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Congress Posters & Presentations

Access phenylketonuria related posters and presentations from recent congresses.

Phenylketonuria (PKU)

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PKU Congress Posters and Presentations

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • National PKU Alliance Conference (NPKUA)
  • 2026
  • Burden of Disease

Neuropsychiatric comorbidities in adolescents with PKU in the United States

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Rady Children’s Health – UCI Rare Disease Symposium & Family Conference
  • 2026
  • Burden of Disease

Neuropsychiatric comorbidities in adolescents with PKU in the United States

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • The Professional Society for Health Economics & Outcomes Research Europe (ISPOR-EU)
  • 2025

Real-world healthcare resource utilization in a PKU population: a retrospective observational study in the United States

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • The Professional Society for Health Economics & Outcomes Research Europe (ISPOR-EU)
  • 2025

Lifetime secondary healthcare resource utilization in phenylketonuria from birth to adulthood in Sweden

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • The Professional Society for Health Economics & Outcomes Research Europe (ISPOR-EU)
  • 2025

Work complexity in adults with phenylketonuria in Sweden in 2020

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • The Professional Society for Health Economics & Outcomes Research Europe (ISPOR-EU)
  • 2025

Investigating the patient-relevance of achieving blood Phe thresholds in PKU: Results from an analysis of the OPAL study

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  • Congresses
  • Phenylketonuria (PKU)
  • The Professional Society for Health Economics & Outcomes Research Europe (ISPOR-EU)

Estimating healthcare resource use associated with the treatment of phenylketonuria in the United States

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • European Society for Phenylketonuria & Allied Disorders Treated as PKU (ESPKU)
  • 2025
  • Safety Profile and Efficacy

Index of sustained Phe response and improvements in PKU clinical outcome assessments in patients receiving pegvaliase

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • European Society for Phenylketonuria & Allied Disorders Treated as PKU (ESPKU)
  • 2025
  • Real World Evidence
  • Safety Profile and Efficacy

Improvements in blood phenylalanine and health-related quality of life outcomes among adults with PKU receiving pegvaliase in the OPAL study

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • International Congress of Inborn Errors of Metabolism (ICIEM)
  • 2025
  • Safety Profile and Efficacy

Safety and efficacy of pegvaliase in adolescents with phenylketonuria: Primary results from PEGASUS, a phase 3 open-label randomized controlled study

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • International Congress of Inborn Errors of Metabolism (ICIEM)
  • 2025
  • Safety Profile and Efficacy

PALLADIUM: A phase 4 study to evaluate a rapid drug desensitization protocol for adults with phenylketonuria experiencing hypersensitivity reactions to pegvaliase

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • International Congress of Inborn Errors of Metabolism (ICIEM)
  • 2025
  • Real World Evidence
  • Safety Profile and Efficacy

Real-world safety and tolerability of pegvaliase: A non-interventional surveillance study in Japan

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • International Congress of Inborn Errors of Metabolism (ICIEM)
  • 2025
  • Burden of Disease

Neuropsychiatric comorbidities in adolescents with PKU in the United States

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • International Congress of Inborn Errors of Metabolism (ICIEM)
  • 2025
  • Burden of Disease

Lifetime monitoring of Phe levels in PKU from birth to adulthood in the Swedish Registry for Inherited Metabolic Diseases

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • International Congress of Inborn Errors of Metabolism (ICIEM)
  • 2025
  • Burden of Disease

Work ability in adults with PKU in Sweden in 2020

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • International Congress of Inborn Errors of Metabolism (ICIEM)
  • 2025
  • Burden of Disease

Neuropsychiatric comorbidities in adults with PKU in Sweden

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Southeast Regional Genetics Group Annual Meeting (SERGG)
  • 2025
  • Real World Evidence
  • Safety Profile and Efficacy

Improvements in blood phenylalanine and health-related quality of life outcomes among adults with PKU receiving pegvaliase in the OPAL study

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Southeast Regional Genetics Group Annual Meeting (SERGG)
  • 2025
  • Safety Profile and Efficacy

Index of sustained Phe response and improvements in PKU clinical outcome assessments in patients receiving pegvaliase

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • GARROD Symposium
  • 2025
  • Safety Profile and Efficacy

Index of sustained Phe response and improvements in PKU clinical outcome assessments in patients receiving pegvaliase

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • GARROD Symposium
  • 2025
  • Real World Evidence
  • Safety Profile and Efficacy

Improvements in blood phenylalanine and health-related quality of life outcomes among adults with PKU receiving pegvaliase in the OPAL study

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2025
  • Real World Evidence
  • Safety Profile and Efficacy

Improvements in blood phenylalanine and health-related quality of life outcomes among adults with PKU receiving pegvaliase in the OPAL study

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2025
  • Real World Evidence
  • Safety Profile and Efficacy

