Newborn Screening for Krabbe Disease: the New York State Model

Patricia K. Duffner, Michele Caggana, Joseph J. Orsini, David A. Wenger, Marc C. Patterson, Carl J. Crosley, Joanne Kurtzberg, Georgianne L. Arnold, Maria L. Escolar, Darius J. Adams, Mary R. Andriola, Alan M. Aron, Emma Ciafaloni, Aleksandra Djukic, Richard W. Erbe, Patricia Galvin-Parton, Laura E. Helton, Edwin H. Kolodny, Barry E. Kosofsky, David F. KronnJennifer M. Kwon, Paul A. Levy, Jill Miller-Horn, Thomas P. Naidich, Joan E. Pellegrino, James M. Provenzale, Stanley J. Rothman, Melissa P. Wasserstein

Research output: Contribution to journalArticle

137 Citations (Scopus)

Abstract

Krabbe disease is a rare inherited neurologic disorder affecting the central and peripheral nervous systems. The disease has four phenotypes: early infantile, later onset, adolescent, and adult. The only known treatment is hematopoietic stem cell transplantation, which is, in the early infantile form of the disease, most beneficial if performed before onset of clinical symptoms. In August 2006, New York State began screening all newborns for Krabbe disease. A rapid and accurate technique for assessing galactocerebrosidase activity and performing DNA mutation analysis had been developed. Interpreting these results was limited, however, because neither enzyme activity nor genetic mutation reliably predicts phenotype. A series of initiatives were therefore developed by a multidisciplinary group of neurologists, geneticists, metabolic pediatricians, neurodevelopmental pediatricians, and transplant physicians (the Krabbe Consortium of New York State) to enhance the effectiveness of the newborn screening program. A standardized clinical evaluation protocol was designed based on the available literature, criteria for transplantation for the early infantile phenotype were formulated, a clinical database and registry was developed, and a study of developmental and functional outcomes was instituted. This multidisciplinary standardized approach to evaluating infants who have positive results on newborn screening may serve as a model for other states as they begin the process of screening for Krabbe disease and other lysosomal storage disorders.

Original languageEnglish (US)
Pages (from-to)245-252
Number of pages8
JournalPediatric Neurology
Volume40
Issue number4
DOIs
StatePublished - Apr 2009

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Globoid Cell Leukodystrophy
Newborn Infant
Phenotype
Galactosylceramidase
Mutation
Hematopoietic Stem Cell Transplantation
Peripheral Nervous System
Clinical Protocols
Nervous System Diseases
Registries
Central Nervous System
Transplantation
Databases
Physicians
Transplants
DNA
Enzymes
Pediatricians
Therapeutics

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Duffner, P. K., Caggana, M., Orsini, J. J., Wenger, D. A., Patterson, M. C., Crosley, C. J., ... Wasserstein, M. P. (2009). Newborn Screening for Krabbe Disease: the New York State Model. Pediatric Neurology, 40(4), 245-252. https://doi.org/10.1016/j.pediatrneurol.2008.11.010

Newborn Screening for Krabbe Disease : the New York State Model. / Duffner, Patricia K.; Caggana, Michele; Orsini, Joseph J.; Wenger, David A.; Patterson, Marc C.; Crosley, Carl J.; Kurtzberg, Joanne; Arnold, Georgianne L.; Escolar, Maria L.; Adams, Darius J.; Andriola, Mary R.; Aron, Alan M.; Ciafaloni, Emma; Djukic, Aleksandra; Erbe, Richard W.; Galvin-Parton, Patricia; Helton, Laura E.; Kolodny, Edwin H.; Kosofsky, Barry E.; Kronn, David F.; Kwon, Jennifer M.; Levy, Paul A.; Miller-Horn, Jill; Naidich, Thomas P.; Pellegrino, Joan E.; Provenzale, James M.; Rothman, Stanley J.; Wasserstein, Melissa P.

In: Pediatric Neurology, Vol. 40, No. 4, 04.2009, p. 245-252.

Research output: Contribution to journalArticle

Duffner, PK, Caggana, M, Orsini, JJ, Wenger, DA, Patterson, MC, Crosley, CJ, Kurtzberg, J, Arnold, GL, Escolar, ML, Adams, DJ, Andriola, MR, Aron, AM, Ciafaloni, E, Djukic, A, Erbe, RW, Galvin-Parton, P, Helton, LE, Kolodny, EH, Kosofsky, BE, Kronn, DF, Kwon, JM, Levy, PA, Miller-Horn, J, Naidich, TP, Pellegrino, JE, Provenzale, JM, Rothman, SJ & Wasserstein, MP 2009, 'Newborn Screening for Krabbe Disease: the New York State Model', Pediatric Neurology, vol. 40, no. 4, pp. 245-252. https://doi.org/10.1016/j.pediatrneurol.2008.11.010
Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ et al. Newborn Screening for Krabbe Disease: the New York State Model. Pediatric Neurology. 2009 Apr;40(4):245-252. https://doi.org/10.1016/j.pediatrneurol.2008.11.010
Duffner, Patricia K. ; Caggana, Michele ; Orsini, Joseph J. ; Wenger, David A. ; Patterson, Marc C. ; Crosley, Carl J. ; Kurtzberg, Joanne ; Arnold, Georgianne L. ; Escolar, Maria L. ; Adams, Darius J. ; Andriola, Mary R. ; Aron, Alan M. ; Ciafaloni, Emma ; Djukic, Aleksandra ; Erbe, Richard W. ; Galvin-Parton, Patricia ; Helton, Laura E. ; Kolodny, Edwin H. ; Kosofsky, Barry E. ; Kronn, David F. ; Kwon, Jennifer M. ; Levy, Paul A. ; Miller-Horn, Jill ; Naidich, Thomas P. ; Pellegrino, Joan E. ; Provenzale, James M. ; Rothman, Stanley J. ; Wasserstein, Melissa P. / Newborn Screening for Krabbe Disease : the New York State Model. In: Pediatric Neurology. 2009 ; Vol. 40, No. 4. pp. 245-252.
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