Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
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2021-09
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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.Type
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Thompson-Stone, Robert, Margie A Ream, Michael Gelb, Dietrich Matern, Joseph J Orsini, Paul A Levy, Jennifer P Rubin, David A Wenger, et al. (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). pp. 53–59. 10.1016/j.ymgme.2021.03.016 Retrieved from https://hdl.handle.net/10161/24703.
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