The aim is rapid collection of real-life data on the epidemiology, treatment and disease course in patients with VEXAS syndrome during routine clinical practice and collect biomaterials to evaluate genotype-phenotype associations, determine optimal treatment schedule, identify diagnostic features and biomarkers
Patients with established or suspected (clinical and hematological criteria) VEXAS Syndrome
Age ≥18 years
Signed informed consent form
patients who are not in a position to understand the nature and scope of participation in this register
* Planned recruitment: 20-30 patients/year * Number of planned study centres: 15-20
Cohort
Prospective
Not listed
Collection of epidemiological data on VEXAS
incidence, age and sex distribution in adults in Germany
Collection and monitoring of initial disease manifestations
* spectrum and frequency of inflammatory manifestations * Association with hematological (pre)malignancies (MDS, Myeloma, MGUS, CHIP) * Monitor cardiovascular risk/thromboembolic events
Documentation of the treatment approaches and therapy sequences
Documentation of the treatment approaches and therapy sequences
Analysis of clinical-relevant clinical endpoints
complete remission (CR), hematological and clinical remission, molecular remissions, treatment-free remission (TFR)
Describe disease cluster
* Phenotype cluster? * Genotype-phenotype associations? * Identification of biomarker?
Laboratory diagnostics
* Establish Diagnostic FACS signature * Establish biomarker for disease monitoring * Molecular characterization of the key regulatory gene UBA1, but also accompanying molecular mutations * Correlation with HLA polymorphisms * Coagulation Diagnostics
Correlation clinical endpoints with treatment approaches
Correlation clinical endpoints with treatment approaches
Quality of life data (QoL), fatigue questionnaire (Facit-F)
Quality of life data (QoL), fatigue questionnaire (Facit-F)
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Technische Universität Dresden
Lead sponsor
Bristol-Myers Squibb
Collaborator
University Hospital Munich
Collaborator
