[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"autoinflammatory-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:autoinflammatory-disease":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,10,0,[8,45,81,102,130,163,186,213,235,257],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":27,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":4,"leadSponsor":41,"locationsCount":44},"100062399","studies-of-the-natural-history-pathogenesis-and-outcome-of-autoinflammatory-diseases-including-juvenile-dermatomyositis-100062399",false,"NCT00059748","Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis","Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis","* INCLUSION CRITERIA:\n* Patients with CANDLE, SAVI, and JDM who are mutation positive for the disease or fulfill clinical criteria of the disease.\n* Patients who fulfill criteria for definite or probable JDM\n* Patients with other suspected autoinflammatory diseases\n* There is:\n\n  * 2 years old or older\n  * Patients or their legal guardians need to be able and willing to give informed consent and a pediatric patient needs to be willing to assent to the protocol whenever possible.\n\nRelatives of patients with autoinflammatory diseases or healthy volunteers may be included for genetic testing. The genetic evaluations will be conducted in collaboration with Dr. Fleisher's laboratory at the Clinical Center laboratory and other groups. We may also collect blood for serum and RNA analyses to establish a cohort of healthy controls that is matched in age, gender and ethnicity to the study patients. Skin biopsies for research may be requested from patients, patient relatives and healthy volunteers\n\nEXCLUSION CRITERIA:\n\n* Active malignancy or any medical condition that in the opinion of the investigator would warrant exclusion\n* Inability to return for follow up visits\n* Pregnancy\n* Adults without the capacity to consent","ALL","2 Years","100 Years",{"count":20,"type":21},5000,"ESTIMATED","OBSERVATIONAL","Purpose:\n\nThe purpose of this protocol is 1. To comprehensively evaluate patients with autoinflammatory diseases clinically, genetically and immunologically at the autoinflammatory disease clinic at the NIH. 2. To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease (NOMID), the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes (CAPS), Deficiency of IL-1 Receptor Antagonist (DIRA), Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures (CANDLE), and STING-Associated Vasculopathy with onset in Infancy (SAVI), and those with genetically undefined autoinflammatory disorders to determine long-term disease outcomes. 3. To develop biomarkers that help us assess disease activity and response to treatment. 4. To assess the eligibility of affected patients for inclusion in ongoing and planned treatment protocols.\n\nGoal: The goals of our studies are to understand the underlying immune dysregulation, to identify the genetic cause and to translate our findings into novel treatments that improve patients disease outcome.\n\nEligibility:\n\n* Patients with known NOMID\u002FCAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, and with other yet undifferentiated autoinflammatory diseases.\n* Healthy adult and pediatric relatives.\n* Volunteers\n\nDesign:\n\nParticipants will be evaluated at the NIH for 2-5 days. All participants will have a detailed medical history, physical exam, blood tests and other evaluations depending on the extend of their autoinflammatory disease.\n\nParticipants may also expect the following assessments:\n\n1. Clinical test that help assess organ damage and functional impact such as hearing vision, memory and learning tests.\n2. Imaging studies to characterize the organ involvement of the inflammatory disease including: X-rays, CT scans, special MRIs, bone scans.\n3. Laboratory evaluations including clinical markers of disease activity, research samples for genetic studies, and blood samples for cytokine\u002Fbiomarker assessment, and gene expression profiling.\\\u003CTAB\\>\n4. Completion of questionnaires to assess disease activity and quality of life.\n5. If indicated, other procedures may be administered that include: a lumbar puncture if CNS inflammation is suspected and a skin biopsy if skin inflammation is present. other gastrointestinal procedures as they are clinically indicated.