Abstract
Original language | English |
---|---|
Pages (from-to) | 215-219 |
Number of pages | 5 |
Journal | Molecular Genetics and Metabolism |
Volume | 132 |
Issue number | 4 |
Early online date | 2021 |
DOIs | |
Publication status | Published - Apr 2021 |
Keywords
- International
- Phenylketonuria
- Survey
- Tetrahydrobiopterin
Access to Document
Other files and links
Cite this
- APA
- Author
- BIBTEX
- Harvard
- Standard
- RIS
- Vancouver
}
In: Molecular Genetics and Metabolism, Vol. 132, No. 4, 04.2021, p. 215-219.
Research output: Contribution to journal › Article › Academic › peer-review
TY - JOUR
T1 - Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries
AU - Evers, R. A. F.
AU - van Wegberg, A. M. J.
AU - Ahring, K.
AU - Beblo, S.
AU - Bélanger-Quintana, A.
AU - Bosch, A. M.
AU - Burlina, A.
AU - Campistol, J.
AU - Coskun, T.
AU - Feillet, F.
AU - Giżewska, 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.
N1 - Funding Information: RAFE has received financial support from Biomarin for attending symposia. AMJvW has received a research grant form Nutricia, honoraria from Biomarin as speaker, and travel grants from Nutricia and Vitaflo. AMB has received a speakers fee from Nutricia and has been a member of advisory boards for Biomarin. MG received honoraria and was a consultant for: Nutricia International/Danone, Merck-Serono, Mead Johnson, BioMarin and Vitaflo. JCR has been a member of the European Nutritionist Expert Panel [Biomarin], the Advisory Board for Applied Pharma Research and Nutricia, and received honoraria as a speaker from APR, Merck Serono, Biomarin, Nutricia, Vitaflo, Cambrooke, PIAM and Lifediet. FJvS is a member of scientific advisory boards for PKU and aminoacid defects that are supported by Agios, Applied Pharma Research, Arla Food Int, BioMarin, Eurocept, Homology, Lucane, Nestle-Codexis Alliance, Nutricia, orphan Europe, Rivium Medical BV, Vivet, has received research grants from Alexion, BioMarin, Beatrix Research Fund, Codexis, ESPKU, NPKUA, NPKUV, Nutricia, Sobi, Tyrosinemia Foundation, Vitaflo, ZONMW, and has received honoraria as a consultant and speaker from Applied Pharma Research, Biomarin, MendeliKABS, Nutricia, Pluvia, SoBi, and Vitaflo. AM is an advisory board member for ELEMENT, Danone-Nutricia, Arla, and Applied Pharma Research, and has received research funding and honoraria from Applied Pharma Research, Nutricia, and Vitaflo International. All other authors reported no conflicts of interest. Funding Information: We sincerely thank all healthcare professionals who participated in this survey, including James B. Gibson, MD, Bert Verhage, Dr. Mary Ann Abacan, Samantha A. Schrier Vergano, J.V. Joergensen, Yilmaz Yildiz, Beth Golden, Jamie Jocis, Marie Lefrancois, Laurie D. Smith PhD MD, Duncan, MPH, RD, Prof. Laurie Bernstein, Sylvia Stockler, Susanne Schweitzer-Krantz, Eman Megdad, Handoom B. Corrie Timmer, MC Nassogne, Annette SJ Feigenbaum, Dr. Avihu Boneh, Anita Inwood, Eiroa Hernan, Zuhair Rahbeeni, Hauro Shintaku, Burcu Kumru, Johannes H?berle, Matthias Baumgartner, Prof. Dr. Peter Witters, Giacomo Biasucci, Esther M. Maier, Patr?cia Janeiro, Mikael Oscarson, Dr. Marelli Cecilia, Arnoux Jean-Baptiste, Touati, Corne Christelle, P. Freisinger, H.A.Lemonde, Tomeuoli, Amandine Rubio, Pelin Teke Kisa, Iris Scala, Dr. Nilo Lambruschini, Mays Altai, Patrick Verloo, Stephen Cederbaum, Bozena Didycz, Brett H. Graham, M.D. Ph.D. Kathryn Moseley, PD Dr. D. Haas, Andrea Bordugo, Martin Lindner, Suresh Vijay, Eresha Jasinge, Athanasia Ziagaki, Ver?nica Cornejo, Fanny Mochel, Hui Bein Chew, Saikat Santra, Kairit Joost, P.J. Moreno Lozano, Nancy Leslie, Anibh Das, A. Cigdem Aktuglu Zeybek, David Dimmock, Imad Dweikat, Eyskens Francois, Wendy E. Smith, MD, Jean-Marc Nuoffer, Ksenija Fumi?, Svetlana Lajic, Dr. Alison Cozens, Mahmut Coker, Allan M Lund, Barth, Karit Reinson, D Holmes Morton MD, Mart?n-Hern?ndez Elena, MAEM Wagenmakers, Sarah Gr?nert, Danijela Petkovi? Ramad?a, Ilse Kern, Charlotte Dawson, Maryam Ziadlou, Stephanie Hacker, Jessica Kopesky, Nataliia Pichkur, Natalia Usurelu, Katrin Ounap, Kathleen Duddy, Martins E, Suzanne Hollander, MS, RD, Siobhan O? Sullivan, Barbara Cochrane, Charlotte Lubout, F-G. Debray, Prof dr. E. Rubio Gozalbo, Liesbeth van der Ploeg, Saadet Mercimek-Andrews, Jessica Burfield, RD, CSP, LDN,Katherine Arduini, Mar?a Gabriela Valle, Jessica Myers, Karolina M Stepien, Amy Cunningham, MS,LDN,RD, Gabor Z Racz, Dominique Roland, Gisela Wilcox, Belmatoug Nadia, Benoist JF, Szlago Marina MD, Dr. Ramses Badilla-Porras, MCH Janssen, Dr. Norma Sp?cola,Dr. Sibtain Ahmed, Aysha Habib Khan, A. Mobarak,Monika J?rg-Streller, Dr. Hani Rao, Heather Allen, Ertugrul Kiykim, Annie Rosen Heath, William Nyhan, Toshihiro Ohura, Linda Christian, BSc, Flavia Piazzon, MD, PhD, Astrinia Skarpalezou BSc, MSc, Peymaneh Sarkhail, Paula Garcia, Alexandra H?rbe-Blindt, Callum Wilson, Jiri Zeman, Sebile Kilavuz, Prof Ina Knerr, C. Hollak, and Maja Djordjevic. Publisher Copyright: © 2021 The Authors Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
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.
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.
KW - International
KW - Phenylketonuria
KW - Survey
KW - Tetrahydrobiopterin
UR - http://www.scopus.com/inward/record.url?scp=85101111937&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.ymgme.2021.01.013
DO - https://doi.org/10.1016/j.ymgme.2021.01.013
M3 - Article
C2 - 33610470
SN - 1096-7192
VL - 132
SP - 215
EP - 219
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 4
ER -