= Emerging. More than 5 years before clinical availability. (9.82%)
= Expected to be clinically available in 1 to 4 years. (12.95%)
= Clinically available now. (22.77%)
MSACL 2018 EU : Thorsteinsdottir

MSACL 2018 EU Abstract

Topic: Small Molecules

Podium Presentation in the Ether on Thursday at 14:30 (Chair: Zdenek Spacil)

Development of a 2D-UPLC-MS/MS Assay for Therapeutic Monitoring for Patients with APRT Deficiency

Unnur Arna Thorsteinsdottir (Presenter)
University of Iceland

Presenter Bio(s): I hold a master’s degree in cell biology from the University of Copenhagen (graduated in 2015). I’m currently a PhD student at the Faculty of Pharmaceutical Sciences at the University of Iceland (2016-current). In my PhD project I’m developing a clinical diagnostic method for a rare kidney stone disease using UPLC-MS/MS.

Authors: Unnur A. Thorsteinsdottir (1,2), Finnur F. Eiriksson (1,2), Hrafnhildur L. Runolfsdottir (1), Thorsteinn Hjortur Bjarnason (1,2), Vidar O Edvardsson (3), Runolfur Palsson (1,3), Margret Thorsteinsdottir (1,2)
(1)University of Iceland, Reykjavik, Iceland; (2) ArcticMass, Reykjavik, Iceland; (3) Landspitali – The National University Hospital of Iceland, Reykjavik, Iceland


Adenine phosphoribosyltransferase (APRT) deficiency results in excessive urinary excretion of poorly soluble 2,8-dihydroxyadenine (DHA), causing nephrolithiasis and chronic kidney disease. Treatment with allopurinol and febuxostat effectively reduces DHA excretion and prevents urinary stone formation. However, a reliable method for therapeutic monitoring of patients with APRT deficiency is lacking. A 2D-UPLC-MS/MS assay for simultaneous quantification of the purines DHA, adenine, adenosine, inosine, hypoxanthine and xanthine and the pharmacological agents allopurinol, its active metabolite oxypurinol, and febuxostat, in human plasma samples will be developed and optimized utilizing design of experiments (DoE). To our knowledge, this is the first report of an absolute quantification of DHA in human plasma.

Financial Disclosure

Board Memberyes
IP Royaltyno

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