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Publications

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.

Publications

PKU.expert single slide summaries

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

Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data

Rohr et al. investigated the impact of pegvaliase on dietary intake using data from Phase 3 PRISM clinical trials.

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Publications

Expert consensus on the long-term effectiveness of medical nutrition therapy and its impact on the outcomes of adults with phenylketonuria

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).

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Publications

Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria

Burton et al. compared the long-term effectiveness of pegvaliase versus sapropterin and medical nutrition therapy (MNT), or MNT alone.

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Publications

Pegvaliase for the treatment of phenylketonuria: Final results of a long-term Phase 3 clinical trial program

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.

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