Familial Mediterranean Fever

Researchers are evaluating the treatment patterns, 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). This observational study focuses on patients who have received canakinumab treatment for at least six months to understand its use in real-world settings across Europe and Israel. The study includes three groups of patients: those with FMF, SJIA, and AOSD, all of whom have been treated with canakinumab for at least six months. It tracks treatment use and responses over time, including the use of other biologic agents like anakinra and tocilizumab. The research assesses various outcomes up to three years after starting canakinumab, including disease activity, remission status, steroid usage, treatment switches, hospitalizations, medical visits, and quality of life. Participants' medical records and data will be reviewed for clinical characteristics, treatments, hospitalizations, diagnostic and laboratory tests, and quality of life measures over a follow-up period of up to three years. The study aims to measure how many patients achieve inactive disease or remission and track other treatment responses. Data collection includes information before, during, and after canakinumab treatment to provide a comprehensive understanding of patient outcomes and long-term management.

Researchers are evaluating the need for antibiotic prevention in patients with chronic liver disease who have gastric varices and are treated with elective endoscopic injection of cyanoacrylate (GVO). Gastric varices can cause serious bleeding with a high chance of rebleeding and mortality. While endoscopic injection of tissue glue is effective in stopping acute bleeding, it still carries risks of rebleeding and infection, which are important concerns for patients with weakened immune systems due to liver conditions. The study compares two groups: one receiving an antibiotic called ertapenem injected intravenously before the endoscopic cyanoacrylate injection, and the other not receiving this antibiotic before the procedure. The trial is randomized and aims to clarify whether giving this antibiotic can help prevent infections and complications after GVO treatment. The treatment is delivered during an elective endoscopic procedure to manage gastric varices. Participants will be monitored for three years to evaluate key outcomes such as the prevention of sepsis, rebleeding rates, refractory bacterial infections, and mortality. Assessments will include tracking infections and bleeding events over time. The study is designed to provide long-term data on the benefits and risks of using antibiotic prophylaxis in this patient group, with ongoing safety monitoring throughout the follow-up period.

Researchers are evaluating whether AI-enabled, nurse-led treatment planning can match or improve the quality of clinical reasoning and management compared to standard physician-led care in adults aged 18 years and older. The study focuses on patients in rural and semi-urban India presenting with hypertension, diabetes mellitus, fever, breathlessness, or musculoskeletal pain. It aims to determine if nurse consultations supported by a large language model (LLM) achieve clinical quality scores that are not worse than those of physician consultations and to assess patient acceptance and satisfaction with AI-assisted nurse care. Participants receive two consultations during the same visit: one led by a nurse using an AI-based clinical decision support tool and one by a physician providing standard care. The nurse-led consultation involves routine history taking and clinical assessment, with interaction through a digital interface to the LLM for assistance in diagnosis, reasoning, and treatment planning. The physician consultation follows usual clinical practice without AI support. The study compares these two approaches in a randomized order within each participant. Throughout the study visit, both consultations are audio recorded for blinded clinical quality evaluation. After the nurse + LLM consultation, participants complete an exit survey measuring communication, trust, and satisfaction. Researchers also gather nurse-reported feedback on acceptability and feasibility through interviews after nurses complete at least 10 AI-assisted consultations. The main outcome measured is the clinical quality of the consultations immediately after both visits, with additional assessments of patient experience and nurse perspectives over up to nine months.

Researchers are investigating genetic factors that may contribute to human disorders of inflammation, including conditions like VEXAS syndrome and other autoinflammatory diseases. This exploratory natural history study aims to better understand these diseases by identifying genetic causes, examining immune system features, and describing clinical characteristics through medical record review. Participants include those with known or suspected autoinflammatory diseases, their family members, and healthy volunteers. Samples such as blood, saliva, hair, nails, or cheek swabs may be collected for genetic and immunologic studies. Some participants might also undergo skin biopsies. The study is observational and involves no treatment interventions. During the study, researchers will collect biological samples and review medical histories to discover genetic variants linked to inflammatory diseases. The main outcomes measured are the numbers of newly identified genetic changes that may cause or increase susceptibility to these disorders. Participation involves providing samples, consenting to medical record review, and may include follow-up over several years to monitor findings.

Researchers are investigating autoinflammatory diseases (AID), which involve recurring inflammatory episodes without infection, cancer, or adaptive immune system problems. This study focuses on both monogenic hereditary periodic syndromes and polygenic or multifactorial AID, including rare conditions like Behçet's disease, Still disease, Schnitzler's disease, PFAPA syndrome, chronic recurrent multifocal osteomyelitis, non-infectious uveitis and scleritis, among others. The goal is to gather detailed data to improve understanding and management of these rare diseases through an international collaboration. The study uses the AIDA registry, a secure online platform for collecting demographic, genetic, clinical, laboratory, radiologic, and therapeutic information. Data are gathered retrospectively and prospectively during routine clinical visits scheduled every 3-6 months. Eleven registries focus on different AID conditions, enabling comprehensive data collection to identify clinical patterns, treatment impacts, and long-term outcomes over a period of at least 10 years. Participants provide information during their usual care visits, allowing researchers to track changes in disease activity, organ involvement, inflammatory markers, visual function, pain levels, fatigue, fertility, and socioeconomic factors. The study monitors these outcomes over multiple timepoints up to 120 months. Data privacy is ensured by pseudonymizing patient information. This registry supports multiple clinical studies and aims to enhance knowledge, awareness, and future research on autoinflammatory diseases worldwide.

