Forschung & Innovation
Publikationen
Efficacy and safety of sapropterin before and during pregnancy
PMU Autor*in
Florian B Lagler
Alle Autor*innen
François Feillet, Can Ficicioglu, Florian B Lagler, Nicola Longo, Ania C Muntau, Alberto Burlina, Friedrich K Trefz, Francjan J van Spronsen, Jean-Baptiste Arnoux, Kristin Lindstrom, Joshua Lilienstein, Gillian E Clague, Richard Rowell, Barbara K Burton, ,
Fachzeitschrift
JOURNAL OF INHERITED METABOLIC DISEASE
Kurzfassung
Infants born to mothers with phenylketonuria (PKU) may develop congenitalabnormalities because of elevated phenylalanine (Phe) levels in the motherduring pregnancy. Maintenance of blood Phe levels between 120 and360μmol/L reduces risks of birth defects. Sapropterin dihydrochloride helpsmaintain blood Phe control, but there is limited evidence on its risk–benefitratio when used during pregnancy. Data from the maternal sub-registries—KAMPER (NCT01016392) and PKUDOS (NCT00778206; PKU-MOMs sub-registry)—were collected to assess the long-term safety and efficacy of saprop-terin in pregnant women in a real-life setting. Pregnancy and infant outcomes,and the safety of sapropterin were assessed. Final data from 79 pregnancies in57 women with PKU are reported. Sapropterin dose was fairly constant beforeand during pregnancy, with blood Phe levels maintained in the recommendedtarget range during the majority (82%) of pregnancies. Most pregnancies werecarried to term, and the majority of liveborn infants were reported as‘normal’at birth. Few adverse and serious adverse events were considered related tosapropterin, with these occurring in participants with high blood Phe levels.This report represents the largest population of pregnant women with PKUexposed to sapropterin. Results demonstrate that exposure to sapropterin dur-ing pregnancy was well-tolerated and facilitated maintenance of blood Phelevels within the target range, resulting in normal delivery. This critical real-world data may facilitate physicians and patients to make informed treatmentdecisions about using sapropterin in pregnant women with PKU and in womenof childbearing age with PKU who are responsive to sapropterin.
Keywords
REGISTRY, PKU, BH4, PREGNANCY, maternal PKU, Sapropterin