Clinical Research Directory

A Study on the Use of Canakinumab Among Familial Mediterranean Fever and Still's Disease Patients

This study aims to assess and characterize the treatment patterns, and long-term clinical outcomes and demographic characteristics of patients diagnosed with Familial Mediterranean fever (FMF) and Still's disease (including systemic juvenile idiopathic arthritis \[SJIA\] and adult-onset Still's disease \[AOSD\]) that received canakinumab for at least 6 months.

AGE and CALLY Index in Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent inflammatory attacks and persistent low-grade inflammation. Even during attack-free periods, subclinical inflammation may continue and contribute to long-term complications. Advanced glycation end products (AGEs) are molecules that accumulate under chronic inflammatory and oxidative stress conditions. AGEs can be measured non-invasively using skin autofluorescence (SAF). The C-reactive protein-albumin-lymphocyte (CALLY) index is a composite marker derived from routine laboratory parameters and reflects systemic inflammation and nutritional status. This observational cross-sectional study aims to evaluate the association between skin autofluorescence-measured AGE levels and the CALLY index in patients with FMF. The study will also compare AGE levels between FMF patients and age- and sex-matched healthy controls. The study does not involve any intervention, treatment assignment, or randomization. All laboratory parameters will be obtained from routine clinical evaluations, and AGE measurement will be performed using a non-invasive device.

Outcomes of Inspiratory Muscle Training in FMF Adolescents

Familial mediterranean fever (FMF) is common to be diagnosed before age of 18 . this disorder is connected with deterioration in exercise tolerance, pulmonary capacities, fatigue tolerance,

is There an Effect of Adding Body Vibration to Intake of Vitamin D on Some Outcomes of Familial Mediterranean Fever

Familial mediterranean fever (FMF) is common in mediterranean region. this disorder is connected with deterioration in functional performance, fitness of cardiorespiration, muscle strength, and bone mass

Mediterranean Diet in Familial Mediterranean Fever: Is Fatty Liver Affected by Addition of Aerobic Exercise

Familial Mediterranean fever (FMF) affect liver and causes some dysfunctions including non-alcoholic fatty liver.. still exercise and diet limitation is the treatment for this case

Health-related Quality of Life, Electrocardiographic and Holter Findings in Children With Familial Mediterranean Fever

Familial Mediterranean fever (FMF) also known as 'periodic peritonitis,' 'familial paroxysmal polyserositis,' 'periodic disease,' 'Siegal-Cattan-Mamou disease,' 'Wolff periodic disease' or 'Reimann syndrome' is an autosomal recessive autoinflammatory disease that causes recurrent fevers and serositis. FMF is caused by a mutation in the Mediterranean fever (MEFV) gene located on the short arm of chromosome 16. This gene produces a protein called pyrin which binds to an apoptosis-associated speck-like protein (ASC) and caspase-1 to inhibit activation of IL-1beta (interleukin) and hence, the inflammatory pathways. Mutation of MEFV genes disrupts pyrin protein and its function, which leads to activation of IL-1beta and then the entire inflammatory pathway. FMF affects primarily the populations located on the Mediterranean basin mainly Armenians, Turks, Arabs and non-Ashkenazi Jews. However, some new cases have been described in European countries. Turkey is presumed the country with the highest number of FMF patients worldwide, with a prevalence ranging from 1:400 to 1:1000. The exact prevalence of FMF among Arab countries is unknown. FMF manifests as recurrent attacks of fever and serositis causing severe chest, abdominal, or joint pain. Erysipelas like lesions, scrotal swelling and myalgia can also occur. Patients feel normal between attacks. The severity of the attacks may vary each time, and the time between two attacks could be anywhere from one week to even several years. Some patients reported particular triggers with the appearance of attacks like severe stress, cold exposure, heavy exercise, recent infection, recent surgery, and menstruation. The first attack frequently occurs in childhood, and it usually begins before the age of 20 years. All attacks develop over 2 to 4 hours and last anywhere from 6 hours to 4 days. Colchicine has been the treatment of choice for this disease since 1972. Amyloidosis is the most common complication of FMF, determining whether the prognosis of the disease is associated with progression to nephrotic syndrome and end-stage renal disease. Colchicine prevents the occurrence of amyloidosis, to stop amyloidosis, and even regress it. The duration of the disease is not the main cause of amyloidosis but specific genetic and environmental conditions is necessary. Early atherosclerosis, ankylosing spondylitis and peritoneal mesothelioma due to chronic inflammation were also reported. WHO (1997) defined quality of life (QoL) as someone's perception of his position in life depending on the cultural environment, his goals, expectations, principles and values. It is a multidimensional concept, encompasses individuals' physical, emotional health, psychological state, level of independence, social achievements and spiritual state. QoL is dynamic; its perception changes with changing priorities and beliefs of the individual (5). Health related quality of life (HRQoL) is the effect of medical disorder or treatment on individual's physical, emotional, and social well-being. The HRQoL measurement therefore attempts to capture QoL in the context of one's health and illness. In addition, HRQoL also involves an individual's satisfaction about his life, general health and well-being. WHO declared that the goal of treatment not merely to decrease symptoms and improve signs but also to improve patient's HRQoL. HRQoL has been progressively acknowledged as an essential outcome measure in clinical trials and health service research and evaluation. It is essential to evaluate QoL to clearly understand the effects of diseases on children to help making decisions and adjust plans. Moreover, improving the QoL in children and adolescents with chronic diseases is a very important long-term goal in paediatric rehabilitation. Thomas and colleagues in their research studied HRQoL of 118 children with FMF and 100 healthy controls in Cairo using PedsQL 4.0 Generic Core Scale and illustrated that HRQoL was significantly lower in FMF compared to healthy controls (mean ± SD of total score was 33.97 ± 12.61 and 85.29 ± 14.03, for diseased and control group respectively, P value: \<0.001). Also, HRQoL total score was significantly negatively correlated with frequency of the attacks (r = -.49, P value: \<0.001) and with disease severity (r = -0.74, P value: \<0.001). (8) Cardiovascular system involvement is among the causes of high morbidity and mortality in FMF. Different cardiovascular complications had been reported in FMF as valvular affection, pericarditis, pericardial effusion, cardiomyopathy and ventricular dysfunction were reported among patients with FMF. FMF causes also variations in the duration of the action potential creating cardiac repolarization abnormalities causing arrhythmias even without the presence of amyloidosis and can occur' not only during periods of attack but also in patients who do not experience attack. (9) Cardiac autonomic nervous system (ANS) plays an integral

