Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease

Robert Thompson-Stone; Margie A. Ream; Michael Gelb; Dietrich Matern; Joseph J. Orsini; Paul A. Levy; Jennifer P. Rubin; David A. Wenger; Barbara K. Burton; Maria L. Escolar; Joanne Kurtzberg

doi:10.1016/j.ymgme.2021.03.016

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease

Robert Thompson-Stone^*, Margie A. Ream, Michael Gelb, Dietrich Matern, Joseph J. Orsini, Paul A. Levy, Jennifer P. Rubin, David A. Wenger, Barbara K. Burton, Maria L. Escolar, Joanne Kurtzberg

^*Corresponding author for this work

Pediatrics

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

17 Scopus citations

Abstract

Objective: To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD). Methods: KD experts (KD NBS Council) met between July 2017 and June 2020 to develop consensus-based classification and follow-up recommendations. The resulting newly proposed recommendations were assessed in a historical cohort of 47 newborns from New York State who were originally classified at moderate or high risk for LOKD. Results: Infants identified by newborn screening with possible KD should enter one of three clinical follow-up pathways (Early infantile KD, at-risk for LOKD, or unaffected), based on galactocerebrosidase (GALC) activity, psychosine concentration, and GALC genotype. Patients considered at-risk for LOKD based on low GALC activity and an intermediate psychosine concentration are further split into a high-risk or low-risk follow-up pathway based on genotype. Review of the historical New York State cohort found that the updated follow-up recommendations would reduce follow up testing by 88%. Conclusion: The KD NBS Council has presented updated consensus recommendations for efficient and effective classification and follow-up of NBS positive patients with a focus on long-term follow-up of those at-risk for LOKD.

Original language	English (US)
Pages (from-to)	53-59
Number of pages	7
Journal	Molecular Genetics and Metabolism
Volume	134
Issue number	1-2
DOIs	https://doi.org/10.1016/j.ymgme.2021.03.016
State	Published - Sep 1 2021

Funding

The study authors would like to acknowledge Anna Grantham, and the Leukodystrophy Care Network and Hunter's Hope Foundation for arranging the Krabbe NBS Council and facilitating the guidelines discussion meetings. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. Robert Thompson Stone, MD: None. Margie A. Ream, MD: A member of the Evidence Review Group for the Advisory Committee on Heritable Disorders in Newborns and Children. The views expressed herein are solely those of the authors and do not necessarily reflect the views of the Advisory Committee on Heritable Disorders in Newborns and Children, or the members of the Evidence Review Group. Michael Gelb, PhD: Consultant for PerkinElmer Inc. Dietrich Matern, MD, PhD: None. Joseph J. Orsini, PhD: None. Paul A. Levy, MD: None. Jennifer P. Rubin, MD: None. David A. Wenger, PhD: None. Barbara K. Burton, MD: Has received consulting fees and/or honoraria from Biomarin, Shire (Takeda), Sanofi Genzyme, Horizon, Alexion, Moderna, Denali, JCR Pharma, Aeglea, Inventiva and Ultragenyx. She has conducted clinical trials funded by Biomarin, Shire (Takeda), Ultragenyx, Sangamo and Homology Medicines. Maria L. Escolar, MD: Advisory Boards Orphazyme, Shire/Takeda. Consulting Fees, Sanofi, AvroBio, JCR. Contracted Research Abeona, Prevail, Denali, Shire/Takeda, Regenxbio. Salary/Ownership Interest greater than 5%, Forge Biologics, Chief Medical Officer. Speaker's Bureau and Travel Expenses Shire/Takeda, Sanofi. Joanne Kurtzberg, MD: None. Barbara K. Burton, MD: Has received consulting fees and/or honoraria from Biomarin, Shire (Takeda), Sanofi Genzyme, Horizon, Alexion, Moderna, Denali, JCR Pharma, Aeglea, Inventiva and Ultragenyx. She has conducted clinical trials funded by Biomarin, Shire (Takeda), Ultragenyx, Sangamo and Homology Medicines.