\n6. Patients my have a research skin biopsy taken.\n\nParticipants may return for a single follow-up visits or for long term-follow up depending on their disease and willingness to be followed long-term.",[25,26],"Autoinflammatory Disease","Juvenile Dermatomyositis",[28,29,30,31,32,33],"Myositis","JDM","Immune Dysregulation","Skin Rash","Inflammation","Natural History","RECRUITING","2026-06-04",{"date":37,"type":38},"2026-06-05","ACTUAL",{"date":40,"type":38},"2003-05-09",{"name":42,"class":43},"National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)","NIH",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":51,"eligibilityCriteria":52,"healthyVolunteers":53,"sex":16,"minAge":54,"maxAge":4,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":58,"briefSummary":60,"conditions":61,"keywords":65,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":71,"startDateStruct":73,"completionDateStruct":75,"leadSponsor":77,"locationsCount":80},"100549549","biocollection-of-rare-pediatric-onset-of-autoimmune-and-autoinflammatory-diseases-100549549","NCT06435468","Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases","Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases","GENIALII","Inclusion Criteria:\n\n* Patients\n* minor or adult patient of any age with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\\\u003C18 years), or syndromic or familial\n* relative of a minor or adult patient with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (\\\u003C18 years of age) or syndromic or familial,\n* weight greater than 5 kg\n* Patient\u002Fparents\u002Fguardians who were informed of the study and signed the consent form.\n* patient affiliated to a social security scheme\n\nHealthy volunteer participants\n\n* minor or adult participants with no age restrictions\n* weight over 5 kg\n* Subject \u002FParents\u002Fguardians who were informed of the study and signed a consent form.\n* Patient affiliated to a social security scheme\n\nExclusion Criteria:\n\nPatients\n\n\\- Subjects \u002FParents\u002Fguardians, refusing to participate in the study\n\nHealthy volunteer participants :\n\n* active infection (viral, bacterial, parasitic)\n* history of neoplasia (\\\u003C 5 years) or current neoplasia\n* participants with a personal or family history of autoimmune disease\n* immunocompromised participant (immune deficiency or transplant recipient)\n* Subjects\u002Fparents\u002Fguardians refusing to participate in the study\n* Adults under legal protection (guardianship, curatorship)",true,"1 Year",{"count":56,"type":21},400,"INTERVENTIONAL",[59],"NA","Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges.\n\nThis study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.",[62,63,25,64],"Systemic Lupus","Autoimmune Diseases","Genetic Disease",[62,66,67,68,69],"Genetic","rare autoimmune disease","rare autoinflammatory diseases","Pediatric-onset disease","2025-12-15",{"date":72,"type":38},"2025-12-22",{"date":74,"type":38},"2025-02-26",{"date":76,"type":21},"2035-07-27",{"name":78,"class":79},"Hospices Civils de Lyon","OTHER",13,{"id":82,"slug":83,"hasResults":11,"nctId":84,"briefTitle":85,"officialTitle":85,"acronym":86,"eligibilityCriteria":87,"healthyVolunteers":11,"sex":16,"minAge":88,"maxAge":4,"enrollmentInfo":89,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":91,"conditions":92,"keywords":4,"overallStatus":93,"whyStopped":4,"lastUpdateSubmitDate":94,"lastUpdatePostDateStruct":95,"startDateStruct":97,"completionDateStruct":99,"leadSponsor":101,"locationsCount":4},"100590735","development-and-characterization-of-functional-assays-for-the-analysis-of-inflammation-signaling-pathways-100590735","NCT06971289","Development and Characterization of Functional Assays for the Analysis of Inflammation Signaling Pathways","DEFI","For adults :\n\nInclusion Criteria :\n\n* Major patient\n* Patient with a rare autoinflammatory disease\n* Patient who has given his or her consent to participate in research\n\nExclusion Criteria :\n\n* Patient under legal protection or safeguard of justice or any other protective measure (guardianship, curatorship)\n* Patient with known infection with hepatitis B or C virus or human immunodeficiency virus (HIV)\n\nFor Kids :\n\nInclusion Criteria :\n\n* Minor patients (between 4 and 17 years of age)\n* Patient with a rare autoinflammatory disease.