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Phenylketonuria (PKU)

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PKU Congress Posters and Presentations

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Presentation

  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases
  • 2023

Three-year Interim Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria

Y. Nakajima, M. Ishige, T. Ito, T. Hamazaki, M. Kuwahara, L. Lawrence, H. Shintaku

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases
  • 2023

Evaluating Trends in Metabolic Control and Treatment History Among Pegvaliase Trial Participants

K. Fujikawa,  S. Hollander, M. McNutt, S. Rose, K. Lindstrom, R. Rowell, A. Sanchez-Valle

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases
  • 2023

Systematic Literature Review of Prevalence and Severity of Somatic Comorbidities in Adults with PKU

C. Harding, S. Rose, K.B. Whitehall, G.E. Clague, K.K. Ahring, D.A. Bilder, A. Hermida, A. Inwood, N. Longo, F. Maillot, A.C. Muntau, A.S.L. Pessoa, J.C. Rocha, F. Rohr, S. Sivri, J. Said, S. Oshinbolu, G.C. Sibbring

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Poster

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

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

M. McNutt, S. Hollander, S. Rose, K. Lindstrom, R. Rowell, A. Sanchez-Valle

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Poster

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

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

F. Rutsch, O. Sazova, S. Warrak, K. Gu, E. Kucuksayrac, A.C. Muntau

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Poster

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

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

N. Longo, G.E. Clague, C. Decker, J. Hunt, O. Sazova

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Poster

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

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

N. Longo, R. Zori, H. Northrup, A. Sanchez-Valle, S. Sacharow, S. Jones, L. Lee, K. Bulloch-Whitehall, S. Rose, D. Lounsbury

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Poster

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

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

N. Longo, E. Bishop, G.E. Clague, C. Decker, J. Hunt, O. Sazova

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Garrod Symposium
  • 2023

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

S. Hollander, S. Rose, K. Lindstrom, R. Rowell, A. Sanchez-Valle, M. McNutt

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Garrod Symposium
  • 2023

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

K. B. Whitehall, S. Rose, G. E. Clague, K. K. Ahring, D. A. Bilder, C. O. Harding, A. Hermida, A. Inwood, N. Longo, F. Maillot, A. C. Muntau, A. S. L. Pessoa, J. C. Rocha, F. Rohr, S. Sivri, J. Said, S. Oshinbolu, G. C. Sibbring

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Poster

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

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

N. Longo, G. E. Clague, C. Decker, J. Hunt, O. Sazova

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Poster

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

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

S. Hollander, S. Rose, K. Lindstrom, R. Rowell, A. Sanchez-Valle, M. McNutt

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • American College of Medical Genetics and Genomics
  • Society For Inherited Metabolic Disorders
  • 2023

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

K. B. Whitehall, S. Rose, G. E. Clague, K. K. Ahring, D. A. Bilder, C. O. Harding, A. Hermida, A. Inwood, N. Longo, F. Maillot, A. C. Muntau, A. S. L. Pessoa, J. C. Rocha, F. Rohr, S. Sivri, J. Said, S. Oshinbolu, G. C. Sibbring

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Presentation

  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases
  • 2022

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

M. Ishige, T. Ito, T. Hamazaki, M. Kuwahara, R. Rowell, H. Shintaku

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Presentation

  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases
  • 2022

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

N. Longo, R. Zori, H. Northrup, A. Sanchez-Valle, S. Sacharow, S. Jones, L. Lee, K. Bulloch-Whitehall, D. Lounsbury

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Poster

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

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

F. Feillet, J. B. Arnoux, A. Bélanger-Quintana, M. B. Delgado, A. Burlina, E. Kucuksayrac, F. B. Lagler, A. C. Muntau, D. Olsson, S. Paci, F. Rutsch, F. J. van Spronsen on behalf of the KAMPER investigators

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Poster

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

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

F. Feillet, C. Ficicioglu, F. B. Lagler, N. Longo, J. Alm, A. C. Muntau, A. Burlina, A. Bélanger-Quintana, F. K. Trefz, J. Lilienstein, G. E. Clague, R. Rowell, B. K. Burton on behalf of the KAMPER and PKUDOS investigators

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Poster

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

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

B. Burton, S. Sacharow, H. Northrup, K. B. Whitehall, R. Rowell, K. Lindstrom, J. Thomas

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Poster

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

A. C. Muntau, D. A. Bilder, C. Brown, D. Lounsbury, S. Jones, L. Lee, R. Zori

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Poster

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

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

J. B. Arnoux, S. Bouée, F. Maillot, J. Theil, C. Jacob, K. M. Schneider, S. Charrière

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Poster

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

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

J. B. Arnoux, S. Bouée, F. Maillot, J. Theil, C. Jacob, K. M. Schneider, S. Charrière

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Poster

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

D. A. Bilder, C. Brown, D. Lounsbury, S. Jones, L. Lee, A. C. Muntau, R. Zori

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference
  • 2022

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

K. Lindstrom, S. Sacharow, H. Northrup, K.B. Whitehall, R. Rowell, B. Burton, J. Thomas

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Society For Inherited Metabolic Disorders
  • 2022

