Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

R. A. F. Evers; A. M. J. van Wegberg; K. Ahring; S. Beblo; A. Belanger-Quintana; A. M. Bosch; A. Burlina; J. Campistol; T. Coskun; F. Feillet; M. Gizewska; S. C. J. Huijbregts; S. Kearney; M. Langeveld; V. Leuzzi; F. Maillot; A. C. Muntau; J. C. Rocha; C. Romani; F. K. Trefz; A. MacDonald; F. J. van Spronsen

doi:10.1016/j.ymgme.2021.01.013

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

R. A. F. Evers, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Belanger-Quintana, A. M. Bosch, A. Burlina, J. Campistol, T. Coskun, F. Feillet, M. Gizewska, S. C. J. Huijbregts, S. Kearney, M. Langeveld, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. K. TrefzA. MacDonald, F. J. van Spronsen^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world.

Methods: We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients. Data were analysed according to geographical region (Europe, USA/Canada, other).

Results: We analysed 166 responses. Long-term BH4 responsiveness was commonly defined using natural protein tolerance (95.6%), improvement of metabolic control (73.5%) and increase in quality of life (48.2%). When a specific value for a reduction in phenylalanine concentrations was reported (n = 89), 30% and 20% were most frequently used as cut-off values (76% and 19% of respondents, respectively). When a specific relative increase in natural protein tolerance was used to define long-term BH4 responsiveness (n = 71), respondents most commonly reported cut-off values of 30% and 100% (28% of respondents in both cases). Respondents from USA/Canada (n = 50) generally used less strict cut-off values compared to Europe (n = 96). Furthermore, respondents working within the same center answered differently.

Conclusion: The results of this study suggest a very heterogeneous situation on the topic of defining long-term BH4 responsiveness, not only at a worldwide level but also within centers. Developing a strong evidence- and consensus-based definition would improve the quality of BH4 treatment. (c) 2021 The Authors. Published by Elsevier Inc.

Original language	English
Pages (from-to)	215-219
Number of pages	5
Journal	Molecular Genetics and Metabolism
Volume	132
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2021.01.013
Publication status	Published - Apr-2021

Keywords

Phenylketonuria
Tetrahydrobiopterin
Survey
International

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Evers, R. A. F., van Wegberg, A. M. J., Ahring, K., Beblo, S., Belanger-Quintana, A., Bosch, A. M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Gizewska, M., Huijbregts, S. C. J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., ... van Spronsen, F. J. (2021). Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries. Molecular Genetics and Metabolism, 132(4), 215-219. https://doi.org/10.1016/j.ymgme.2021.01.013

@article{5937b96ccd554631a185563f533c7e37,

title = "Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries",

abstract = "Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world.Methods: We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients. Data were analysed according to geographical region (Europe, USA/Canada, other).Results: We analysed 166 responses. Long-term BH4 responsiveness was commonly defined using natural protein tolerance (95.6%), improvement of metabolic control (73.5%) and increase in quality of life (48.2%). When a specific value for a reduction in phenylalanine concentrations was reported (n = 89), 30% and 20% were most frequently used as cut-off values (76% and 19% of respondents, respectively). When a specific relative increase in natural protein tolerance was used to define long-term BH4 responsiveness (n = 71), respondents most commonly reported cut-off values of 30% and 100% (28% of respondents in both cases). Respondents from USA/Canada (n = 50) generally used less strict cut-off values compared to Europe (n = 96). Furthermore, respondents working within the same center answered differently.Conclusion: The results of this study suggest a very heterogeneous situation on the topic of defining long-term BH4 responsiveness, not only at a worldwide level but also within centers. Developing a strong evidence- and consensus-based definition would improve the quality of BH4 treatment. (c) 2021 The Authors. Published by Elsevier Inc.",

keywords = "Phenylketonuria, Tetrahydrobiopterin, Survey, International",

author = "Evers, {R. A. F.} and {van Wegberg}, {A. M. J.} and K. Ahring and S. Beblo and A. Belanger-Quintana and Bosch, {A. M.} and A. Burlina and J. Campistol and T. Coskun and F. Feillet and M. Gizewska and Huijbregts, {S. C. J.} and S. Kearney and M. Langeveld and V. Leuzzi and F. Maillot and Muntau, {A. C.} and Rocha, {J. C.} and C. Romani and Trefz, {F. K.} and A. MacDonald and {van Spronsen}, {F. J.}",

