Newborn screening for Krabbe disease: the New York State model.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • April 2009

Published In

Volume / Issue

  • 40 / 4

Start / End Page

  • 245 - 252

PubMed ID

  • 19302934

Pubmed Central ID

  • 19302934

International Standard Serial Number (ISSN)

  • 0887-8994

Digital Object Identifier (DOI)

  • 10.1016/j.pediatrneurol.2008.11.010

Language

  • eng

Conference Location

  • United States