So we recently developed a technique to diagnose, track and follow up the culprit three type of mutation, or better say amino acid substitution that we have in VEXAS. Somatic mutation of UBA1, in particular the methionine 41 hotspot, are the genomic underpinnings of VEXAS and in particular three amino acid substitutions can be found in these patients, in up to 90% of cases...
So we recently developed a technique to diagnose, track and follow up the culprit three type of mutation, or better say amino acid substitution that we have in VEXAS. Somatic mutation of UBA1, in particular the methionine 41 hotspot, are the genomic underpinnings of VEXAS and in particular three amino acid substitutions can be found in these patients, in up to 90% of cases.
So what we have done is develop a digital droplet PCR methodology and we have externally validated with the help of two centers in Bergamo, northern Italy, in the Lombardy region and in Dresden in Germany. We sent 216 samples blindly and then we gathered results with a different sensitivity threshold up to the sensitivity of 10 to the minus 3 and we found that our method was highly sensitive and specific for this mutation and was able to be used up to the sensitivity threshold of 10 to the power of minus two, with a good intraclass coefficient that helped us to understand how to follow up these patients when we use longitudinal samples of patients with VEXAS undergoing a variety of treatments, both hematological and rheumatological. And what we found was important because we found that some treatments do not have any effect on the molecular clonality in this patient, whereas some others like azacitidine, that is a drug commonly used in myelodysplastic syndrome, as well as transplant, instead were abating UBA1 clonality.
This transcript is AI-generated. While we strive for accuracy, please verify this copy with the video.
