ClinicalTrials.gov record NCT06696027

AYLo - AutoimmunitY and Loss of y

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

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

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Healthy volunteersAcceptedPeople who do not have the condition being studied who are allowed to take part. Some studies include both people with the condition and healthy volunteers; others may enrol only healthy volunteers.
Age50 years old and older
SexMale
LocationGermany
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

An observational, prospective case-control study that examines hematopoietic mutations—especially mosaic loss of the Y chromosome (mLOY)—in men aged 50 years or older with autoimmune, rheumatologic, or certain pulmonary conditions and in matched healthy male controls. Participants give blood and clinical data for genetic, transcriptomic, immune-cell, and cytokine analyses. Newly diagnosed patients may have a follow-up at about 12 months.

What it is studying. The study is investigating how hematopoietic mutations, particularly mosaic loss of the Y chromosome (mLOY), relate to immune system changes and disease features across many autoimmune, rheumatologic, and some lung conditions. It combines genetic testing, gene-expression profiling, cytokine measurements, and immune-cell analysis to map patterns of mutation, immune dysfunction, and clinical findings.

What the researchers hope to learn. Quantify the fraction of blood cells showing mLOY and relate mLOY to immune cell types, cytokine profiles, and clinical features; develop a multimodal framework to characterize mutation-driven phenotypes across diseases; explore mLOY and other hematopoietic mutations as potential biomarkers for disease stratification, prognosis, and response.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Diagnostic test
  • Single nucleotide polymorphisms (SNP)
  • 3'mRNA sequencing
  • Enzyme-linked immunosorbent assay (ELISA) and Legendplex Array
  • Flow Cytometry
  • Laboratory assessment
  • Assessment of Pulmonary Involvement

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Male
  • > 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.

Exclusion criteria

  • Female
  • < 50 years
  • Inclusion Criteria (Healthy controls):
  • Male
  • > 50 years
  • Exclusion Criteria (Healthy controls):
  • Female
  • < 50 years
  • autoimmune, rheumatological diease
  • pulmonary precondition

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give blood samples for genetic testing (SNP to assess mosaic loss of Y), 3' mRNA sequencing, cytokine measurements (ELISA/Legendplex), and flow-cytometry immune profiling, plus routine laboratory tests. When relevant, clinical assessments of lung involvement (for example lung ultrasound, chest x-ray, CT, or whole-body plethysmography) will be compared with laboratory results. Most participants will be assessed once (cross-sectional); people who are newly diagnosed will have the same tests at baseline and again about 12 months later. Healthy controls undergo the same sample collection and assessments as the patient groups.

How the study is structured. Observational case-control study with prospective data collection. Men 50 years and older with a range of specified autoimmune, rheumatologic, or pulmonary diagnoses are compared with age- and gender-matched healthy male controls. Participants provide blood samples for SNP genotyping, 3' mRNA sequencing, cytokine assays, flow cytometry, and routine laboratory tests; for newly diagnosed patients, the same assessments are repeated about 12 months later. No treatments are assigned by the study.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Germany. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

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Important dates

Study start
Nov 15, 2024
Primary completion
December 2025 (estimated)
Study completion
July 2026 (estimated)
Target enrollment
500 participants (estimated)
Last updated on registry
Apr 10, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University of Bonn
Principal investigator
Valentin Schäfer, Principal Investigator
University Hospital, Bonn

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

  • Department of RheumatologyRecruiting

    Bonn, North Rhine-Westphalia, 53127 · Germany

Terms used on this page · explanations by MedicalUpdates.ai

biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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