Observations indicate digital PCR effectively monitors variant allele frequency in VEXAS patients treated with azacitidine, suggesting a reliable tool for therapy management.
Background VEXAS syndrome is an adult‐onset, X‐linked autoinflammatory disorder resulting from somatic variations in the UBA1 gene. Aim To evaluate the adequacy of the digital PCR (dPCR) to follow up the variant allele frequency (VAF) on response to the treatment in patients with VEXAS. Patient and Methods This study is a 1‐year follow‐up of a 76‐year‐old male VEXAS patient treated with azacitidine. The VAF of UBA1 was serially quantified using next‐generation sequencing (NGS) and dPCR. Results There was a high concordance between the two methods. Azacitidine treatment results in a progressive clinical improvement, normalisation of haematologic parameters and a marked reduction in VAF. Conclusion These findings support dPCR as a sensitive and easy‐to‐manage tool for monitoring therapeutic responses in VEXAS syndrome, providing a method with a quick and cost‐effective response. Trial Registration The authors have confirmed clinical trial registration is not needed for this submission
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Bey et al. (2025) studied this question.
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