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Sex-specific newborn screening for X-linked adrenoleukodystrophy. / Albersen, Monique; van der Beek, Samantha L.; Dijkstra, Inge M. E. et al.

In: Journal of inherited metabolic disease, Vol. 46, No. 1, 17.01.2023, p. 116-128.

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Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J et al. Sex-specific newborn screening for X-linked adrenoleukodystrophy. Journal of inherited metabolic disease. 2023 Jan 17;46(1):116-128. Epub 2022 Oct 18. doi: 10.1002/jimd.12571

Author

Albersen, Monique ; van der Beek, Samantha L. ; Dijkstra, Inge M. E. et al. / Sex-specific newborn screening for X-linked adrenoleukodystrophy. In: Journal of inherited metabolic disease. 2023 ; Vol. 46, No. 1. pp. 116-128.

BibTeX

@article{c668bb7403b94b62b7523603c6a9a9b5,
title = "Sex-specific newborn screening for X-linked adrenoleukodystrophy",
abstract = "Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long-chain fatty acids (VLCFA), including C26:0-lysophosphatidylcholine (C26:0-LPC). Newborn screening for ALD enables prospective monitoring and timely therapeutic intervention, thereby preventing irreversible damage and saving lives. The Dutch Health Council recommended to screen only male newborns for ALD without identifying untreatable conditions associated with elevated C26:0-LPC, like Zellweger spectrum disorders and single peroxisomal enzyme defects. Here, we present the results of the SCAN (Screening for ALD in the Netherlands) study which is the first sex-specific newborn screening program worldwide. Males with ALD are identified based on elevated C26:0-LPC levels, the presence of one X-chromosome and a variant in ABCD1, in heel prick dried bloodspots. Screening of 71 208 newborns resulted in the identification of four boys with ALD who, following referral to the pediatric neurologist and confirmation of the diagnosis, enrolled in a long-term follow-up program. The results of this pilot show the feasibility of employing a boys-only screening algorithm that identifies males with ALD without identifying untreatable conditions. This approach will be of interest to countries that are considering ALD newborn screening but are reluctant to identify girls with ALD because for girls there is no direct health benefit. We also analyzed whether gestational age, sex, birth weight and age at heel prick blood sampling affect C26:0-LPC concentrations and demonstrate that these covariates have a minimal effect.",
keywords = "ABCD1, C26:0-LPC, X-chromosome, adrenoleukodystrophy, dried bloodspots, heel prick, newborn screening, sex-specific",
author = "Monique Albersen and {van der Beek}, {Samantha L.} and Dijkstra, {Inge M. E.} and Mari{\"e}lle Alders and Barendsen, {Rinse W.} and Jet Bliek and Anita Boelen and Ebberink, {Merel S.} and Sacha Ferdinandusse and Goorden, {Susan M. I.} and Heijboer, {Annemieke C.} and Mandy Jansen and Jaspers, {Yorrick R. J.} and Ingrid Metgod and Salomons, {Gajja S.} and Vaz, {Fr{\'e}d{\'e}ric M.} and Verschoof-Puite, {Rendelien K.} and Visser, {Wouter F.} and Eug{\`e}nie Dekkers and Marc Engelen and Stephan Kemp",
note = "Funding Information: The authors are grateful to all parents for their willingness to participate in the ALD pilot; to the members of our guidance committee for their advice in the SCAN study: M. C. de Vries (Leids UMC), M. Willemsen (Radboud UMC), S. N. van der Crabben, A. P. van Trotsenburg, F. A. Wijburg (Amsterdam UMC), L. A. van de Kuil (RIVM); to our colleagues in the participating laboratories for technical assistance: Fatima Asidah, Michel Berens, Kevin Blom, Marelle Bouva, Naere Ghazarian, Jessica Glebbeek-Cobelens, Joyce Graafland, Janet Haasjes, Gerard Hansman, Sander de Jong, Henk van Lenthe, Lia van Lint, Karin van der Lip, Petra Mooyer, Maureen Papilaja-Rahanra, Edo de Poorter, Hester Rijpkema, Henny Rusch, Faranak Salehi, Jorg Sander, Patricia Schmidt, Elise van der Sluijs, Martin Vervaart, Marja van Veen-Sijne, Wendy Zwart-Oostheim; to Petra Oomen for help with the covariate data collection; and to Metakids for their continued interest and public support of the study. Funding Information: Monique Albersen, Samantha van der Beek, Inge Dijkstra, Mari{\"e}lle Alders, Rinse Barendsen, Jet Bliek, Anita Boelen, Merel Ebberink, Sacha Ferdinandusse, Susan Goorden, Annemieke Heijboer, Mandy Jansen, Yorrick Jaspers, Ingrid Metgod, Gajja Salomons, Rendelien Verschoof‐Puite, Wouter Visser, and Eug{\`e}nie Dekkers declare that they have no conflict of interest. Fr{\'e}d{\'e}ric Vaz has received consulting fees from Scenic Biotech outside the submitted work. Marc Engelen has received unrestricted research grants from Minoryx, SwanBio Therapeutics, Bluebird Bio, and AutoBahn Therapeutics separate from the submitted work; has received consulting fees from Minoryx, Swanbio Therapeutics, Bluebird Bio, AutoBahn Therapeutics, and Poxel for scientific advising outside the submitted work; participates in advisory board the United Leukodystrophy Foundation (unpaid). Stephan Kemp has received unrestricted research grant support from Bluebird Bio and Swanbio Therapeutics separate from the submitted work; has received consulting fees from Poxel and Swanbio Therapeutics for scientific advising outside the submitted work; participates in advisory boards for ALD Connect (unpaid), the European Leukodystrophy Association (unpaid), Alex, The Leukodystrophy Charity (unpaid), and the United Leukodystrophy Foundation (unpaid). Funding Information: The SCAN study is funded by the Netherlands Organization for Health, Research and Development (ZonMw), project number 543002004 to Stephan Kemp. Publisher Copyright: {\textcopyright} 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.",
year = "2023",
month = jan,
day = "17",
doi = "10.1002/jimd.12571",
language = "English",
volume = "46",
pages = "116--128",
journal = "Journal of inherited metabolic disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "1",

