Two years of pegvaliase in Germany: Experiences and best practice recommendations

Johannes Krämer; Christoph Baerwald; Christian Heimbold; Clemens Kamrath; Klaus G Parhofer; Anja Reichert; Frank Rutsch; Simone Stolz; Natalie Weinhold; Ania C Muntau

doi:10.1016/j.ymgme.2023.107564

Two years of pegvaliase in Germany: Experiences and best practice recommendations

Mol Genet Metab. 2023 May;139(1):107564. doi: 10.1016/j.ymgme.2023.107564. Epub 2023 Apr 1.

Authors

Affiliations

¹ Department of Neuropediatrics and Metabolism, University of Ulm, Ulm, Germany.
² Rheumatology Unit, Department of Internal Medicine, Neurology and Dermatology, University Medical Center Leipzig, Leipzig, Germany.
³ BioMarin Deutschland GmbH, Germany.
⁴ Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
⁵ Medical Department IV, LMU Medical Center, Munich, Germany.
⁶ Münster University Children's Hospital, Münster, Germany.
⁷ Department of Paediatrics, Hospital Carl-Thiem-Klinikum Cottbus, Cottbus, Germany.
⁸ Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Center of Chronically Sick Children, Berlin, Germany.
⁹ University Children's Hospital, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany. Electronic address: muntau@uke.de.

PMID: 37086569
DOI: 10.1016/j.ymgme.2023.107564

Abstract

Background: In 2019, pegvaliase was approved in Europe for the treatment of phenylketonuria (PKU) in patients aged 16 years and older with blood phenylalanine (Phe) concentrations above 600 μmol/L despite prior management with available treatment options. Since its European approval, German metabolic centres have gained valuable experience, which may be of benefit to other treatment centres managing patients on pegvaliase.

Methods: After a virtual meeting that was attended by nine German physicians, three German dietitians and one American physician, a follow-up discussion was held via an online platform to develop a set of recommendations on the use of pegvaliase in Germany. Eight German physicians contributed to the follow-up discussion and subsequent consensus voting, using a modified Delphi technique. The recommendations were supported by literature and retrospectively collected patient data.

Results: Consensus (≥75% agreement) was achieved on 25 recommendations, covering seven topics deemed relevant by the expert panel when considering pegvaliase an option for the treatment of patients with PKU. In addition to the recommendations, a retrospective chart review was conducted in seven of the centres and included 71 patients who initiated treatment with pegvaliase. Twenty-seven patients had been treated for at least 24 months and 23 (85.2%) had achieved blood Phe ≤600 μmol/L with some degree of diet normalisation. Of these patients, 14 had physiological blood Phe on a normalised diet.

Conclusion: The practical consensus recommendations provide guidance on the different steps along the pegvaliase journey from clinical site requirements to treatment goals and outcomes. The recommendations are intended to support less experienced European metabolic centres with the implementation of pegvaliase, emphasising that a core treatment team consisting of at least a dietitian and metabolic physician is sufficient to initiate pegvaliase and support patients during their treatment journey.

Keywords: Consensus; Germany; PKU; Pegvaliase; Phenylketonuria; Recommendations.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Europe
Germany
Humans
Phenylalanine
Phenylalanine Ammonia-Lyase* / therapeutic use
Phenylketonurias* / drug therapy
Retrospective Studies

Substances

pegvaliase
Phenylalanine Ammonia-Lyase
Phenylalanine