Can Gluten/Wheat or Other Foods be Responsible for FMF Attacks

Familial Mediterranean Fever (FMF) is a chronic hereditary autoinflammatory disease caused by mutations in the MEditerranean FeVer (MEFV) gene which codes for pyrin. Dysfunction of this protein determines an inappropriate response to inflammatory stimuli. The clinical course of the disease is characterized by recurrent episodes of fever and inflammation of the serous membranes, which manifest with chest, abdominal and joint pain. Several studies suggest a possible association between acute FMF attacks and dietary triggers, including wheat. However, it is still unclear to what extent wheat is responsible for the reactivation of FMF and if, between one acute attack and another, patients with FMF experience other symptoms, both gastrointestinal and extraintestinal, characteristic of gluten/wheat sensitivity not linked to celiac disease or immunoglobulin E (IgE)-mediated wheat allergy (i.e. Non-Celiac Wheat Gluten/Sensitivity, NCGS/NCWS). Therefore, this study aims to evaluate the appearance of symptoms compatible with an acute attack of FMF following the ingestion of wheat or other foods, and the prevalence of self-perceived gluten/wheat sensitivity in patients with FMF.

Caspase-1 Activity, IL-1beta, and IL-18 in Patients With FMF

This study aims to investigate the intestinal mucosal expression of key inflammatory markers, namely Interleukin-1 (IL-1), Interleukin-18 (IL-18), and Caspase-1, in patients with Familial Mediterranean Fever (FMF). FMF is an autoinflammatory disorder characterized by recurrent episodes of fever and serosal inflammation. Recent studies suggest a possible role of intestinal immune activation in the disease pathogenesis, particularly through inflammasome-related cytokines. To better understand mucosal involvement in FMF, immunohistochemical staining for IL-1, IL-18, and Caspase-1 will be performed on intestinal biopsy samples obtained during routine endoscopic procedures. The staining intensity and distribution patterns will be evaluated and compared with age- and sex-matched healthy controls. The findings may help clarify mucosal inflammatory pathways involved in FMF and provide insight into novel therapeutic targets.

Safety and Efficacy of RPH-104 Used to Prevent Recurrent Fever Attacks in Adult Patients With Colchicine Resistant or Colchicine Intolerant Familial Mediterranean Fever

The purpose of this study is to assess safety and efficacy of the long-term treatment with RPH-104 at doses of 80 or 160 mg once every 2 weeks (q2w) in patients with familial Mediterranean fever (FMF) with colchicine resistance or intolerance (i.e. colchicine resistant, crFMF), who completed the core study, during which they received at least one dose of RPH-104 (i.e. study patient population).

Efficacy and Safety of RPH-104 for Resolution and Prevention of Recurring Attacks in Adult Subjects With Familial Mediterranean Fever With Resistance to or Intolerance of Colchicine

Study purpose is an evaluation of efficacy and safety of RPH-104 in the population of subjects with Familial Mediterranean Fever (FMF) with colchicine resistance or intolerance(i.e. colchicine resistant (crFMF).. Primary objective is to determine proportion of subjects with complete response to treatment with RPH-104 compared to placebo among FMF subjects with colchicine resistance or intolerance.

Characterization of a Functional Test for Mediterranean Family Fever Screening - 2

Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β). In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls. The performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for MEFV mutations. The investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for FMF and can quantitatively discriminate against patients with different mutations (genotypes).

Physical Abilities of Teenagers With Familial Mediterranean Fever

Physical abilities of teenagers with familial Mediterranean fever