We have selected key publications on recent developments and important historical publications concerning phenylketonuria (PKU). Free summaries and slide sets are available to download. Reproduction of content owned by BioMarin on this page is authorised for non-commercial purposes. You may be required to clear additional rights if specific content depicts identifiable private individuals or includes third-party works. To use or reproduce content that is not owned by BioMarin (including but not limited to content compiled by BioMarin subject to a license from the original copyright holder), you may need to seek permission directly from the right-holders. Software or documents covered by industrial property rights, such as patents, trademarks, registered designs, logos, and names, are excluded from BioMarin’s reuse policy and are not licensed to you.
Publication summary
OPAL is an ongoing, Phase 4, multicenter, observational study of real-world safety profile and efficacy of pegvaliase in adults with PKU. This study is an interim data cut (December 2022) of OPAL to assess the initial psychometric performance of the adult PKU-SSIS.
Publication summary
Pegvaliase pharmacokinetics differ among individuals, causing variable times to reach target blood Phe levels. This study aimed to model pegvaliase’s impact on blood Phe levels in PKU and identify markers to guide diet and dose adjustments after immune tolerisation.
Publication summary
OPAL is an ongoing, Phase 4, multicentre, observational study assessing the real-world safety and efficacy of pegvaliase in adults with PKU from the US, Germany and Italy. These results are from a second interim analysis.
Publications
14 papers were highlighted in our literature highlights. The first paper by Harding et al. demonstrated that long-term pegvaliase substantially and durably decreased blood Phe levels, with 71.3% achieving a clinically significant blood Phe reduction of ≤600 µmol/L. Burton et al. showed that pegvaliase induced a sustained reduction in target blood Phe concentrations compared with medical nutrition therapy, with or without sapropterin. Rocha et al. highlighted that there is an unmet treatment need due to the limitations and burden of long-term reliance on medical nutrition therapy.
Publications
Rohr et al. investigated the impact of pegvaliase on dietary intake using data from Phase 3 PRISM clinical trials.
Publications
Rocha et al. aimed to develop a set of consensus statements that shed light on the long-term effectiveness of medical nutrition therapy (MNT) and improve the understanding of the impact MNT has on health outcomes in adults with phenylketonuria (PKU).
Publications
Burton et al. compared the long-term effectiveness of pegvaliase versus sapropterin and medical nutrition therapy (MNT), or MNT alone.
Publications
Harding et al. investigated longer-term overall outcomes and characterized individual participant responses to pegvaliase from the randomized trials gathered from PRISM-1, PRISM-2 and the open-label extension study 165-304.