AYLo - AutoimmunitY and Loss of y

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

• Ages 50 years and older
• Men only
• Healthy volunteers accepted
• Adult, Older adult

Study population: The study population includes male participants aged 50 years or older, divided into two groups: individuals with specific medical conditions (cases) and healthy controls. 1. 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 2. Healthy Controls: Healthy male participants aged 50 years or older without any of the following conditions: Autoimmune or rheumatological diseases Pulmonary preconditions 3. Exclusion Criteria: For both groups, females and individuals younger than 50 years are excluded.

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

About this study

Official title: Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases

Conditions

Giant Cell Arteritis (GCA), Polymyalgia Rheumatica (PMR), ANCA Associated Vasculitis (AAV), Idiopathic Inflammatory Myopathies, IgG4-Related Diseases, Rheumatoid Arthritis (RA)

Being tested

Single nucleotide polymorphisms (SNP), 3'mRNA sequencing, Enzyme-linked immunosorbent assay (ELISA) and Legendplex Array, Flow Cytometry, Laboratory assessment

Keywords

Autoimmune Diseases, Vasculitis, Large Vessel Vasculitis, Giant Cell Arteritis, Polymyalgia Rheumatica, ANCA Associated Vasculitis, Idiopathic Inflammatory Myopathies, IgG4-Related Diseases, Rheumatoid Arthritis, Psoriatic Arthritis, Connective Tissue Disease, Sarcoidosis, Interstitial Lung Disease

Medical subject headings

Giant Cell Arteritis, Polymyalgia Rheumatica, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis, Myositis, Immunoglobulin G4-Related Disease, Arthritis, Rheumatoid, Arthritis, Psoriatic, Connective Tissue Diseases

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

• Single nucleotide polymorphisms (SNP)Diagnostic test

  Utilizing single nucleotide polymorphisms (SNP) genotyping mosaic loss of y (mLOY) of individual patient will be assessed.

• 3'mRNA sequencingDiagnostic test

  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 ArrayDiagnostic test

  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 CytometryDiagnostic test

  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 assessmentDiagnostic test

  Serum Chemistry

• Assessment of Pulmonary InvolvementDiagnostic test

  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.

What is being measured

The primary outcome is the main question the study is designed to answer.

1. 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 (%).

   Measured: Cross sectional. Newly diagnosed patients: At baseline and 12 months after diagnosis).

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

1. First posted19 Nov 2024
2. Study start15 Nov 2024
3. Primary completionDec 2025 (estimated)
4. Study completionJul 2026 (estimated)

Resources

• Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
• Other trials for Giant Cell Arteritis (GCA)Studies of the same condition, open and under way.
• What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.