\n* No additional genetic research will be carried out as part of the project.\n* Parents\u002Flegal guardians of the child who have given their non-objection to participate in the research.\n\nExclusion Criteria :\n\n* Patient under legal protection or safeguard of justice or any other protective measure (guardianship, curators)\n* Patient with known infection with hepatitis B or C virus or human immunodeficiency virus (HIV)","4 Years",{"count":90,"type":21},60,"Auto-inflammatory diseases are part of a heterogeneous group of illnesses manifested by an inflammatory reaction in its initial phase (innate immunity) that is activated inappropriately: either because the reaction is too strong, or because it is not justified (e.g. in the absence of infection).\n\nAutoinflammatory diseases are often initially described as genetic in origin (i.e. hereditary or familial), and preferentially affect children or young adults. However, the preponderance of auto-inflammation as a cause of symptoms has led to the development of a number of other diseases. In some cases, autoinflammatory diseases may also remain \"unclassified\".\n\nGenerally speaking, autoinflammatory diseases manifest as recurrent attacks of fever, rash and joint pain. Certain signs are more specific to certain diseases, such as urticaria, abdominal pain, mouth ulcers or cervical lymph nodes... It is above all the repetition of the attacks and their unprovoked nature that attract the attention of the patient and the doctor. These attacks are systematically associated with an increase in inflammation markers in the blood.\n\nAt present, not all inflammation pathways have been identified. With this study, investigator aim to characterize rare autoinflammatory disease variants and develop relevant cellular models to study inflammation pathways.",[25],"NOT_YET_RECRUITING","2025-09-12",{"date":96,"type":38},"2025-09-18",{"date":98,"type":21},"2025-10-15",{"date":100,"type":21},"2029-10-15",{"name":78,"class":79},{"id":103,"slug":104,"hasResults":11,"nctId":105,"briefTitle":106,"officialTitle":107,"acronym":108,"eligibilityCriteria":109,"healthyVolunteers":11,"sex":16,"minAge":110,"maxAge":111,"enrollmentInfo":112,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":114,"conditions":115,"keywords":117,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":122,"lastUpdatePostDateStruct":123,"startDateStruct":125,"completionDateStruct":126,"leadSponsor":128,"locationsCount":44},"100543319","unclassified-genotypes-of-autoinflammatory-diseases-and-aa-amyloidosis-100543319","NCT06354322","Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis","Physiopathological Investigation of Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis","IPHYGENI MAI","Inclusion Criteria:\n\nInclusion criteria for patients to be studied:\n\n* Patients over 18 years of age with the capacity to give express free and informed consent and;\n* Minor patients under 18 years of age with both parents or legal guardians giving consent;\n* Patients with unclassified IAD or AA amyloidosis of undetermined etiology;\n* Patients followed in one of the study departments;\n* Patients weighing more than 15 kg.\n\nInclusion criteria for control patients:\n\n* Patients over 18 years of age with the capacity to give free and informed express consent;\n* Patients with IAD classified with well-defined international criteria or ;\n* Patients who have undergone cosmetic surgery or blood donors).\n\nExclusion Criteria:\n\n* Patients unable to give express free and informed consent;\n* Subjects under guardianship, curatorship or safeguard of justice;\n* Subjects who do not speak French;\n* Subjects unable to answer questions or express themselves;\n* Patients weighing less than 15 kg;\n* Patients without social security coverage","3 Years","80 Years",{"count":113,"type":21},200,"Patients with autoinflammatory diseases (AID) have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks. A complication of autoinflammatory diseases is AA amyloidosis, which can lead to renal failure and dialysis. Advances in genetic analysis have led to the identification of new autoinflammatory diseases and thus new pathophysiological pathways.