Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State

Melissa P. Wasserstein, Mary Andriola, Georgianne Arnold, Alan Aron, Patricia Duffner, Richard W. Erbe, Maria L. Escolar, Lissette Estrella, Patricia Galvin-Parton, Alejandro Iglesias, Denise M. Kay, David F. Kronn, Joanne Kurtzberg, Jennifer M. Kwon, Thomas J. Langan, Paul A. Levy, Thomas P. Naidich, Joseph J. Orsini, Joan E. Pellegrino, James M. ProvenzaleDavid A. Wenger, Michele Caggana

Research output: Contribution to journalArticlepeer-review

68 Scopus citations


Background:Early infantile Krabbe disease is rapidly fatal, but hematopoietic stem cell transplantation (HSCT) may improve outcomes if performed soon after birth. New York State began screening all newborns for Krabbe disease in 2006.Methods:Infants with abnormal newborn screen results for Krabbe disease were referred to specialty-care centers. Newborns found to be at high risk for Krabbe disease underwent a neurodiagnostic battery to determine the need for emergent HSCT.Results:Almost 2 million infants were screened. Five infants were diagnosed with early infantile Krabbe disease. Three died, two from HSCT-related complications and one from untreated disease. Two children who received HSCT have moderate to severe developmental delays. Forty-six currently asymptomatic children are considered to be at moderate or high risk for development of later-onset Krabbe disease.Conclusions:These results show significant HSCT-associated morbidity and mortality in early infantile Krabbe disease and raise questions about its efficacy when performed in newborns diagnosed through newborn screening. The unanticipated identification of "at risk" children introduces unique ethical and medicolegal issues. New York's experience raises questions about the risks, benefits, and practicality of screening newborns for Krabbe disease. It is imperative that objective assessments be made on an ongoing basis as additional states begin screening for this disorder.

Original languageEnglish (US)
Pages (from-to)1235-1243
Number of pages9
JournalGenetics in Medicine
Issue number12
StatePublished - Dec 1 2016


  • Globoid cell leukodystrophy
  • Krabbe disease
  • newborn screening

ASJC Scopus subject areas

  • Genetics(clinical)


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