ArticleMolecular genetics and metabolism reports2022
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data.
Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.Nature metabolism · 2023Trial
- Sepiapterin: A Distinct, Dual Mechanism of Action that Leads to Potential Treatment Benefits Across the Spectrum of Phenylketonuria Disease Severities.Advances in therapy · 2026Article
- Long-Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III Trial.JIMD reports · 2026Article
- Article
- Escherichia coli in the production of biopharmaceuticals.Biotechnology and applied biochemistry · 2025Review
- Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).Molecular genetics and metabolism reports · 2024Review
- Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study.Molecular genetics and metabolism reports · 2023Article
- Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Nutrients · 2023Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Phenylketonuria (PKU) is an inborn metabolic error characterized by a deficiency of the enzyme required for the metabolism of phenylalanine, an essential amino acid found in most protein-containing foods. Pegvaliase (Palynziq®) is an enzyme substitution therapy approved for adults with PKU who have inadequate blood phenylalanine control (≥600 μmol/L) on existing management. Objective: To characterize the treatment, discontinuation, and dosing patterns in patients treated with pegvaliase in real-world practice settings in the United States following commercial availability in 2018. Study design: Retrospective cohort study using BioMarin's proprietary drug dispense database associated with the pegvaliase REMS program. Methods: Sample construction identified all patients who properly initiated pegvaliase in real world settings ('full cohort') and a subset of patients ('extended follow-up cohort') with ≥12 months between first dispense of maximum dose and last pegvaliase dispense. Key outcomes were quantified across patients in both cohorts: maximum daily dose; time to maximum daily dose; maximum daily syringes; and dose escalation over time. The overall dose at discontinuation and time to discontinuation were calculated. Patients who subsequently reinitiated therapy were identified. For the extended follow-up cohort, 12-month changes in dose and syringes and dispensing gaps during the 12 months after maximum dose were quantified across all patients and were further stratified by maximum dose. Results: Overall, 1596 patients associated with 33,814 dispenses were reflected in the pegvaliase dispense dataset during the study period from July 9, 2018, through December 31, 2021; 1280 patients associated with 25,973 dispenses met inclusion criteria for the full cohort, with 19.9 dispenses each on average. Of these patients, 483 patients associated with 15,149 dispenses also met the extended follow-up criteria, with an average of 31.4 dispenses.Average treatment duration in the full cohort was 82.2 weeks, including 50.8 weeks after maximum daily dose was achieved. The average maximum daily dose was 30 mg with an average time to maximum dose of 31.8 weeks: 43.0% of patients had a maximum dose of 20 mg, 31.3% a maximum dose of 40 mg, and 12.0% a maximum dose of 60 mg. At data cut-off, 289 patients (22.6%) had discontinued; within this group, 126 patients (43.6%) discontinued within the first 6 months after reaching maximum dose.The overall average treatment duration for patients in the extended follow up cohort at data cut off was 131.2 weeks, including 98.6 weeks after maximum dose was achieved. The average maximum daily dose across the cohort was 32.9 mg: 42.4% of patients had a maximum dose of 20 mg, 41.0% a maximum dose of 40 mg, and 11.2% a maximum dose of 60 mg. At 12 months after achieving maximum dose, 35% of patients had down-dosed, with a 46.8% decrease (on average) from their maximum dose. Conclusions: Real-world use of pegvaliase reflects longer titration periods than in the dosing schedule based on trial experience. Over time, a substantial number of patients are able to reduce their daily dose by titrating down from their maximum dose, a finding of great interest to clinicians and patients alike.
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