\n\nHowever, genetic analyses are sometimes confronted with results that are difficult to interpret. These are the Variants of Unknown Significance, for which genetic analysis alone does not allow to determine if the genetic mutation is responsible for the symptoms.\n\ngenetic analysis sometimes has limitations in the diagnosis of AID which can only be overcome by pathophysiological studies of the variants found.",[116,25],"AA Amyloidosis",[118,119,120,121],"Autoinflammatory disease","AA amylosis","Functional explorations","Unclassified genotypes","2025-08-29",{"date":124,"type":38},"2025-09-02",{"date":74,"type":38},{"date":127,"type":21},"2039-02",{"name":129,"class":79},"Assistance Publique - Hôpitaux de Paris",{"id":131,"slug":132,"hasResults":11,"nctId":133,"briefTitle":134,"officialTitle":135,"acronym":136,"eligibilityCriteria":137,"healthyVolunteers":53,"sex":16,"minAge":138,"maxAge":4,"enrollmentInfo":139,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":141,"conditions":142,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":155,"lastUpdatePostDateStruct":156,"startDateStruct":157,"completionDateStruct":159,"leadSponsor":161,"locationsCount":44},"100604475","clinical-assessment-for-rheumatologic-disease---research-and-advancement-in-safety-and-efficacy-100604475","NCT07150000","Clinical Assessment for Rheumatologic Disease - Research and Advancement in Safety and Efficacy","CARe RAiSE Study - Clinical Assessment for Rheumatologic Disease - Research and Advancement in Safety and Efficacy","CARe RAiSE","Inclusion Criteria:\n\n* Participants aged ≥ 18 years\n* Signed written informed consent to participate voluntarily in the study.\n* Confirmed diagnosis (by the treating physician) of one of the following autoimmune or autoinflammatory rheumatic diseases:\n* Rheumatoid arthritis (RA)\n* Psoriatic arthritis (PsA)\n* Axial spondyloarthritis (axSpA)\n* Giant cell arteritis (GCA)\n* Connective tissue diseases, including:\n\n  1. Systemic lupus erythematosus (SLE)\n  2. Systemic sclerosis (SSc)\n  3. Mixed connective tissue disease (MCTD)\n  4. Idiopathic inflammatory myopathies (IIM)\n* ANCA-associated vasculitides (AAV), including:\n\n  1. Microscopic polyangiitis (MPA)\n  2. Granulomatosis with polyangiitis (GPA)\n  3. Eosinophilic granulomatosis with polyangiitis (EGPA)\n* Autoinflammatory diseases, including\n\n  1. Familial Mediterranean fever (FMF)\n  2. Cryopyrin-associated periodic syndromes (CAPS)\n  3. TNF receptor-associated periodic syndrome (TRAPS)\n  4. Adult-onset Still's disease (AOSD)\n\n     Exclusion Criteria:\n* Refusal to participate in the study or inability to provide informed consent.\n\nInclusion Criteria - Healthy Control Group:\n\n* Participants aged ≥ 18 years (capable of providing informed consent).\n* Signed written informed consent to participate voluntarily in the study.\n\nExclusion Criteria - Healthy Control Group:\n\n\\- Presence of a known or active rheumatologic disease.","18 Years",{"count":140,"type":21},120,"The CARe RAiSE project represents a pioneering translational initiative aimed at advancing precision medicine in the treatment of autoimmune rheumatic diseases. The primary objective is the development and implementation of an innovative cell-based ex vivo assay that enables individualized prediction of therapeutic response to disease-modifying antirheumatic drugs (DMARDs). By identifying the most effective treatment option for each patient, this approach seeks to enhance therapeutic efficacy, reduce time to clinical response, and minimize healthcare costs.\n\nDespite the availability of numerous DMARDs, clinical decision-making remains largely empirical due to considerable interindividual variability in treatment response. This frequently results in a prolonged trial-and-error process, placing a significant burden on patients and the healthcare system. CARe RAiSE aims to overcome this limitation by providing a functional diagnostic tool that can predict a patient's immunological response to specific DMARDs prior to treatment initiation.\n\nThe assay is based on peripheral blood mononuclear cells (PBMCs) obtained from individual patients, enabling a physiologically relevant assessment of immune responsiveness to targeted therapies. Combining high-content imaging with homogeneous well-based cytokine and inflammasome activity assays, the platform allows for a detailed single-cell analysis of inflammatory pathways. These data are used to generate predictive signatures of treatment response, thereby facilitating a mechanistically informed and personalized therapeutic strategy.