[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100569575":3},{"organization":4,"armGroups":7,"interventions":67,"overallOfficials":10,"centralContacts":93,"locations":103,"responsibleParty":128,"collaborators":10,"id":132,"slug":133,"hasResults":134,"nctId":135,"briefTitle":136,"officialTitle":137,"acronym":138,"eligibilityCriteria":139,"healthyVolunteers":140,"sex":141,"minAge":142,"maxAge":10,"enrollmentInfo":143,"targetDuration":10,"studyType":146,"phases":10,"briefSummary":147,"conditions":148,"keywords":155,"overallStatus":106,"whyStopped":10,"lastUpdateSubmitDate":165,"lastUpdatePostDateStruct":166,"startDateStruct":169,"completionDateStruct":171,"leadSponsor":173,"locationsCount":174},{"fullName":5,"class":6},"University of Bonn","OTHER",[8,18,22,27,31,35,39,43,47,51,55,59,63],{"label":9,"type":10,"description":11,"interventionNames":12},"Giant Cell Arteritis (GCA)",null,"Patients with GCA (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17],"Diagnostic Test: Single nucleotide polymorphisms (SNP)","Diagnostic Test: 3'mRNA sequencing","Diagnostic Test: Enzyme-linked immunosorbent assay (ELISA) and Legendplex Array","Diagnostic Test: Flow Cytometry","Diagnostic Test: Laboratory assessment",{"label":19,"type":10,"description":20,"interventionNames":21},"Polymyalgia Rheumatica (PMR)","Patients with PMR (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17],{"label":23,"type":10,"description":24,"interventionNames":25},"ANCA Associated Vasculitis (AAV)","Patients with AAV (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17,26],"Diagnostic Test: Assessment of Pulmonary Involvement",{"label":28,"type":10,"description":29,"interventionNames":30},"IgG4 Related Diseases","Patients with IgG4 Related Diseases (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17],{"label":32,"type":10,"description":33,"interventionNames":34},"Idiopathic Inflammatory Myopathies (IIM)","Patients with IIM (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17,26],{"label":36,"type":10,"description":37,"interventionNames":38},"Rheumatoid Arthritis (RA)","Patients with RA (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17,26],{"label":40,"type":10,"description":41,"interventionNames":42},"Psoriatic Arthritis (PsA)","Patients with PsA (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17,26],{"label":44,"type":10,"description":45,"interventionNames":46},"Connective Tissue Diseases (CTD)","Patients with CTD (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17,26],{"label":48,"type":10,"description":49,"interventionNames":50},"Sarcoidosis","Patients with sarcoidosis (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17,26],{"label":52,"type":10,"description":53,"interventionNames":54},"Interstitial Lung Diseases (ILD)","Patients with ILD (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17,26],{"label":56,"type":10,"description":57,"interventionNames":58},"Chronic Obstructive Pulmonary Disease (COPD)","Patients with COPD (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17,26],{"label":60,"type":10,"description":61,"interventionNames":62},"Asthma Bronchiale","Patients with asthma bronchiale (cross sectional, newly diagnosed with follow-up after twelve months).",[13,14,15,16,17,26],{"label":64,"type":10,"description":65,"interventionNames":66},"Healthy Control Group","Age-\u002F gender matched healthy controls",[13,14,15,16,17,26],[68,73,77,81,85,89],{"type":69,"name":70,"description":71,"armGroupLabels":72,"otherNames":10},"DIAGNOSTIC_TEST","Single nucleotide polymorphisms (SNP)","Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.",[23,60,56,44,9,64,32,28,52,19,40,36,48],{"type":69,"name":74,"description":75,"armGroupLabels":76,"otherNames":10},"3'mRNA sequencing","3'mRNA sequencing analyzes gene expression profiles related to the immune response in different study cohorts, aiding in understanding the genetic underpinnings of inflammation and its association with mLOY.",[23,60,56,44,9,64,32,28,52,19,40,36,48],{"type":69,"name":78,"description":79,"armGroupLabels":80,"otherNames":10},"Enzyme-linked immunosorbent assay (ELISA) and Legendplex Array","Used to measure cytokine levels in the serum of investigated patients, aiding in profiling inflammatory markers that are indicative of disease activity, response to treatment and consequence of mLOY..",[23,60,56,44,9,64,32,28,52,19,40,36,48],{"type":69,"name":82,"description":83,"armGroupLabels":84,"otherNames":10},"Flow Cytometry","Employed to analyze immune cell phenotypes in investigated cohorts. This test helps identify various immune cell subsets and their activation states, which are critical for understanding disease mechanisms and its association with mLOY.",[23,60,56,44,9,64,32,28,52,19,40,36,48],{"type":69,"name":86,"description":87,"armGroupLabels":88,"otherNames":10},"Laboratory assessment","Serum Chemistry",[23,60,56,44,9,64,32,28,52,19,40,36,48],{"type":69,"name":90,"description":91,"armGroupLabels":92,"otherNames":10},"Assessment