Keywords

Follow-up
Galactocerebrosidase
Krabbe Disease
Newborn screening
Psychosine

ASJC Scopus subject areas

Genetics
Endocrinology
Molecular Biology
Biochemistry
Endocrinology, Diabetes and Metabolism

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Thompson-Stone, R., Ream, M. A., Gelb, M., Matern, D., Orsini, J. J., Levy, P. A., Rubin, J. P., Wenger, D. A., Burton, B. K., Escolar, M. L., & Kurtzberg, J. (2021). Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. Molecular Genetics and Metabolism, 134(1-2), 53-59. https://doi.org/10.1016/j.ymgme.2021.03.016

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title = "Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease",

abstract = "Objective: To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD). Methods: KD experts (KD NBS Council) met between July 2017 and June 2020 to develop consensus-based classification and follow-up recommendations. The resulting newly proposed recommendations were assessed in a historical cohort of 47 newborns from New York State who were originally classified at moderate or high risk for LOKD. Results: Infants identified by newborn screening with possible KD should enter one of three clinical follow-up pathways (Early infantile KD, at-risk for LOKD, or unaffected), based on galactocerebrosidase (GALC) activity, psychosine concentration, and GALC genotype. Patients considered at-risk for LOKD based on low GALC activity and an intermediate psychosine concentration are further split into a high-risk or low-risk follow-up pathway based on genotype. Review of the historical New York State cohort found that the updated follow-up recommendations would reduce follow up testing by 88%. Conclusion: The KD NBS Council has presented updated consensus recommendations for efficient and effective classification and follow-up of NBS positive patients with a focus on long-term follow-up of those at-risk for LOKD.",

keywords = "Follow-up, Galactocerebrosidase, Krabbe Disease, Newborn screening, Psychosine",

author = "Robert Thompson-Stone and Ream, {Margie A.} and Michael Gelb and Dietrich Matern and Orsini, {Joseph J.} and Levy, {Paul A.} and Rubin, {Jennifer P.} and Wenger, {David A.} and Burton, {Barbara K.} and Escolar, {Maria L.} and Joanne Kurtzberg",

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doi = "10.1016/j.ymgme.2021.03.016",

language = "English (US)",

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Thompson-Stone, R, Ream, MA, Gelb, M, Matern, D, Orsini, JJ, Levy, PA, Rubin, JP, Wenger, DA, Burton, BK, Escolar, ML & Kurtzberg, J 2021, 'Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease', Molecular Genetics and Metabolism, vol. 134, no. 1-2, pp. 53-59. https://doi.org/10.1016/j.ymgme.2021.03.016

TY - JOUR

T1 - Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease

AU - Thompson-Stone, Robert

AU - Ream, Margie A.

AU - Gelb, Michael

AU - Matern, Dietrich

AU - Orsini, Joseph J.

AU - Levy, Paul A.

AU - Rubin, Jennifer P.

AU - Wenger, David A.

AU - Burton, Barbara K.

AU - Escolar, Maria L.

AU - Kurtzberg, Joanne

PY - 2021/9/1

Y1 - 2021/9/1

N2 - Objective: To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD). Methods: KD experts (KD NBS Council) met between July 2017 and June 2020 to develop consensus-based classification and follow-up recommendations. The resulting newly proposed recommendations were assessed in a historical cohort of 47 newborns from New York State who were originally classified at moderate or high risk for LOKD. Results: Infants identified by newborn screening with possible KD should enter one of three clinical follow-up pathways (Early infantile KD, at-risk for LOKD, or unaffected), based on galactocerebrosidase (GALC) activity, psychosine concentration, and GALC genotype. Patients considered at-risk for LOKD based on low GALC activity and an intermediate psychosine concentration are further split into a high-risk or low-risk follow-up pathway based on genotype. Review of the historical New York State cohort found that the updated follow-up recommendations would reduce follow up testing by 88%. Conclusion: The KD NBS Council has presented updated consensus recommendations for efficient and effective classification and follow-up of NBS positive patients with a focus on long-term follow-up of those at-risk for LOKD.

AB - Objective: To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD). Methods: KD experts (KD NBS Council) met between July 2017 and June 2020 to develop consensus-based classification and follow-up recommendations. The resulting newly proposed recommendations were assessed in a historical cohort of 47 newborns from New York State who were originally classified at moderate or high risk for LOKD. Results: Infants identified by newborn screening with possible KD should enter one of three clinical follow-up pathways (Early infantile KD, at-risk for LOKD, or unaffected), based on galactocerebrosidase (GALC) activity, psychosine concentration, and GALC genotype. Patients considered at-risk for LOKD based on low GALC activity and an intermediate psychosine concentration are further split into a high-risk or low-risk follow-up pathway based on genotype. Review of the historical New York State cohort found that the updated follow-up recommendations would reduce follow up testing by 88%. Conclusion: The KD NBS Council has presented updated consensus recommendations for efficient and effective classification and follow-up of NBS positive patients with a focus on long-term follow-up of those at-risk for LOKD.

KW - Follow-up

KW - Galactocerebrosidase

KW - Krabbe Disease

KW - Newborn screening

KW - Psychosine

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DO - 10.1016/j.ymgme.2021.03.016

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SN - 1096-7192

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ER -

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease

Abstract

Funding

Keywords

ASJC Scopus subject areas

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