\n\nThrough this approach, CARe RAiSE introduces a scientifically grounded, efficient, and patient-specific method for DMARD selection, with the potential to substantially improve patient outcomes and reduce the socioeconomic impact of autoimmune rheumatic diseases.",[143,144,145,146,147,148,149,150,151,152,153,25,154],"Rheumatic Diseases","Rheumatoid Arthritis (RA)","Giant Cell Arteritis (GCA)","Psoriatic Arthritis (PsA)","Axial Spondylarthritis (axSpA)","Polymyalgia Rheumatica (PMR)","ANCA Associated Vasculitis (AAV)","Connective Tissue Disease (CTD)","Systemic Sclerosis (SSc)","Systemic Lupus Erthematosus (SLE)","Idiopathic Inflammatory Myopathy (IIM)","Gout Arthritis","2025-08-24",{"date":124,"type":38},{"date":158,"type":38},"2025-04-01",{"date":160,"type":21},"2028-12",{"name":162,"class":79},"University of Bonn",{"id":164,"slug":165,"hasResults":11,"nctId":166,"briefTitle":167,"officialTitle":167,"acronym":168,"eligibilityCriteria":169,"healthyVolunteers":11,"sex":16,"minAge":138,"maxAge":170,"enrollmentInfo":171,"targetDuration":173,"studyType":22,"phases":4,"briefSummary":174,"conditions":175,"keywords":4,"overallStatus":93,"whyStopped":4,"lastUpdateSubmitDate":177,"lastUpdatePostDateStruct":178,"startDateStruct":180,"completionDateStruct":182,"leadSponsor":184,"locationsCount":4},"100602640","clinical-autoinflammatory-disease-cohort-100602640","NCT07126145","Clinical Autoinflammatory Disease Cohort","CAID","Inclusion Criteria:\n\n* Diagnosis of adult-onset Still's disease (AOSD) according to the Yamaguchi criteria (as described above) or other established autoinflammatory disease diagnostic criteria.\n* Age between 18 and 75 years, inclusive.\n* Willingness and ability to comply with scheduled follow-up visits, examinations, and treatments.\n* Voluntary provision of written informed consent.\n\nExclusion Criteria:\n\n* Refusal or inability to provide informed consent; age under 18 or over 75 years; inability to provide at least 80% of the required core data for Still's disease or other autoinflammatory diseases.\n* Presence of other connective tissue diseases.\n* Positive detection of autoantibodies.\n* Current acute infection or history of active tuberculosis.\n* History of allergic constitution or multiple drug allergies.\n* Psychiatric disorders or other conditions preventing compliance with examinations, follow-up, or treatment.\n* Women who are currently pregnant or planning to become pregnant.\n* Presence of malignant tumors.\n* Participation in other clinical trials currently or within a specified washout period.","75 Years",{"count":172,"type":21},1000,"12 Months","Autoinflammatory diseases (AIDs) are a group of rare disorders caused by dysregulation of the innate immune system, characterized by recurrent fever, systemic inflammation, and involvement of specific organs. Diagnosis relies on a combination of clinical features, laboratory tests, genetic findings, and response to treatment. Still's disease is a representative type of AID, marked by high spiking fevers, polyarthritis, evanescent rash, and markedly elevated inflammatory markers. Among its complications, macrophage activation syndrome (MAS) is the most life-threatening, affecting approximately 10-15% of patients. MAS involves uncontrolled immune activation and systemic inflammation, and if left untreated, may result in a mortality rate exceeding 50%. This study aims to develop a standardized clinical dataset and diagnostic-treatment framework for AIDs based on their disease characteristics. After establishing a data collection template, eligible patients aged 18-75 years with AIDs will be enrolled. Clinical data will be collected to build a prospective follow-up cohort, focusing particularly on adult-onset Still's disease (AOSD), to explore the clinical features and pathogenesis of AIDs.",[176,25],"Still Disease","2025-08-10",{"date":179,"type":38},"2025-08-17",{"date":181,"type":21},"2025-08",{"date":183,"type":21},"2035-08",{"name":185,"class":79},"RenJi