Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- Quantification of the fraction of hematopoietic cells exhibiting mLOY.
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 50 Years 至 —（Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 是
入选标准
- •> 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.
排除标准
- •< 50 years
- •Inclusion Criteria (Healthy controls):
- •> 50 years
- •Exclusion Criteria (Healthy controls):
- •< 50 years
- •autoimmune, rheumatological diease
- •pulmonary precondition
结局指标
主要结局
Quantification of the fraction of hematopoietic cells exhibiting mLOY.
时间窗: Cross sectional. Newly diagnosed patients: At baseline and 12 months after diagnosis).
Detection and quantification of the fraction of hematopoietic cells exhibiting mLOY in peripheral blood using SNP. Unit of Measure: Percentage (%).
次要结局
- Changes in Immune Cell Phenotype(Cross sectional. Newly diagnosed patients: At baseline and 12 months after diagnosis)
- Changes in Cytokine Profiles(Cross sectional. Newly diagnosed patients: At baseline and 12 months after diagnosis)
- Number of Participants with Detected Pulmonary Involvement(Cross sectional. Newly diagnosed patients: At baseline and 12 months after diagnosis)
研究者
Valentin Schäfer
Principal Investigator
University Hospital, Bonn