}

RIS

TY - JOUR

T1 - Sex-specific newborn screening for X-linked adrenoleukodystrophy

AU - Albersen, Monique

AU - van der Beek, Samantha L.

AU - Dijkstra, Inge M. E.

AU - Alders, Mariëlle

AU - Barendsen, Rinse W.

AU - Bliek, Jet

AU - Boelen, Anita

AU - Ebberink, Merel S.

AU - Ferdinandusse, Sacha

AU - Goorden, Susan M. I.

AU - Heijboer, Annemieke C.

AU - Jansen, Mandy

AU - Jaspers, Yorrick R. J.

AU - Metgod, Ingrid

AU - Salomons, Gajja S.

AU - Vaz, Frédéric M.

AU - Verschoof-Puite, Rendelien K.

AU - Visser, Wouter F.

AU - Dekkers, Eugènie

AU - Engelen, Marc

AU - Kemp, Stephan

N1 - Funding Information: The authors are grateful to all parents for their willingness to participate in the ALD pilot; to the members of our guidance committee for their advice in the SCAN study: M. C. de Vries (Leids UMC), M. Willemsen (Radboud UMC), S. N. van der Crabben, A. P. van Trotsenburg, F. A. Wijburg (Amsterdam UMC), L. A. van de Kuil (RIVM); to our colleagues in the participating laboratories for technical assistance: Fatima Asidah, Michel Berens, Kevin Blom, Marelle Bouva, Naere Ghazarian, Jessica Glebbeek-Cobelens, Joyce Graafland, Janet Haasjes, Gerard Hansman, Sander de Jong, Henk van Lenthe, Lia van Lint, Karin van der Lip, Petra Mooyer, Maureen Papilaja-Rahanra, Edo de Poorter, Hester Rijpkema, Henny Rusch, Faranak Salehi, Jorg Sander, Patricia Schmidt, Elise van der Sluijs, Martin Vervaart, Marja van Veen-Sijne, Wendy Zwart-Oostheim; to Petra Oomen for help with the covariate data collection; and to Metakids for their continued interest and public support of the study. Funding Information: Monique Albersen, Samantha van der Beek, Inge Dijkstra, Mariëlle Alders, Rinse Barendsen, Jet Bliek, Anita Boelen, Merel Ebberink, Sacha Ferdinandusse, Susan Goorden, Annemieke Heijboer, Mandy Jansen, Yorrick Jaspers, Ingrid Metgod, Gajja Salomons, Rendelien Verschoof‐Puite, Wouter Visser, and Eugènie Dekkers declare that they have no conflict of interest. Frédéric Vaz has received consulting fees from Scenic Biotech outside the submitted work. Marc Engelen has received unrestricted research grants from Minoryx, SwanBio Therapeutics, Bluebird Bio, and AutoBahn Therapeutics separate from the submitted work; has received consulting fees from Minoryx, Swanbio Therapeutics, Bluebird Bio, AutoBahn Therapeutics, and Poxel for scientific advising outside the submitted work; participates in advisory board the United Leukodystrophy Foundation (unpaid). Stephan Kemp has received unrestricted research grant support from Bluebird Bio and Swanbio Therapeutics separate from the submitted work; has received consulting fees from Poxel and Swanbio Therapeutics for scientific advising outside the submitted work; participates in advisory boards for ALD Connect (unpaid), the European Leukodystrophy Association (unpaid), Alex, The Leukodystrophy Charity (unpaid), and the United Leukodystrophy Foundation (unpaid). Funding Information: The SCAN study is funded by the Netherlands Organization for Health, Research and Development (ZonMw), project number 543002004 to Stephan Kemp. Publisher Copyright: © 2022 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