Hospital",{"id":187,"slug":188,"hasResults":11,"nctId":189,"briefTitle":190,"officialTitle":191,"acronym":4,"eligibilityCriteria":192,"healthyVolunteers":53,"sex":16,"minAge":193,"maxAge":4,"enrollmentInfo":194,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":196,"conditions":197,"keywords":201,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":203,"lastUpdatePostDateStruct":204,"startDateStruct":206,"completionDateStruct":208,"leadSponsor":210,"locationsCount":212},"100516425","autoimmune-and-autoinflammatory-genetics-study-100516425","NCT06004349","Autoimmune and Autoinflammatory Genetics Study","Natural History and Genetics of VEXAS Syndrome and Related Autoinflammatory Syndromes","Inclusion Criteria:\n\nIn order to be eligible to participate in this study as a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n* Stated willingness to participate in study procedures (which at the very least includes providing a mail-in blood or saliva sample for genetic analysis);\n* Regardless of sex assigned at birth, at least one month of age;\n* A medical history that, in the expert opinion of the PI and study team, is consistent with the possibility of autoinflammatory disease or known diagnosis of an autoinflammatory disease, such as VEXAS syndrome; and\n* Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a family member of a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n* Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);\n* Regardless of sex assigned at birth, at least one month of age;\n* Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;\n* Likelihood, in the expert opinion of the PI and study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative's possible autoinflammatory condition; and\n* Ability of the subject, parents (in the case of children), to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria:\n\n* Stated willingness to participate in study procedures for healthy volunteers;\n* Regardless of sex assigned at birth, at least five years old, and not pregnant (by history of a missed menstrual period);\n* Likelihood, in the expert opinion of the PI that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and\n* Ability of the subject to understand and the willingness to sign a written informed consent document by a capacity assessment provided by the PI and study team.\n\nExclusion Criteria:\n\nFor any of the three categories of subjects, an individual will be excluded from participation in this study for the following reasons:\n\nProbands: an individual will not be enrolled as a proband if the study team has a low suspicion of having an autoinflammatory disease or a genetic cause for an autoinflammatory disease.\n\nFamily Members: an individual will not be enrolled as a family member if the study team believes they may have an autoinflammatory disease, in which case, they will be enrolled as a proband.\n\nHealthy controls: an individual will not be enrolled as a healthy control if they have an autoinflammatory disease, or any condition that may mimic an autoinflammatory disease, such as hematologic malignancy, rheumatologic disease.","1 Month",{"count":195,"type":21},1500,"This is an exploratory natural history protocol that will enroll patients with known genetic diseases, such as VEXAS syndrome, or as yet undiagnosed disorders of inflammation with the goal of improving our understanding of disease processes. Blood, saliva, hair, nail, or buccal samples may be collected for genetic analysis, blood samples will be obtained for immunologic and other functional studies, and a small number of subjects may undergo skin biopsy.",[198,25,199,200],"VEXAS Syndome","Autoimmune Disease","Rheumatic Disease",[202],"VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)","2025-07-08",{"date":205,"type":38},"2025-07-09",{"date":207,"type":38},"2022-04-15",{"date":209,"type":21},"2032-04-05",{"name":211,"class":79},"NYU Langone Health",2,{"id":214,"slug":215,"hasResults":11,"nctId":216,"briefTitle":217,"officialTitle":217,"acronym":218,"eligibilityCriteria":219,"healthyVolunteers":11,"sex":16,"minAge":138,"maxAge":4,"enrollmentInfo":220,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":222,"conditions":223,"keywords":225,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":227,"lastUpdatePostDateStruct":228,"startDateStruct":230,"completionDateStruct":232,"leadSponsor":234,"locationsCount":44},"100468711","biomarkers-in-autoimmune-diseases-vasculitis-and-auto-inflammatory-diseases-100468711","NCT05383339","Biomarkers