year = "2021",

month = apr,

doi = "10.1016/j.ymgme.2021.01.013",

language = "English",

volume = "132",

pages = "215--219",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "ACADEMIC PRESS INC ELSEVIER SCIENCE",

number = "4",

}

Evers, RAF , van Wegberg, AMJ, Ahring, K, Beblo, S, Belanger-Quintana, A, Bosch, AM, Burlina, A, Campistol, J, Coskun, T, Feillet, F, Gizewska, M, Huijbregts, SCJ, Kearney, S, Langeveld, M, Leuzzi, V, Maillot, F, Muntau, AC, Rocha, JC, Romani, C, Trefz, FK, MacDonald, A & van Spronsen, FJ 2021, 'Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries', Molecular Genetics and Metabolism, vol. 132, no. 4, pp. 215-219. https://doi.org/10.1016/j.ymgme.2021.01.013

TY - JOUR

T1 - Defining tetrahydrobiopterin responsiveness in phenylketonuria

T2 - Survey results from 38 countries

AU - Evers, R. A. F.

AU - van Wegberg, A. M. J.

AU - Ahring, K.

AU - Beblo, S.

AU - Belanger-Quintana, A.

AU - Bosch, A. M.

AU - Burlina, A.

AU - Campistol, J.

AU - Coskun, T.

AU - Feillet, F.

AU - Gizewska, M.

AU - Huijbregts, S. C. J.

AU - Kearney, S.

AU - Langeveld, M.

AU - Leuzzi, V.

AU - Maillot, F.

AU - Muntau, A. C.

AU - Rocha, J. C.

AU - Romani, C.

AU - Trefz, F. K.

AU - MacDonald, A.

AU - van Spronsen, F. J.

PY - 2021/4

Y1 - 2021/4

N2 - Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world.Methods: We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients. Data were analysed according to geographical region (Europe, USA/Canada, other).Results: We analysed 166 responses. Long-term BH4 responsiveness was commonly defined using natural protein tolerance (95.6%), improvement of metabolic control (73.5%) and increase in quality of life (48.2%). When a specific value for a reduction in phenylalanine concentrations was reported (n = 89), 30% and 20% were most frequently used as cut-off values (76% and 19% of respondents, respectively). When a specific relative increase in natural protein tolerance was used to define long-term BH4 responsiveness (n = 71), respondents most commonly reported cut-off values of 30% and 100% (28% of respondents in both cases). Respondents from USA/Canada (n = 50) generally used less strict cut-off values compared to Europe (n = 96). Furthermore, respondents working within the same center answered differently.Conclusion: The results of this study suggest a very heterogeneous situation on the topic of defining long-term BH4 responsiveness, not only at a worldwide level but also within centers. Developing a strong evidence- and consensus-based definition would improve the quality of BH4 treatment. (c) 2021 The Authors. Published by Elsevier Inc.

AB - Background: A subset of patients with phenylketonuria benefit from treatment with tetrahydrobiopterin (BH4), although there is no consensus on the definition of BH4 responsiveness. The aim of this study therefore was to gain insight into the definitions of long-term BH4 responsiveness being used around the world.Methods: We performed a web-based survey targeting healthcare professionals involved in the treatment of PKU patients. Data were analysed according to geographical region (Europe, USA/Canada, other).Results: We analysed 166 responses. Long-term BH4 responsiveness was commonly defined using natural protein tolerance (95.6%), improvement of metabolic control (73.5%) and increase in quality of life (48.2%). When a specific value for a reduction in phenylalanine concentrations was reported (n = 89), 30% and 20% were most frequently used as cut-off values (76% and 19% of respondents, respectively). When a specific relative increase in natural protein tolerance was used to define long-term BH4 responsiveness (n = 71), respondents most commonly reported cut-off values of 30% and 100% (28% of respondents in both cases). Respondents from USA/Canada (n = 50) generally used less strict cut-off values compared to Europe (n = 96). Furthermore, respondents working within the same center answered differently.Conclusion: The results of this study suggest a very heterogeneous situation on the topic of defining long-term BH4 responsiveness, not only at a worldwide level but also within centers. Developing a strong evidence- and consensus-based definition would improve the quality of BH4 treatment. (c) 2021 The Authors. Published by Elsevier Inc.

KW - Phenylketonuria

KW - Tetrahydrobiopterin

KW - Survey

KW - International

U2 - 10.1016/j.ymgme.2021.01.013

DO - 10.1016/j.ymgme.2021.01.013

M3 - Article

SN - 1096-7192

VL - 132

SP - 215

EP - 219

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 4

ER -

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

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