Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

Molecular Genetics and Metabolism Reports

Joseph W. Ray¹  Kea Crivelly²  Heather Bausell³  Kaleigh Whitehall³  Darius Adams⁴  Kristin Lindstrom⁵  Jennifer Tiffany-Amaro⁶  Melissa Lah⁷  Hans C. Andersson⁸  Caroline Eggerding⁸  Joshua Lilienstein⁹  Markey McNutt^1,10  Janet Thomas^1,11  Erika Vucko^1,12  Danielle Starin^1,13  Leah B. Wessenberg^1,14  Stephanie Sacharow^1,15  Heather Saavedra^1,16 

[1] Corresponding author at: BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA.;Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA;;Ann &Atlantic Health Morristown Medical Center, Morristown, NJ, USA;BioMarin Pharmaceutical Inc., Novato, CA, USA;Boston Children's Hospital, Harvard Medical School, Boston, MA, USA;Cooper University Health Care, Camden, NJ, USA;Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA;Indiana University School of Medicine, Indianapolis, IN, USA;Phoenix Children's Hospital, Phoenix, AZ, USA;Rare Disease Institute, Children's National, Washington, DC, USA;St. Christopher's Hospital for Children, Philadelphia, PA, USA;The University of Texas Health Science Center at Houston - McGovern Medical School, Houston, TX, USA;University of Colorado School of Medicine, Aurora, CO, USA;University of Texas Medical Branch, Galveston, TX, USA;University of Texas Southwestern Medical Center, Dallas, TX, USA;

关键词: Phenylketonuria;    Case series;    Pegvaliase;    PEGylated phenylalanine ammonia lyase;    PKU diet;    Adverse events;   

DOI  :  

来源: DOAJ

【 摘 要 】

Objective: To present a case series that illustrates real-world use of pegvaliase based on the initial experiences of US healthcare providers. Methods: Sixteen healthcare providers from 14 centers across the US with substantial clinical experience in treating patients with phenylketonuria (PKU) with pegvaliase in the two-plus years since FDA approval (May 2018) provided cases that exemplified important lessons from their initial experiences treating patients with pegvaliase. Key lessons from each case and takeaway points were discussed in both live and virtual meetings. Results: Fifteen cases of adults with PKU (eight males, seven females), representing a spectrum of age (18 to 53 years), previous PKU care, comorbidities, and socioeconomic situations were reviewed and discussed. Full extended case reports are included in the Supplement. The cases showed that treating patients with a daily injectable can be challenging due to a patient's financial problems, treatment challenges, and neuropsychological and psychiatric comorbidities, which can be identified before starting pegvaliase, but do not prohibit successful treatment. The authors agreed that patient education on adverse events (AEs), time to efficacy, dietary changes, and food preparation is an ongoing process that should start prior to initiating pegvaliase treatment. Treatment goals and planned dietary changes once efficacy is reached should be defined prior to treatment initiation and re-evaluated throughout the course of therapy. Each patient's titration schedule and dietary adjustments are unique, depending on occurrence of AEs and individual goals of treatment. Despite the AE profile of pegvaliase, all but two patients remained motivated to continue treatment and achieved efficacy (except one patient in whom titration was still ongoing). AEs occurring early in the treatment pathway may require prolongation of the titration phase and/or concomitant medication use, but do not seem indicative of future tolerability or eventual efficacy. Close follow-up of patients during titration and maintenance to help with dietary changes is important. Conclusion: This case series provides real-world experience on the use of pegvaliase. Until data from registries and independent research become available, the data presented herein can support appropriate management of patients receiving pegvaliase in clinical practice.

【 授权许可】

Unknown