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

S. Sacharow, H. Northrup, K.B. Whitehall, R.Rowell, K. Lindstrom, B. Burton, J. Thomas

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Poster

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

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

C. O. Harding, T. Geberhiwot, H. H. Weng, A. Sandhu, D. Neil, R. Bassi, K. Gu, D. Adams, A. Sanchez-Valle, J. Vockley

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Poster

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

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

E. Jurecki, A. Georgiadis, H. B. Lewis, J. Quinn

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Poster

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

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

K. Alexander, A. V. Margulis, P. Foreman, R. Shediac, B. Calingaert, A. Harding, M. Pladevall-Vila, S. H. Landis

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference
  • 2021

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

K. Ahring, K. Enggaard, M. Rusz, P. Strøm, J. V. Jørgensen

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference
  • 2021

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

E. Jurecki, A. Georgiadis, H. B. Lewis, J. Quinn

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Presentation

  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases
  • 2021

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

M. Kuwahara, M. Ishige, T. Ito, T. Hamazaki, R. Rowell, T. Taguchi, H. Shintaku

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Presentation

  • Congresses
  • Phenylketonuria (PKU)
  • Japanese Society for Inherited Metabolic Diseases
  • 2021

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

K. Lindstrom, S. Sacharow, H. Northrup, K. B. Whitehall, R. Rowell, B. Burton, J. Thomas

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Poster

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

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

J. Vockley, M.Z. Stuy, H. Northrup, R.T. Zori, D. Lounsbury, M. Li, J. Olbertz, H.H. Weng, J.A. Thomas

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Poster

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

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

J.A. Thomas, E. Jurecki, KB Whitehall, J. Lobertz, B. Wang, N. Longo, C.O. Harding, B. Burton, F. Rohr, S. van Calcar

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Poster

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

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

C.O. Harding, D. Bilder , J. Posner, H. Levy, O. Rosen, M. Li, J. Olbertz, H.H. Weng

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Poster

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

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

B.K. Burton, H. Northrup, R.T. Zori, J. Posner, J. Olbertz, D. Lounsbury, H.H. Weng, J. Vockley

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Poster

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

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

F. Rohr, B.K. Burton, N. Longo, J.A. Thomas, C.O. Harding, O. Rosen, Z. Gu, J. Olbertz, H.H. Weng

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Poster

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

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

C.O. Harding, H.H. Weng, J. Olbertz, K. Gu, S. Chandriani, D. Adams, A. Sanchez-Valle

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Poster

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

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

S. Waisbren, B.K. Burton, A. Feigenbaum, A. Sanchez-Valle, S.E. McCandless, J. Lilienstein, K.B. Whitehall, N. Longo

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Poster

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

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

K. Black, O. Ritchie, L. Xie, C. Cortesio, V. Agrawal, T. Christianson, M. Lo, A. Giaramita, P. Fitzpatrick, K. Gebretsadik, H. Akeefe, R. Murphy, B. Yates, N. Fredette, B. Kaplowitz, G. Pacheco, S. Bullens, P. Colosi, S. Bunting and R. Mahimkar

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Poster

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

Update on a Sponsored No-cost Epilepsy Gene Panel for Seizure Onset Between 2-4 Years of Age: Results from 682 Tests

T. Pang, F. Leal-Pardinas, M. Bailey, S. Koh, J.J. Millichap, R. Truty, E. Wirrell, S. Aradhya

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Poster

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

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

H. Northrup, B.K. Burton, R.T. Zori, J. Posner, J. Olbertz, D. Lounsbury, H.H. Weng, J. Vockley

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference
  • 2020

Dietary Intakes And Adverse Events In Pegvaliase-Treated Phenylketonuria Adults Who Had Low Blood Phenylalanine Concentrations

J. Thomas, E. Jurecki, P. Lane, J. Olbertz, A. Gershman , N. Longo, C. Harding, B. Burton; F. Rohr, S. van Calcar

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference
  • 2020

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

B. Burton, H. Northrup, R. Zori, J. Posner, J. Olbertz, D. Lounsbury, H. H. Weng, J. Vockley

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference
  • 2020

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

E. Jurecki, G. Vockley, M. Stuy, H. Northrup, R. Zori, D. Lounsbury, M. Li, J. Olbertz, H. H. Weng, J. Thomas

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Poster

  • Congresses
  • Phenylketonuria (PKU)
  • Genetic Metabolic Dietitians International Conference
  • 2020

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

S. Waisbren, B. K. Burton, A. Sanchez Valle, A. Feigenbaum, S. E. McCandless, J. Lilienstein, K. Whitehall, N. Longo

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