Active clinical trials for "Hereditary Autoinflammatory Diseases"

Familial Mediterranean Fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is due to mutations of the MEFV gene, encoding variants of the Pyrin inflammasome. Inflammasomes are protein complexes of innate immunity producing pro-inflammatory cytokines (interleukin-1β). In vitro, preliminary results demonstrated that activation of the Pyrin inflammasome (measured by interleukin-1β concentration) by kinase inhibitors is significantly increased in FMF patients compared to subjects with a similar clinical picture, and healthy controls. In addition, a measure of cell death yielded significant results in differentiating patients from controls. The investigators hypothesize that this fast and simple functional test can serve as a diagnostic tool for FMF.

Motor imagery is the mental representation of movement without any doing body movement. A main function of imagery is to aid the self-regulation of thoughts, feelings, and behaviours. Studies have shown to be more effective for individuals displaying a higher level of imagery ability when using imagery to improve motor and motivational outcomes, including self-efficacy. The aim of this study is to measure the movement imagery ability in patients with Familial Mediterranean Fever and compare it with healthy individuals.

Familial Mediterranean fever (FMF) is a genetic disease, caused by mutations in the FMF gene, entitled MEFV. The disease is characterized by painful attacks of inflammation in sites lined by serous membranes (e.g. abdominal pain caused by inflammation of the peritoneum, a serous membrane surrounding all internal organs within the abdomen). Continuous colchicine treatment prevents attacks in most patients. The pathogenesis of the disease, what leads to the attacks and how colchicine helps, are questions not yet resolved. Elucidating the role of the inflammatory proteins is an important step towards the understanding of these questions. To date only small numbers of cytokines and inflammatory proteins have been studied individually. We propose to study a large number of these proteins in the RNA and protein levels addressing the interaction between them and the effect of colchicine on their expression. Blood samples will be drawn from consenting patients in remission, during attacks, under and without colchicine treatment. (20 patients in each category).Twenty healthy volunteers will donate control blood samples for the study. RNA will be produced from the neutrophils, and cytokines and various proteins' RNA expression will be determined. Major expressed proteins will be measured in the same samples and the results will be analyzed with regard to the activity of the disease, MEFV mutations and colchicine treatment status. 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.

Kinesiophobia is a common problem in patients with rheumatic disease and can cause physical inactivity, social isolation, disability, and poor quality of life. This study aimed to evaluate kinesiophobia and associated factors in patients with familial Mediterranean fever (FMF). All patients were evaluated in terms of sociodemographic characteristics and assessed using the Tampa Kinesiophobia Scale (TKS), International Physical Activity Questionnaire (IPAQ), Fatigue Severity Scale (FSS), and Hospital Anxiety and Depression Scale (HADS).

Familial Mediterranean Fever (FMF) is an autosomal recessive inherited disease with a course of autoinflammation, which is characterized by the episodes of fever and serositis. Central sensitization (CS) is defined as increased response to normal or sub-threshold stimuli of central nervous system and its close relationship with many rheumatological diseases has been demonstrated in several studies. However, there are no data on the frequency of CS in FMF patients.

Erysipelas-like erythema (ELE) and arthritis are common manifestations affecting the ankle in Familial Mediterranean Fever. Musculoskeletal ultrasound examination of the ankle has never been performed during an episode of ELE. We hypothesize that ELE is associated with underlying musculoskeletal pathology. In order to support this hypothesis, ankle musculoskeletal ultrasound will be performed within 24 hours of onset of ELE in 15 patients diagnosed with FMF. Results will be correlated with clinical parameters, serum inflammatory markers, and ankle radiography.

Rare systemic auto inflammatory diseases are a group of diseases that can be inherited and have non specific symptoms (fevers, rashes, joint pain, etc.). These diseases can be divided into two groups: Diseases for which genetic mutations have been identified The so-called genetically undetermined diseases for which no genetic mutation has been identified and for which the diagnosis is based on the elimination of other causes of disease At present, the causes and mechanisms of these diseases are poorly understood and their diagnosis is difficult, often leading to misdiagnosis. The usual care integrates anti-inflammatory treatments (aspirin, colchicine, cortisone, biotherapies, etc.) and support for patients and their families by health professionals (doctors, nurses, physiotherapists, etc.). To date, a patient with one of these diseases can receive up to 5 inappropriate or ineffective treatments before the right diagnosis is made and the right therapy is put in place. The objective of this study is to develop rapid and effective diagnostic methods for these diseases by the identification of biological markers present in blood, urine or stool of patient in order to develop a rapid and efficient diagnostic method.

This qualitative interview-based study aim to build a tool to assess quality of life in patients (adults or children) suffering from 6 autoinflammatory diseases (FMF, TRAPS, CAPS, MKD, Still and PFAPA).

Behcet' disease (BD) is a chronic inflammatory disease which is characterized by oral and genital ulcers, uveitis and skin lesions. Musculoskeletal involvement such as arthrits, arthralgia, enthesis and sacroiliitis can be seen in course of BD. FMF is an autosomal recessive family disease characterized by abdominal pain, chest pain, joint pain and fever attacks as a result of inflammation of the serous membranes. FMF patients have been shown to experience higher levels of pain, fatigue, depression and anxiety than healthy controls, and this has increased sleep disturbance and reduced quality of life. FMF and BiH have common characteristics such as ethnicity, etiopathogenetic mechanisms, symptoms, and treatment. In December 2019, after the officially detected coronavirus (severe acute respiratory syndrome coranavirus-2 [SARS-CoV-2]) resistant to unknown treatment and rapidly spreading coronavirus in our country on March 11, 2020 in Hubei province of China, the number of cases increased rapidly and virus was isolated in 670 patients within 10 days. Ongoing concerns about the spread of Covid-19 infections have caused many measures to be taken. Among them, social isolation, home quarantine and avoiding collective places are the most important. In our country, in the process of social isolation, the areas of movement of Behçet and FMF patients, like everyone else, were restricted, their stress and anxiety levels increased and their motivation decreased. The aim of our study is to compare the pain, sleep, fatigue, physical activity level and quality of life and question exercise habits before and after the covid-19 outbreak in patients with Behçet and FMF.

Familial Mediterranean fever (FMF) is an inherited disorder of unknown etiology, characterized by recurrent episodes of fever, peritonitis and/or pleuritis. Fever is the cardinal manifestation of FMF and is present in most attacks accompanied by abdominal pain. Another clinical manifestation in patients with FMF is exertional muscle pain, usually in the thigh, which appears even after minor exercise or physical activity in young patients with generally good health (other than FMF) and in good physical condition. Some patients also complain of ankle edema after relatively minor physical activity, which subsides after a night rest. Although these manifestations are quite common in FMF patients and form part of the minor criteria for the diagnosis, the etiopathogenesis has not been examined. The purpose of the suggested study is to evaluate and characterize the anatomical and biochemical changes in the muscles of the thigh and in the ankle triggered by physical activity in FMF patients complaining of exertional lower leg myalgias and edema after minor physical exercise.