of Pulmonary Involvement","Results of routine clinical assessment of pulmonary involvement (such as lung ultrasound, computed tomography, chest x-ray, whole-body plethysmography) will be compared to mLOY, ELISA\u002F Legendplex\u002F flow cytometry\u002F transcriptome analysis results.",[23,60,56,44,64,32,52,40,36,48],[94,99],{"name":95,"role":96,"phone":97,"phoneExt":10,"email":98},"Simon Michael Petzinna, MD","CONTACT","0049 151 382 337 07","Simon_Michael.Petzinna@ukbonn.de",{"name":100,"role":96,"phone":101,"phoneExt":10,"email":102},"Valentin Sebastian Schäfer, MD","0049 228 287 17000","valentin.schaefer@ukbonn.de",[104],{"facility":105,"status":106,"city":107,"state":108,"zip":109,"country":110,"countryCode":111,"cosmosGeoPoint":112,"geoPoint":117,"contacts":118},"Department of Rheumatology","RECRUITING","Bonn","North Rhine-Westphalia","53127","Germany","DE",{"type":113,"coordinates":114},"Point",[115,116],7.09549,50.73438,{"lat":116,"lon":115},[119,120,122,124,126],{"name":100,"role":96,"phone":101,"phoneExt":10,"email":102},{"name":100,"role":121,"phone":10,"phoneExt":10,"email":10},"PRINCIPAL_INVESTIGATOR",{"name":95,"role":123,"phone":10,"phoneExt":10,"email":10},"SUB_INVESTIGATOR",{"name":125,"role":123,"phone":10,"phoneExt":10,"email":10},"Raul Nicolas Jamin, MD",{"name":127,"role":123,"phone":10,"phoneExt":10,"email":10},"Sebastian Zimmer, MD",{"type":121,"investigatorFullName":129,"investigatorTitle":130,"investigatorAffiliation":131,"oldNameTitle":10,"oldOrganization":10},"Valentin Schäfer","Principal Investigator","University Hospital, Bonn","100569575","aylo---autoimmunity-and-loss-of-y-100569575",false,"NCT06696027","AYLo - AutoimmunitY and Loss of y","Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases","AYLo","Inclusion Criteria:\n\n* Male\n* \\> 50 years\n* Diagnosis of arthritis (RA, PsA), collagen diseases (SLE, systemic sclerosis, Sjögren's syndrome, mixed connective tissue diseases), vasculitis (eGPA, GPA, MPA, IgG4-related disease, GCA, PMR), sarcoidosis, COPD, ILD or asthma bronchiale confirmed by the treating physician.\n\nExclusion Criteria:\n\n* Female\n* \\\u003C 50 years\n\nInclusion Criteria (Healthy controls):\n\n* Male\n* \\> 50 years\n\nExclusion Criteria (Healthy controls):\n\n* Female\n* \\\u003C 50 years\n* autoimmune, rheumatological diease\n* pulmonary precondition",true,"MALE","50 Years",{"count":144,"type":145},500,"ESTIMATED","OBSERVATIONAL","The AYLo study (AutoimmunitY and Loss of y - Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases) aims to systematically investigate hematopoietic mutations, such as hematopoietic (mosaic) loss of the Y chromosome (mLOY), focusing on their underlying causes, pathophysiological significance, patterns of manifestation, and impact on disease progression in autoimmune, rheumatologic disorders. This research seeks to bridge existing knowledge gaps by exploring how such mutations influence immune homeostasis, cellular function, and susceptibility to inflammation-driven pathologies.\n\nThrough the integration of advanced immunological profiling, the study aspires to uncover key mechanisms that drive the initiation, progression, and complications of autoimmune rheumatic diseases. These analyses will combine single nucleotide polymorphisms (SNP) arrays, multiplex assays, transcriptomics, and flow cytometry staining of peripheral blood mononuclear cells to delineate the interplay between hematopoietic mutations and immune dysregulation.\n\nA further objective is the development of a multimodal framework for disease-specific characterization, enabling precise mapping of mutation-driven phenotypes across diverse autoimmune conditions. This framework will incorporate clinical, molecular, and imaging data.\n\nAdditionally, the AYLo study aims to explore the potential role of mLOY and other hematopoietic mutations as biomarkers for disease stratification, prognosis, and therapeutic response. The findings may open avenues for personalized treatment approaches, leveraging the molecular insights to inform targeted interventions and improve patient outcomes in autoimmune rheumatic disorders.\n\nBy integrating translational and basic science approaches, this study has the potential to redefine current paradigms in autoimmune disease research and therapy.",[9,19,23,149,150,36,40,151,48,152,153,60,154],"Idiopathic Inflammatory Myopathies","IgG4-Related Diseases","Connective Tissue Disease","Interstitial Lung Disease Due to Systemic Disease (Disorder)","Interstitial Lung Disease (ILD)","COPD",[156,157,158,159,160,161,149,150,162,163,151,48,164],"Autoimmune Diseases","Vasculitis","Large Vessel Vasculitis","Giant Cell Arteritis","Polymyalgia Rheumatica","ANCA Associated Vasculitis","Rheumatoid Arthritis","Psoriatic Arthritis","Interstitial Lung Disease","2025-04-07",{"date":167,"type":168},"2025-04-10","ACTUAL",{"date":170,"type":168},"2024-11-15",{"date":172,"type":145},"2026-07",{"name":5,"class":6},1]