An observational study in Giant Cell Arteritis (GCA), Polymyalgia Rheumatica (PMR) and ANCA Associated Vasculitis (AAV), sponsored by University of Bonn. Recruiting at 1 site in Germany. Open to male participants aged 50 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-04-10.
Sponsored by University of Bonn · 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.
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.
147 studies on the registry are indexed under Giant Cell Arteritis; 49 are open to participants now.
This study's planned enrollment of 500 is above the median of 128 across 78 observational studies indexed under Giant Cell Arteritis.
Browse Giant Cell Arteritis studies →University of Bonn is the lead sponsor of 39 studies on the registry; 20 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The study population includes male participants aged 50 years or older, divided into two groups: individuals with specific medical conditions (cases) and healthy controls.
Participants must have a diagnosis confirmed by the treating physician of one or more of the following conditions:
Arthritis (RA, PsA), CTD (e.g., systemic lupus erythematosus [SLE], systemic sclerosis, Sjögren's syndrome, mixed connective tissue diseases), vasculitis ( eosinophilic granulomatosis with polyangiitis [eGPA], granulomatosis with polyangiitis [GPA], microscopic polyangiitis [MPA], IgG4-related disease, GCA + PMR), sarcoidosis, COPD, ILD, asthma bronchial
Healthy Controls: Healthy male participants aged 50 years or older without any of the following conditions:
Autoimmune or rheumatological diseases Pulmonary preconditions
For both groups, females and individuals younger than 50 years are excluded.
Inclusion Criteria:
Exclusion Criteria:
Inclusion Criteria (Healthy controls):
Exclusion Criteria (Healthy controls):
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Chronic obstructive pulmonary disease: long-term lung disease that makes it hard to breathe out, including emphysema and chronic bronchitis.
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
COPD
Chronic obstructive pulmonary disease: long-term lung disease that makes it hard to breathe out, including emphysema and chronic bronchitis.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Autoimmune disease
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients with GCA (cross sectional, newly diagnosed with follow-up after twelve months).
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
Patients with PMR (cross sectional, newly diagnosed with follow-up after twelve months).
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
Patients with AAV (cross sectional, newly diagnosed with follow-up after twelve months).
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Patients with IgG4 Related Diseases (cross sectional, newly diagnosed with follow-up after twelve months).
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
Patients with IIM (cross sectional, newly diagnosed with follow-up after twelve months).
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Patients with RA (cross sectional, newly diagnosed with follow-up after twelve months).
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Patients with PsA (cross sectional, newly diagnosed with follow-up after twelve months).
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Patients with CTD (cross sectional, newly diagnosed with follow-up after twelve months).
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Patients with sarcoidosis (cross sectional, newly diagnosed with follow-up after twelve months).
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Patients with ILD (cross sectional, newly diagnosed with follow-up after twelve months).
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Patients with COPD (cross sectional, newly diagnosed with follow-up after twelve months).
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Patients with asthma bronchiale (cross sectional, newly diagnosed with follow-up after twelve months).
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Age-/ gender matched healthy controls
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 · Diagnostic Test: Assessment of Pulmonary Involvement
Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.
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.
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..
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.
Serum Chemistry
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.
Quantification of the fraction of hematopoietic cells exhibiting mLOY.
Detection and quantification of the fraction of hematopoietic cells exhibiting mLOY in peripheral blood using SNP. Unit of Measure: Percentage (%).
Time frame: Cross sectional. Newly diagnosed patients: At baseline and 12 months after diagnosis).
Changes in Immune Cell Phenotype
Identification and quantification of immune cell subtypes, using flow cytometry. Unit of Measure: Changes in levels (percentages).
Time frame: Cross sectional. Newly diagnosed patients: At baseline and 12 months after diagnosis
Changes in Cytokine Profiles
Identification and quantification of cytokines using 3'-mRNA transcriptome analysis and ELISA/ Legendplex. Unit of Measure: Changes in levels (pg/mL)
Time frame: Cross sectional. Newly diagnosed patients: At baseline and 12 months after diagnosis
Number of Participants with Detected Pulmonary Involvement
Detection of structural anomalies in the lung in clinical routine assessment using lung ultrasound, computed tomography, chest radiography and whole-body plethysmography. Unit of Measure: Number of participants.
Time frame: Cross sectional. Newly diagnosed patients: At baseline and 12 months after diagnosis
Plan to share: Yes — Data are available upon reasonable request from the corresponding author.
No publications or documents are linked to this record.
Started Nov 2024 (actual). Primary completion is estimated for Dec 2025, 13 months after the start.
Of 44 observational studies under Giant Cell Arteritis, half reached primary completion within 45 months of starting (the median), counting those still running; a quarter within 33 and three quarters within 164. This study's planned 13 months is below that.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
University of Bonn