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Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
Screening for dihydropyrimidine dehydrogenase deficiency: to do or not to do, that's the question
1Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands. a.b.vanKuilenburg@amc.uva.nl
Abstract:
The treatment of cancer patients with 5-fluorouracil (5FU)-based chemotherapy can be accompanied by severe and sometimes lethal toxicity. Dihydropyrimidine dehydrogenase (DPD) plays a pivotal role in the metabolism of 5FU and as such, a deficiency of DPD has been recognized as an important risk factor, predisposing patients to the development of severe 5FU-associated toxicity. To date, screening of patients for the presence of a DPD deficiency prior to the treatment is not yet routinely performed. Taking into account the relatively small impact of adjuvant 5FU-based chemotherapy on survival, patients should be informed about the risks of the therapy and should be offered the possibility of testing for the presence of a DPD deficiency in advance of receiving such treatment.
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