Active clinical trials for "Familial Mediterranean Fever"

Background: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever syndrome of childhood. Symptoms can include swelling of the glands in the throat, mouth ulcers, and tonsillitis. Removal of the tonsils can stop the periodic flareups. But researchers do not know how PFAPA develops. In this natural history study, researchers will collect specimens and data from people with PFAPA to see what they might have in common. Objective: To collect blood and other specimens from people with PFAPA to learn more about the illness. Eligibility: People aged 1 month or older with symptoms of PFAPA or another tonsil disorder. Design: Participants will be screened. Their medical records will be reviewed. Researchers will ask about a family history of PFAPA. The following specimens may be collected: Blood. Blood will be drawn either from a needle inserted into a vein or from a prick in the finger or heel. Mucus and cells. A stick with soft padding on the tip may be rubbed inside the nostrils or mouth. Stool. Saliva. Tissue samples may be taken if participants are having surgery to remove the tonsils or adenoids. Participants having surgery may also have a nasopharyngeal wash; salt water will be squirted into the back of the throat and then sucked back out with a syringe. Most participants will provide specimens only once. They can do this in person at the clinic; they can also have their local health providers send specimens to the researchers. Some participants may have optional follow-up visits over 10 years.

Familial Mediterranean Fever (FMF) genetic diagnosis is well established for homozygous patients. On the other hand, although heterozygous individuals are theoretically healthy carriers, 1/3 of them will develop clinical symptoms of FMF and could benefit from prophylactic treatment. This suggests that the disorder expression mechanisms are not fully elucidated to date. The preliminary results obtained at the Institute for Regenerative Medicine and Biotherapy (IRMB) suggest the involvement of an epigenetic mechanism in FMF pathogenesis, and our laboratory has strong arguments as to the involvement of microRNAs (in particular miR-326) which are negative regulators of gene expression. This study is exploratory and aims to validate the role of miRNAs in the clinical expression of FMF in patients, thus to explore the epigenetic mechanisms that may explain the variability of expression of this disorder.

Familial Mediterranean fever (FMF ,recurrent polyserositis ,periodic disease) is an autosomal recessive auto inflammatory disease which primarily affect population surrounding the Mediterranean basin (Arabs , Turks ,Armenians, Jews ).Despite its striking symptoms pattern FMF was first described as distinct entity only in 1945. It is characterized by recurrent attacks of fever , peritonitis ,pleurisy , arthritis , or erysipelas like skin disease. The most dangerous complication of this disease is secondary amyloidosis . FMF diagnosis is mainly clinical, and the genetic testing is indicated to support it . Uncommonly, amyloidosis may develop in individuals carrying two Familial Mediterranean fever gene (MEFV ) mutations without overt clinical symptoms of FMF, a condition designated as phenotype II. Furthermore, two MEFV mutations may be harbored without signs or symptoms of FMF nor of reactive amyloidosis. This 'silent' homozygous or compound heterozygote state is termed phenotype III.

There now causation between Heat Intolerance and FMF that were showed in studies till now. We suggest that the prevalence of Heat Intolerance in the group of the FMF patients will be significantly higher than in the group of healthy individuals, that participated in the study of Heller Institute of Medical Research. The aim of the study is verification of causation between these pathologies. The information obtained by the study may allow us to determine the sequence of events associated with FMF attack development, and perhaps take us one step further in the understanding of the pathogenesis of the disease. 15 FMF patients with double mutations MEFV, mail sex, from the age from 18 to 30 without attacks during not less than 2 month will participate in the study. To identify an individuals susceptibility to exercise heat test, a Heat Tolerance Test (HTT) will perform, according to HTT Protocol of Heller Institute of Medical Research.

Establish the safety and efficacy of 3 months treatment with canakinumab in patients with colchicine resistant Familial Mediterranean Fever.

Adult patients with Familial Mediterranean Fever, who have active disease

It was aimed to examine the efficacy and safety of once daily dosage schema of colchicine in pediatric patients with FMF compared to twice daily dosage schema. In this 24-week, multicentric, randomized, controlled, noninferiority trial, pediatric patients newly diagnosed with FMF, carrying homozygote or compound heterozygote mutation and did not receive any treatment, were included. Patients were randomly assigned using block randomization method to receive treatment with once or twice daily doses. Clinical and laboratory characteristics and medication side effects were recorded and compared between groups. The study complied with Good Clinical Practice and the Consolidated Standards for Reporting of Trials (CONSORT) statement.

This study is to determine whether canakinumab is able to induce and maintain a clinically meaningful reduction of disease activity in participants with Hereditary Periodic Fevers (HPF) compared to placebo.

A study designed to evaluate the role of treatment with a biological agent - Canakinumab in pediatric (age 4-20) Familial Mediterranean Fever (FMF) patients that are intolerant or resistant for colchicine treatment. The study hypothesis is that Canakinumab will reduce attack frequency and severity.

The primary objective of this study was to evaluate safety and tolerability of ACZ885 in this extension study. This extension study offered the opportunity for participants who completed Epoch 4 of the preceding CACZ885N2301 (NCT02059291) study to continue to be treated with ACZ885 until approval in Japan of the drug in Periodic Fever Syndromes or until development of ACZ885 in Periodic Fever Syndromes was suspended.