Investigating the Role of Y Chromosome Mutations in Autoimmune Diseases
Investigating the Role of Hematopoietic Mutations and Mosaic Mutation in the Y Chromosome in Autoimmune Rheumatologic Diseases
This study is trying to see how changes in the Y chromosome might affect the immune system and contribute to autoimmune diseases like Giant Cell Arteritis and Polymyalgia Rheumatica.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 50 Years and up |
| Sex | Male |
| Sponsor | University of Bonn Academic / other |
| Locations | 1 site (Bonn, North Rhine-Westphalia) |
| Trial ID | NCT06696027 on ClinicalTrials.gov |
What this trial studies
The AYLo study focuses on understanding the impact of hematopoietic mutations, particularly the loss of the Y chromosome, on autoimmune rheumatologic diseases such as Giant Cell Arteritis and Polymyalgia Rheumatica. By employing advanced techniques like SNP arrays, mRNA sequencing, and flow cytometry, the study aims to uncover how these mutations affect immune function and disease progression. This observational research seeks to fill knowledge gaps regarding the mechanisms driving inflammation and susceptibility in these conditions.
Who should consider this trial
Good fit: Ideal candidates for this study are males over 50 years old diagnosed with specific autoimmune or rheumatologic conditions.
Not a fit: Patients who are female or under 50 years old will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of autoimmune diseases, potentially enhancing patient outcomes.
How similar studies have performed: While the specific focus on Y chromosome mutations in this context may be novel, similar studies exploring genetic factors in autoimmune diseases have shown promising results.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Bonn, North Rhine-Westphalia
- Department of Rheumatology — Bonn, North Rhine-Westphalia, Germany (Recruiting)
Study contacts
- Study coordinator: Simon Michael Petzinna, MD
- Email: Simon_Michael.Petzinna@ukbonn.de
- Phone: 0049 151 382 337 07
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.