Occurrence of anaphylaxis in adult incident pegvaliase-treated PKU patients in a post-marketing safety analysis in the United States

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2025

The Assessment of the Treatment and Management Landscape of Phenylketonuria Survey Study: Findings from 19 Clinics in the United States

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2025
  • Real World Evidence
  • Safety Profile and Efficacy

Initial psychometric evaluation of the Adult Symptom Severity and Impacts Scale (PKU-SSIS) using an interim data cut from the OPAL study

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2025
  • Safety Profile and Efficacy

Index of sustained Phe response and improvements in PKU clinical outcome assessments in patients receiving pegvaliase

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases (JSIMD)
  • 2024
  • Safety Profile and Efficacy

Final safety and efficacy of pegvaliase in Japanese adults with phenylketonuria

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases (JSIMD)
  • 2024
  • Burden of Disease

Assessment of the Treatment and Management LAndScape of Phenylketonuria: ATLAS Survey Study in Japan

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • National PKU Alliance Conference (NPKUA)
  • 2024
  • Real World Evidence
  • Safety Profile and Efficacy

Lessons learned from 5 years of experience with pegvaliase in US clinics: a case series

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • National PKU Alliance Conference (NPKUA)
  • 2024

Exploring the landscape of phenylketonuria education and learning needs of genetics trainees

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society For Inherited Metabolic Disorders (SIMD)
  • 2024
  • Real World Evidence
  • Safety Profile and Efficacy

Lessons learned from 5 years of experience with pegvaliase in US clinics: a case series

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2024
  • Real World Evidence
  • Safety Profile and Efficacy

Reduction of blood phenylalanine in participants enrolled in OPAL, an observational study, mirror findings from the US-based PRISM population

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2024

Exploring the landscape of phenylketonuria education and learning needs of genetic trainees

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases (JSIMD)
  • 2023
  • Safety Profile and Efficacy

Three-year interim safety and efficacy of pegvaliase in Japanese adults with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases (JSIMD)
  • 2023
  • Burden of Disease

Evaluating trends in metabolic control and treatment history among pegvaliase trial participants

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases (JSIMD)
  • 2023
  • Burden of Disease

Systematic literature review of prevalence and severity of somatic comorbidities in adults with PKU

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society for the Study of Inborn Errors of Metabolism (SSIEM)
  • 2023
  • Burden of Disease

Evaluating trends in self-rated historic metabolic control and treatment history among PRISM participants

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society for the Study of Inborn Errors of Metabolism (SSIEM)
  • 2023
  • Real World Evidence

OPAL: A multicenter, observational study to evaluate the real-world outcomes of pegvaliase in adults with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society for the Study of Inborn Errors of Metabolism (SSIEM)
  • 2023

Design of a global, multicenter study to assess maternal, fetal, and infant outcomes of pegvaliase exposure during pregnancy and breastfeeding

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Southeast Regional Genetics Group Annual Meeting (SERGG)
  • 2023

Design of a global, multicenter study to assess maternal, fetal, and infant outcomes of pegvaliase exposure during pregnancy and breastfeeding

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Southeast Regional Genetics Group Annual Meeting (SERGG)
  • 2023
  • Safety Profile and Efficacy

The long-term safety and efficacy of pegvaliase 60 mg/day in adults with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society For Inherited Metabolic Disorders (SIMD)
  • 2023

Design of a global, multicenter study to assess maternal, fetal, and infant outcomes of pegvaliase exposure during pregnancy and breastfeeding

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society For Inherited Metabolic Disorders (SIMD)
  • 2023
  • Burden of Disease

Evaluating trends in self-rated historic metabolic control and treatment history among PRISM participants

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases (JSIMD)
  • 2022
  • Safety Profile and Efficacy

Two-year Interim Safety and Efficacy of pegvaliase in Japanese adults with Phenylketonuria

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases (JSIMD)
  • 2022
  • Safety Profile and Efficacy

The long-term safety and efficacy of pegvaliase 60 mg/day in adults with Phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society for the Study of Inborn Errors of Metabolism (SSIEM)
  • 2022
  • Real World Evidence
  • Safety Profile and Efficacy

Kuvan® Adult Maternal Paediatric European Registry (KAMPER): Final results in phenylketonuria (PKU) patients

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society for the Study of Inborn Errors of Metabolism (SSIEM)
  • 2022
  • Real World Evidence
  • Safety Profile and Efficacy

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society for the Study of Inborn Errors of Metabolism (SSIEM)
  • 2022
  • Safety Profile and Efficacy

Efficacy and safety of the recommended pegvaliase dosing regimen in adults with phenylketonuria in the phase 3 PRISM studies

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society for the Study of Inborn Errors of Metabolism (SSIEM)
  • 2022

Design of a phase 3 open-label randomized controlled multi-center study evaluating the safety and efficacy of pegvaliase in adolescents (ages 12–17) with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society for the Study of Inborn Errors of Metabolism (SSIEM)
  • 2022
  • Burden of Disease