PY - 2023/1/17

Y1 - 2023/1/17

N2 - Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long-chain fatty acids (VLCFA), including C26:0-lysophosphatidylcholine (C26:0-LPC). Newborn screening for ALD enables prospective monitoring and timely therapeutic intervention, thereby preventing irreversible damage and saving lives. The Dutch Health Council recommended to screen only male newborns for ALD without identifying untreatable conditions associated with elevated C26:0-LPC, like Zellweger spectrum disorders and single peroxisomal enzyme defects. Here, we present the results of the SCAN (Screening for ALD in the Netherlands) study which is the first sex-specific newborn screening program worldwide. Males with ALD are identified based on elevated C26:0-LPC levels, the presence of one X-chromosome and a variant in ABCD1, in heel prick dried bloodspots. Screening of 71 208 newborns resulted in the identification of four boys with ALD who, following referral to the pediatric neurologist and confirmation of the diagnosis, enrolled in a long-term follow-up program. The results of this pilot show the feasibility of employing a boys-only screening algorithm that identifies males with ALD without identifying untreatable conditions. This approach will be of interest to countries that are considering ALD newborn screening but are reluctant to identify girls with ALD because for girls there is no direct health benefit. We also analyzed whether gestational age, sex, birth weight and age at heel prick blood sampling affect C26:0-LPC concentrations and demonstrate that these covariates have a minimal effect.

AB - Males with X-linked adrenoleukodystrophy (ALD) are at high risk for developing adrenal insufficiency and/or progressive leukodystrophy (cerebral ALD) at an early age. Pathogenic variants in ABCD1 result in elevated levels of very long-chain fatty acids (VLCFA), including C26:0-lysophosphatidylcholine (C26:0-LPC). Newborn screening for ALD enables prospective monitoring and timely therapeutic intervention, thereby preventing irreversible damage and saving lives. The Dutch Health Council recommended to screen only male newborns for ALD without identifying untreatable conditions associated with elevated C26:0-LPC, like Zellweger spectrum disorders and single peroxisomal enzyme defects. Here, we present the results of the SCAN (Screening for ALD in the Netherlands) study which is the first sex-specific newborn screening program worldwide. Males with ALD are identified based on elevated C26:0-LPC levels, the presence of one X-chromosome and a variant in ABCD1, in heel prick dried bloodspots. Screening of 71 208 newborns resulted in the identification of four boys with ALD who, following referral to the pediatric neurologist and confirmation of the diagnosis, enrolled in a long-term follow-up program. The results of this pilot show the feasibility of employing a boys-only screening algorithm that identifies males with ALD without identifying untreatable conditions. This approach will be of interest to countries that are considering ALD newborn screening but are reluctant to identify girls with ALD because for girls there is no direct health benefit. We also analyzed whether gestational age, sex, birth weight and age at heel prick blood sampling affect C26:0-LPC concentrations and demonstrate that these covariates have a minimal effect.

KW - ABCD1

KW - C26:0-LPC

KW - X-chromosome

KW - adrenoleukodystrophy

KW - dried bloodspots

KW - heel prick

KW - newborn screening

KW - sex-specific

UR - http://www.scopus.com/inward/record.url?scp=85140384809&partnerID=8YFLogxK

U2 - 10.1002/jimd.12571

DO - 10.1002/jimd.12571

M3 - Article

C2 - 36256460

VL - 46

SP - 116

EP - 128

JO - Journal of inherited metabolic disease

JF - Journal of inherited metabolic disease

SN - 0141-8955

IS - 1

ER -

ID: 26512910