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 Stills disease, including systemic juvenile idiopathic arthritis SJIA and adult-onset Stills disease AOSD, who have received canakinumab for at least six months. The study aims to understand how canakinumab is used in real-world settings among these patient groups and to assess their responses over time. The study is observational and does not involve assigning any treatments. It includes patients who have been prescribed canakinumab prior to October 2021 and have used it for at least six months. The patient cohorts consist of those with FMF, SJIA, and AOSD. Researchers collect data retrospectively on clinical characteristics, treatment regimens, and medication use patterns over a period of at least three years following the start of canakinumab treatment. Participants medical records and treatment histories are reviewed to measure outcomes such as rates of clinically inactive disease, remission, response levels, and treatment discontinuation reasons over up to three years. Additional assessments include hospitalizations, medical visits, diagnostic and laboratory tests, and quality of life scores. This comprehensive data collection helps characterize patient experiences and treatment effects under usual care conditions without altering the therapy received.

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 exploring the natural history and genetics of autoinflammatory and autoimmune diseases, including VEXAS syndrome and related disorders. This study aims to discover genetic factors contributing to these inflammatory conditions and to enhance understanding of their immune system mechanisms. It also seeks to describe clinical features of poorly characterized diseases through chart reviews of routine medical care. Participants include individuals with known or suspected autoinflammatory diseases, family members related by blood or marriage, and healthy volunteers. Samples such as blood, saliva, hair, nails, or buccal swabs may be collected for genetic and immunologic studies. Some participants might undergo skin biopsies. The study involves genetic analysis and functional immunologic tests to identify disease-associated variants and features. During the study, participants provide samples for laboratory analysis and may have their medical records reviewed. Researchers measure the number and types of genetic variants linked to inflammatory diseases over up to five years. Study involvement includes mail-in sample collection and possible clinical evaluations. The total participation time can extend up to the study end date in 2032, with ongoing data collection and analysis to improve understanding of these conditions.

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 Behets disease, Still disease, Schnitzlers 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 bodys 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 platforms 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 glutenwheat sensitivity not linked to celiac disease or wheat allergy, called Non-Celiac Wheat GlutenSensitivity NCGSNCWS. 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 NCGSNCWS. 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 NCGSNCWS 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 tests 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 tests diagnostic capabilities and genotype correlations.

Researchers are exploring a new way to personalize treatment for autoimmune and autoinflammatory rheumatic diseases. This study aims to develop and use a special cell-based test that helps predict how well patients will respond to disease-modifying antirheumatic drugs DMARDs. By identifying the best treatment for each person, the study hopes to improve treatment success, shorten the time to see benefits, and lower healthcare costs. The approach focuses on analyzing immune cells from patients to better understand their response to different therapies. The study includes several groups newly diagnosed patients without prior treatment, patients already on immunomodulatory therapy, and healthy individuals for comparison. Blood samples are collected at different times depending on the group. Researchers use advanced laboratory methods to test immune cell responses to DMARDs outside the body, measuring specific immune signals and gene activity. Archived tissue samples are also studied to link immune profiles with disease features. This design allows detailed analysis of immune function related to treatment. Participants will provide blood samples and undergo clinical assessments over time, including baseline and follow-up visits at 6 and 12 weeks, with additional optional visits if disease worsens or treatment changes. The study measures changes in immune cell types and activity using the ex vivo assay and other tests. Data are stored securely, and the study will compare predicted responses with actual clinical outcomes to validate the tests usefulness. Participants involvement may last up to a year, with ongoing monitoring and data collection to support personalized therapy development.