SNPMiner Trials (Home Page)
Report for Mutation V167F
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Arterial Function and Atherosclerosis in Patients With JAK2 V167F Positive Essential Thrombocythemia
The aim of the study is to examine (a) whether patients with JAK2 V617F positive ET in comparison to age-and sex-matched, apparently healthy control subjects show more advanced progression of arterial stiffness, pulse-wave velocity and coronary calcium score in a 4 year observation period, and (b) whether the burden of JAK2 V617F mutation correlates with the measured vascular parameters. All subjects will be examined twice. The first visit already took place between the years 2014 - 2015 and the second visit will take place between 2018-2019. All participants will have signed their informed consent before entering the study. Each visit will consist of completing a structured questionnaire (on personal and family medical history, risk factors for CVD and medication), physical examination, donating a blood sample for laboratory tests and undergoing carotid ultrasound and coronary calcium measurement oft the extent of coronary artery calcification. At the first and the second examination the JAK2 V617F allele burden, i.e. the percentage of mutated alleles, will be determined from genomic DNA in peripheral blood.
NCT03828422 Atherosclerosis Diagnostic Test: imaging MeSH:Atherosclerosis Thrombocytosis Thrombocythemia, Essential
HPO:Atherosclerosis Thrombocytosis Type IV atherosclerotic lesion
Arterial Function and Atherosclerosis in Patients With JAK2 V167F Positive Essential Thrombocythemia. --- V167F ---
Primary Outcomes
Description: Do patients with JAK2 V617F positive ET in comparison to age-and sex-matched, apparently healthy control subjects show more advanced progression of carotid artery stiffness (expressed as two interrelated parameters, the beta-stiffness index and the pulse wave velocity) in a 4 year observation period?
Measure: Change of carotid artery stiffness (expressed by beta-stiffness index and pulse wave velocity) in JAK2 V617F positive ET patients in comparison to healthy control subjects in a 4-year period. Time: the first visit in 2014-2015 and the second visit in 2018-2019Description: Do patients with JAK2 V617F positive ET in comparison to age-and sex-matched, apparently healthy control subjects show more advanced progression of carotid plaque score in a 4 year observation period? Scoring of atherosclerotic plaques will be done according to the Rotterdam Study. The presence of at least one plaque in each segment of the extracranial carotid arterial bed, (the common carotid artery and the bulb, the internal carotid artery and the external carotid artery) on either side is scored 1 point. Thus, the carotid plaque score ranges from 0 (absence of plaques, best) to 6 (plaques present in all segments on both sides, worst outcome).
Measure: Change of carotid artery plaque score in JAK2 V617F positive ET patients in comparison to healthy control subjects in a 4-year period. Time: the first visit in 2014-2015 and the second visit in 2018-2019Description: Do patients with JAK2 V617F positive ET in comparison to age-and sex-matched, apparently healthy control subjects show more advanced progression of coronary calcium score in a 4 year observation period?
Measure: Change of coronary calcium burden in JAK2 V617F positive ET patients in comparison to healthy control subjects in a 4-year period. Time: the first visit in 2014-2015 and the second visit in 2018-2019Description: Do patients with JAK2 V617F positive ET in comparison to age-and sex-matched, apparently healthy control subjects show greater changes digital endothelial function, expressed as the Reactive Hyperemia Index (RHI), in a 4 year observation period? The RHI is the ratio of the pletysmographic amplitude of the digital arteries during maximal reactive hyperemia and the basal amplitude. RHI ranges from 1 (no augmentation of pulsation with reactive hyperemia, i.e. worst outcome) to values above 2 (good endothelial response to reactive hyperemia).
Measure: Change of digital endothelial function, expressed as the Reactive Hyperemia Index, in JAK2 V617F positive ET patients in comparison to healthy control subjects in a 4-year period. Time: the first visit in 2014-2015 and the second visit in 2018-2019Description: Quantification of JAK2 V617F mutation burden and its correlation with the coronary calcium burden.
Measure: Association of the JAK2 V617F mutation burden with the coronary calcium burden. Time: at inclusion in the years 2014-2015, and at the second visit in 2018-2019