in Autoimmune Diseases, Vasculitis and Auto Inflammatory Diseases","BIOMAI","Inclusion Criteria:\n\n* Patients of 18 years of age or older\n* Patients with autoimmune systemic disease, systemic vasculitis or autoinflammatory disease, defined by the international criteria in force for each pathology, among the following:\n\n  * Connectivities: lupus, Sjögren syndrome, antiphospholipid syndrome, mixed connectivity and Sharp syndrome, scleroderma, myositis\n  * Vasculitis of large, small and medium vessels: giant cell arteritis, Takayasu arteritis, Behçet disease, ANCA vasculitis, cryoglobulinemic vasculitis, IgA vasculitis (rheumatoid purpura)\n  * Buerger's disease (obliterating thromboangitis)\n  * Granulomatosis and sarcoidosis\n  * Uveitis\n  * Monogenic and polygenic autoinflammatory diseases: family Mediterranean fever, TRAPS, CAPS, chronic atrophic polychondritis, pericarditis\n  * Recurrent fevers and unexplained inflammatory syndromes\n  * Inflammatory amyloidosis\n* Patients affiliated to French social security\n\nExclusion Criteria:\n\n* Vulnerable populations:\n\n  * Persons deprived of liberty by judicial or administrative decision;\n  * Persons receiving psychiatric care without their consent;\n  * Adult subject to a legal protection measure (guardianship, curatorship);\n  * Persons unable to give their consent.",{"count":221,"type":21},2250,"The objective of this work is to identify, in patients with autoimmune diseases, systemic vasculitis and autoinflammatory disease, cytokine and lymphocyte biomarkers of activity of these diseases to identify follow-up biomarkers, in order to personalize the follow-up and the treatments for each patient.\n\nImmunological data will be obtained from biological samples collected as part of the usual patient care pathway (Blood and tissues sampling) The study will take place in the Department of Internal Medicine and Clinical Immunology (DMIIC), that is certified as the National Reference Centre for Rare Systemic Autoimmune Diseases and the National Reference Centre for Inflammatory Autoinflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA). Its objective is to contribute to the advancement of fundamental knowledge in immunology, in particular to develop prognostic biomarkers of the activity of autoimmune diseases, systemic vasculitis and autoinflammatory diseases by using blood tests.",[63,224,25],"Vasculitis",[63,224,25,226],"disease activity biomarkers cytokine and lymphocyte profile","2025-06-30",{"date":229,"type":38},"2025-07-03",{"date":231,"type":38},"2022-11-29",{"date":233,"type":21},"2031-11-29",{"name":129,"class":79},{"id":236,"slug":237,"hasResults":11,"nctId":238,"briefTitle":239,"officialTitle":239,"acronym":240,"eligibilityCriteria":241,"healthyVolunteers":53,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":242,"targetDuration":4,"studyType":57,"phases":244,"briefSummary":245,"conditions":246,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":247,"lastUpdatePostDateStruct":248,"startDateStruct":250,"completionDateStruct":252,"leadSponsor":254,"locationsCount":256},"100490759","flemish-joint-effort-for-biomarker-profiling-in-inflammatory-systemic-diseases-100490759","NCT05670301","Flemish Joint Effort for Biomarker PRofiling in Inflammatory Systemic Diseases","FEBRIS","Inclusion Criteria:\n\nAn individual who meets any of the following criteria can be eligible for participation in this study:\n\n1. Child or adult\n2. Written informed consent\n3. Suspected or confirmed disease with systemic inflammation (acute, chronic and\u002For recurrent), these include:\n\n   1. Autoinflammatory diseases (AID), including among others: systemic onset juvenile idiopathic arthritis (sJIA), familial mediterranean fever (FMF), mevalonate kinase deficiency (Hyper IgD syndrome), TNF receptor-associated periodic syndrome (TRAPS), familial Cold Autoinflammatory Syndrome (CAPS), type 1 interferonopathies,…\n   2. Autoimmune diseases (AI), including among others: systemic lupus erythematosus (SLE), juvenile dermatomyositis (JDM), rheumatoid arthritis (RA),…\n   3. Hyperinflammatory diseases, including among others: hemophagocytic