpose: Treatment
Primary outcome: Acute clinical episode of FMF
Secondary outcome: High level of Serum Amyloid A (SAA) in serum
Detailed description:
The diagnosis of FMF is mainly clinical and genetic tests are only used to confirm the
diagnosis . Even though the disease is autosomal recessive, not all FMF patients have two
recognizable MEFV mutations. The phenotype of FMF patients varies according to the
genotype, as shown by a number of studies showing that patients with one MEFV mutation have
milder disease or even no symptoms. Some of the previously mentioned studies have shown that
ceasing colchicine prophylaxis in these patients caused no recurrence. So far, no
prospective controlled study has tested the effect of colchicine cessation in this group of
FMF patients. The investigators presume that asymptomatic FMF patients with a single
mutation can stop regular colchicine treatment while remaining under close follow-up.
The purpose of the work:
To examine the effect of colchicine cessation in a defined group of asymptomatic FMF
patients with a single mutation in MEFV gene.
Methods and study population:
The work will be a controlled prospective comparative study including FMF patients aged
2-18 years. Patients included will be those who were asymptomatic for six months prior to
entering the study and were regularly treated with colchicine, and with a normal serum
level of Serum Amyloid A (SAA). The study group will include patients with a single MEFV
mutation that will stop colchicine therapy, and the control group will include FMF who will
continue regular colchicine treatment. Follow-up in both groups will include clinical and
laboratory (serum SAA levels) evaluation.
The study end points and renewal of the colchicine:
Any patient that develops acute symptoms of FMF will be immediately invited to the
rheumatology clinic for medical examination. In addition, patients will be invited to the
clinic after 3 and 6 months from the beginning of the study. At any clinic visit (scheduled
or not) the patients will be assessed clinically and laboratory (serum SAA levels). The
study will be stopped and colchicine will be renewed if at any of the above mentioned clinic
visit the patient will be diagnosed as having a classic FMF attack or the SAA level will be
above 10 mg / l.
The importance of the study:
If the investigators conclude that colchicine prophylaxis can be safely discontinued in this
group of FMF patients this will save them a treatment currently defined as a treatment for
life.
Eligibility
Minimum age: 2 Years.
Maximum age: 18 Years.
Gender(s): Both.
Criteria:
Inclusion Criteria:
- Patients diagnosed with FMF based on clinical criteria
- FMF patients diagnosed of having at least one common MEFV mutation will be assigned
to the study group. FMF patients who staid on colchicine treatment will be assigned
to the control group, regardless of their genotype.
- Patients who were on a continuous colchicine prophylactic treatment for six months
prior to entering the study.
- FMF patients who were free of acute FMF symptoms for six months prior to entering th
study
- Patients were included in the study only if they had normal serum level of SAA (up to
10 mg / l).
Exclusion Criteria:
- Patients that in the six months prior to entering the study continued to have classic
FMF episodes despite being on a continuous prophylactic colchicine
- Patients that had high level of SAA (above 10 mg/l) despite being on prophylactic
colchicine treatment
Locations and Contacts
Pediatric rheumatology clinic, Rambam Medical Center, Haifa, Israel
Schneider children's hospital, Petach Tikva, Israel
Additional Information
Starting date: June 2014
Last updated: June 25, 2014
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