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

Molecular Genetics and Metabolism
Nicola LongoPhenylketonuria Demographics, Outcomes and Safety Registry

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 cont...Continue Reading

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Citations

Mar 26, 2016·Molecular Genetics and Metabolism Reports·Christine S Brown, Uta Lichter-Konecki
Aug 3, 2019·Journal of Inherited Metabolic Disease·Roeland A F EversFrancjan J van Spronsen
Oct 14, 2017·Orphanet Journal of Rare Diseases·A M J van WegbergF J van Spronsen
Oct 24, 2017·Journal of Nutrition and Metabolism·Laurie BernsteinFrances Rohr
Jun 27, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Peyman EshraghiVajiheh Chalak
Oct 31, 2018·Orphanet Journal of Rare Diseases·Kristen D BrantleyRani H Singh
Jan 31, 2019·The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG·Aaron A Harthan
Jul 19, 2020·International Journal of Molecular Sciences·Neha SarodayaSuresh Ramakrishna
May 29, 2020·Archives of Biochemistry and Biophysics·Inês M S GuerraAna S P Moreira
Jun 3, 2021·Molecular Genetics and Metabolism·Melissa Lah, Molly McPheron
Jun 13, 2021·Molecular Genetics and Metabolism·Krista ViauFran Rohr

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