Assessing the health status of ≥16-year-old patients with early-diagnosed PKU from the retrospective analysis of the full French insurance claims cohort 2006-2018

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society for the Study of Inborn Errors of Metabolism (SSIEM)
  • 2022
  • Burden of Disease

Assessing the health status of patients with late-diagnosed PKU from the retrospective analysis of the full French insurance claims cohort 2006-2018

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • National PKU Alliance Conference (NPKUA)
  • 2022

Design of a phase 3 open-label randomized controlled multi-center study evaluating the safety and efficacy of pegvaliase in adolescents (ages 12–17) with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference (GMDI)
  • 2022
  • Safety Profile and Efficacy

Efficacy and safety of the recommended pegvaliase dosing regimen in adults with phenylketonuria in the phase 3 PRISM studies

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Society For Inherited Metabolic Disorders (SIMD)
  • 2022
  • Safety Profile and Efficacy

Efficacy and safety of the recommended pegvaliase dosing regimen in adults with phenylketonuria in the phase 3 PRISM studies

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2021

Phenom: A prospective clinical study on the clinical impact of phenylketonuria in adults (307-902)

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2021
  • Burden of Disease

Measuring phenylketonuria burden of illness: Development of the Phenylketonuria Symptom Severity and Impacts Scale as a robust patient reported outcome

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2021
  • Burden of Disease

Birth prevalence of phenylalanine hydroxylase deficiency: A systematic literature review and meta-analysis

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference (GMDI)
  • 2021
  • Safety Profile and Efficacy

ENDURE: A phase IV, open-label trial to assess the responsiveness of patients with phenylketonuria in Denmark to treatment with sapropterin over 28 days

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference (GMDI)
  • 2021
  • Burden of Disease

Measuring phenylketonuria burden of illness: Development of the Phenylketonuria Symptom Severity and Impacts Scale as a robust patient reported outcome

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases (JSIMD)
  • 2021
  • Safety Profile and Efficacy

Study 165-305: Interim Safety and Efficacy of Pegvaliase in Japanese Adults with Phenylketonuria

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases (JSIMD)
  • 2021
  • Safety Profile and Efficacy

Efficacy and Safety of the recommended Pegvaliase dosing regimen in adults with Phenylketonuria in the Phase 3 Prism Studies

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2020
  • Safety Profile and Efficacy

Phase 3 PRISM studies: Efficacy and safety of pegvaliase in patients aged 16 and 17 years with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2020
  • Safety Profile and Efficacy

Phase 3 PRISM studies: Update of efficacy and safety of pegvaliase for the treatment of adults with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2020
  • Safety Profile and Efficacy

Phase 3 PRISM studies: Efficacy and safety of pegvaliase 60 mg dose in adult patients with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2020
  • Safety Profile and Efficacy

Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Results from phase 2 and 3 clinical trials

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2020

A prospective clinical study on the clinical impact of phenylketonuria in adolecents and adults: Phenom study design

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2020
  • Safety Profile and Efficacy

Effect of sapropterin dihydrochloride on IQ preservation in children (aged 0–6 years) with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American Society of Human Genetics (ASHG)
  • 2020

High Phenylalanine Concentration Contributes to the Stability of the F263S-variant of Phenylalanine Hydroxylase

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2020
  • Safety Profile and Efficacy

Dietary intakes and adverse events in pegvaliase-treated phenylketonuria adults who had low blood phenylalanine concentrations

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • GARROD Symposium
  • 2023
  • Burden of Disease

Systematic literature review of the prevalence and severity of somatic comorbidities in adults with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • GARROD Symposium
  • 2023
  • Burden of Disease

Evaluating trends in self-rated historic metabolic control and treatment history among PRISM participants

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics & Genomics (ACMG)
  • 2023
  • Burden of Disease

Systematic literature review of the prevalence and severity of somatic comorbidities in adults with phenylketonuria

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Presentation

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  • Congresses
  • Phenylketonuria (PKU)
  • American Society of Human Genetics (ASHG)
  • 2020
  • Safety Profile and Efficacy

Phase 3 PRISM studies: Efficacy & safety of pegvaliase 60mg in adult patients with PKU

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference (GMDI)
  • 2020
  • Safety Profile and Efficacy

Effect Of Sapropterin Dihydrochloride On IQ Preservation In Children (Aged 0-6 Years) With Phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference (GMDI)
  • 2020
  • Safety Profile and Efficacy

Phase 3 PRISM studies: Efficacy and safety of pegvaliase 60 mg dose in adult patients with phenylketonuria

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Poster

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  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference (GMDI)
  • 2020
  • Safety Profile and Efficacy

Phase 3 PRISM studies: Efficacy and safety of pegvaliase in patients 16-17 years of age with phenylketonuria

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