lymphohistiocytosis (HLH), macrophage activation syndrome (MAS), infection-related cytokine storm (e.g. in the setting of COVID-19)\n   4. Other unidentified or not yet identified systemic inflammatory conditions\n4. Blood sample for diagnostic purposes is planned and possibility to acquire additional blood volume\n\nExclusion Criteria:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Confirmed localized infection and\u002For good response to first-line antibiotic treatment\n2. Confirmed malignancy\n\nBesides the above mentioned patients, volunteers that meet the requirements as a healthy individual are eligible for inclusion as controls.",{"count":243,"type":21},2500,[59],"A multi-centre, prospective study to study cytokine profiles and other potential disease-specific biomarkers in patients with presumed or confirmed diseases of systemic inflammation\n\nThe goal of this prospective, observational study is to describe the longitudinal evolution of blood cytokine profiles in patients with presumed or confirmed diseases of systemic inflammation\n\nThe main questions it aims to answer are:\n\n* What are the differences and similarities in blood cytokines between different patients and groups presenting symptoms of systemic inflammatory conditions?\n* How is the cytokine profile of individual patients evolving over time and what is the effect of different therapeutics?\n* Is cytokine profiling a valuable tool to diagnose and follow-up on patients with systemic inflammatory conditions?\n\nParticipants will be asked to give an additional blood volume for research purposes when blood sampling is performed for routine clinical purposes. A subset of patients (those initiated on biologicals) will also be asked to complete questionnaires.\n\nResearchers will compare the blood cytokines profiles between the different groups of systemic inflammatory conditions and with healthy individuals.",[25,63,32],"2024-09-05",{"date":249,"type":38},"2024-09-19",{"date":251,"type":38},"2022-09-28",{"date":253,"type":21},"2029-12-31",{"name":255,"class":79},"University Hospital, Ghent",7,{"id":258,"slug":259,"hasResults":11,"nctId":260,"briefTitle":261,"officialTitle":261,"acronym":262,"eligibilityCriteria":263,"healthyVolunteers":11,"sex":16,"minAge":138,"maxAge":4,"enrollmentInfo":264,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":266,"conditions":267,"keywords":273,"overallStatus":93,"whyStopped":4,"lastUpdateSubmitDate":276,"lastUpdatePostDateStruct":277,"startDateStruct":279,"completionDateStruct":281,"leadSponsor":283,"locationsCount":44},"100461754","are-mast-cells-involved-in-autoinflammatory-diseases-100461754","NCT05292768","Are Mast Cells Involved in Autoinflammatory Diseases","INFLAMAST","Inclusion Criteria:\n\n* Patients \\>18 years old with Auto-inflammatory diseases already followed up at the CeRéMAIA (french national reference center for autoinflamamtory diseases and AA amyloidosis) of Tenon hospital and included in the JIRcohorte\n* Healthy adult controls, age- and sex-matched with MAI patients, and controls with mastocytosis, an immuno-inflammatory disease.\n* Subject affiliated to or entitled to a social security scheme\n* Collection of the patient's or healthy control's non-opposition\n\nExclusion Criteria:\n\n* Subjects unable to answer questions or express themselves\n* Subjects who do not speak French\n* Subject deprived of liberty or under legal protection.",{"count":265,"type":21},590,"Autoinflammatory diseases (AID) are caused by innate immunity dysregulation. AID pathophysiology is only partly understood, especially in the case of unclassified AID. Mast cells (MC) are innate immune cells associated with a spectrum of disease between systemic mastocytosis and mast cell activation syndrome. The implication of MC has been shown in cryopyrin associated periodic syndrome (CAPS).Our aim is to evaluate the involvement of MC in AID by assessing clinical and biological signs of MC activation and studying cutaneous and digestive biopsies.",[25,268,269,270,271,272],"FMF","TRAPS","MKD","Cryopyrin Associated Periodic Syndrome","Haploinsufficiency",[118,274,275],"Mast cells","Mast cell activation syndrome","2022-03-22",{"date":278,"type":38},"2022-03-23",{"date":280,"type":21},"2022-03",{"date":282,"type":21},"2026-10",{"name":129,"class":79}]