Rare diseases affect about one in 2,000 people, including approximately three million in France, and many are genetic, often beginning severely in childhood. This research focuses on rare pediatric autoimmune and autoinflammatory diseases such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis. These diseases involve either the body's adaptive immune system attacking itself or an excessive innate immune response, and the exact causes remain not fully understood. Recent advances have improved diagnosis, especially in early, familial, and syndromic cases, but studying these conditions is challenging due to their rarity and limited biological samples. The study aims to build a biological collection of samples including primary cells, DNA, RNA, lymphoblastic lines, and serum. This collection will support various research projects to identify genetic and immunological abnormalities linked to these rare diseases. Participants include minors or adults with rare dysimmune diseases starting in childhood or with familial or syndromic forms, as well as healthy volunteers, with no upper age limit but weighing over 5 kg. Participants provide blood samples for genetic analysis and immunological assessments to identify mutations and biomarkers related to disease diagnosis, prognosis, and activity. Researchers will measure mutations responsible for these diseases and assess disease activity using tools like the Systemic Lupus Erythematosus Disease Activity Index and biomarkers including anti-double stranded DNA and interferon levels. The study includes consented patients and healthy volunteers affiliated with social security, with ongoing monitoring for safety and comprehensive data collection throughout the study period.

Researchers are investigating autoimmune diseases, systemic vasculitis, and autoinflammatory diseases to find biomarkers in cytokines and lymphocytes that show disease activity. The goal is to develop follow-up markers that help personalize monitoring and treatment for each patient. These diseases affect the immune system with varying severity, and current treatments mainly control inflammation but often lead to relapses without clear ways to predict them. The study collects blood and tissue samples as part of regular patient care to analyze immunological data. Conducted at a specialized medical center certified for rare autoimmune and inflammatory diseases, this observational study focuses on advancing fundamental knowledge and identifying prognostic markers through blood tests. Participants include patients with various autoimmune and autoinflammatory diseases who will provide additional blood samples beyond routine care. Participants will undergo biological sample collection during their usual care visits, with researchers monitoring cytokine and lymphocyte profiles over approximately nine years. The study aims to correlate these immune profiles with disease activity, progression, clinical presentation, and relapse frequency. This long-term observation helps understand disease evolution and supports personalized care. Safety and usual medical care continue throughout the study period.

This research evaluates the accuracy and consistency of an AI platform called OpenGenome that analyzes free-text symptom descriptions submitted voluntarily by adults. The study collects anonymous symptom data and matches it with real biomedical literature from PubMed and ClinicalTrials.gov to generate structured biological signal reports. It aims to assess how well the extracted signals align with sources, how confidence scores correlate with dataset size and symptom specificity, and the distribution of biological signals across a large population. Adults aged 18 or older can submit free-text symptom descriptions via the OpenGenome platform, which then uses an AI-assisted method to extract primary and secondary biological signals grounded in biomedical evidence. For each submission, the system retrieves up to 16 relevant sources and provides a confidence score and signal strength. No treatment or intervention is given, and no participant contact occurs during the observational registry. Participants are involved by voluntarily submitting symptom descriptions online through the platform, with all data anonymized at collection. The study continuously monitors the internal signal-source concordance rate over 12 months. There are no in-person visits or direct assessments, ensuring privacy and minimal burden. This ongoing data collection helps researchers understand the platform's accuracy and signal calibration in a broad anonymous population.

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease caused by mutations in the MEFV gene, leading to inappropriate inflammatory responses. FMF causes recurrent episodes of fever and inflammation, with symptoms like chest, abdominal, and joint pain. Researchers are studying the possible link between FMF attacks and dietary triggers such as wheat, as well as symptoms related to gluten/wheat sensitivity not linked to celiac disease or wheat allergy, called Non-Celiac Wheat Gluten/Sensitivity (NCGS/NCWS). The study involves FMF patients and control subjects who will complete questionnaires to evaluate their demographics, genetics, clinical symptoms, and self-perceived sensitivity to wheat or other foods. The questionnaires will assess whether ingestion of wheat or other foods triggers FMF attacks or causes gastrointestinal and extraintestinal symptoms compatible with NCGS/NCWS. The study will compare differences between FMF patients with and without these food-related triggers. Participants will be asked to complete questionnaires about their symptoms and food sensitivities. Researchers will assess the prevalence of self-perceived wheat or food triggers for FMF attacks and NCGS/NCWS symptoms. They will also analyze genetic, clinical, and demographic differences among patients based on these self-reports. The study will run from May 2024 to May 2025, focusing on these outcomes to better understand the relationship between diet and FMF flare-ups.

Familial Mediterranean fever (FMF) is a common auto-inflammatory disease caused by mutations in the MEFV gene, which affects the Pyrine inflammasome involved in immune response. Researchers are evaluating a quick and simple functional test that measures interleukin-1b2 activation to help diagnose FMF and distinguish different genetic mutations in patients. This study aims to better characterize this test's ability to screen for FMF mutations. The study involves collecting an additional blood sample during a routine blood test, with 4 ml taken for children under 12 and 10 ml for those 12 and over, including adults. Participants include children and adults with FMF and healthy blood donors. The research does not alter usual care and focuses on correlating genotype and phenotype through this functional test. Participants will have their interleukin-1b2 levels measured at inclusion using this blood sample. The study requires no changes to regular treatment and poses no additional risk beyond the extra blood draw. The study is observational, with healthy volunteers included for comparison, and will continue until July 2029 as researchers analyze the test's diagnostic capabilities and genotype correlations.