Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
500 participants
OBSERVATIONAL
2024-11-15
2026-07-31
Brief Summary
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Through 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.
A 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.
Additionally, 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.
By integrating translational and basic science approaches, this study has the potential to redefine current paradigms in autoimmune disease research and therapy.
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Detailed Description
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Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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Giant Cell Arteritis (GCA)
Patients with GCA (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
Polymyalgia Rheumatica (PMR)
Patients with PMR (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
ANCA Associated Vasculitis (AAV)
Patients with AAV (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
IgG4 Related Diseases
Patients with IgG4 Related Diseases (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
Idiopathic Inflammatory Myopathies (IIM)
Patients with IIM (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Rheumatoid Arthritis (RA)
Patients with RA (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Psoriatic Arthritis (PsA)
Patients with PsA (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Connective Tissue Diseases (CTD)
Patients with CTD (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Sarcoidosis
Patients with sarcoidosis (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Interstitial Lung Diseases (ILD)
Patients with ILD (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Chronic Obstructive Pulmonary Disease (COPD)
Patients with COPD (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Asthma Bronchiale
Patients with asthma bronchiale (cross sectional, newly diagnosed with follow-up after twelve months).
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Healthy Control Group
Age-/ gender matched healthy controls
Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Interventions
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Single nucleotide polymorphisms (SNP)
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Laboratory assessment
Serum Chemistry
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/ Legendplex/ flow cytometry/ transcriptome analysis results.
Eligibility Criteria
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Inclusion Criteria
* \> 50 years
* 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.
* Male
* \> 50 years
Exclusion Criteria
* \< 50 years
* Female
* \< 50 years
* autoimmune, rheumatological diease
* pulmonary precondition
50 Years
MALE
Yes
Sponsors
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University of Bonn
OTHER
Responsible Party
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Valentin Schäfer
Principal Investigator
Locations
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Department of Rheumatology
Bonn, North Rhine-Westphalia, Germany
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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2024-471-BO
Identifier Type: -
Identifier Source: org_study_id
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