Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

Nicola Longo, Georgianne L. Arnold, Gabriella Pridjian, Gregory M. Enns, Can Ficicioglu, Susan Parker, Jessica L. Cohen-Pfeffer

Research output: Contribution to journalArticlepeer-review

29 Scopus citations

Abstract

The Phenylketonuria (PKU) Demographics, Outcomes and Safety (PKUDOS) registry is designed to provide longitudinal safety and efficacy data on subjects with PKU who are (or have been) treated with sapropterin dihydrochloride. The PKUDOS population consists of 1189 subjects with PKU: N = 504 who were continuously exposed to sapropterin from date of registry enrollment, N = 211 who had intermittent exposure to the drug, and N = 474 with some other duration of exposure. Subjects continuously exposed to sapropterin showed an average 34% decrease in blood phenylalanine (Phe) - from 591. ±. 382. μmol/L at baseline to 392. ±. 239. μmol/L (p = 0.0009) after 5. years. This drop in blood Phe was associated with an increase in dietary Phe tolerance [from 1000. ±. 959. mg/day (pre-sapropterin baseline) to 1539. ±. 840. mg/day after 6. years]. Drug-related adverse events (AEs) were reported in 6% of subjects, were mostly considered non-serious, and were identified in the gastrointestinal, respiratory, and nervous systems. Serious drug-related AEs were reported in ≤. 1% of subjects. Similar safety and efficacy data were observed for children. <. 4. years. Long-term data from the PKUDOS registry suggest that sapropterin has a tolerable safety profile and that continuous use is associated with a significant and persistent decrease in blood Phe and improvements in dietary Phe tolerance.

Original languageEnglish
Pages (from-to)557-563
Number of pages7
JournalMolecular Genetics and Metabolism
Volume114
Issue number4
DOIs
StatePublished - 1 Apr 2015
Externally publishedYes

Keywords

  • Phenylalanine
  • Phenylketonuria
  • Sapropterin

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