title: Newborn screening for Krabbe disease: the New York State model.
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.
authors.affiliation: Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA. duffner@buffalo.edu
authors.forename: Patricia K
authors.initials: PK
authors.lastname: Duffner
authors.forename: Michele
authors.initials: M
authors.lastname: Caggana
authors.forename: Joseph J
authors.initials: JJ
authors.lastname: Orsini
authors.forename: David A
authors.initials: DA
authors.lastname: Wenger
authors.forename: Marc C
authors.initials: MC
authors.lastname: Patterson
authors.forename: Carl J
authors.initials: CJ
authors.lastname: Crosley
authors.forename: Joanne
authors.initials: J
authors.lastname: Kurtzberg
authors.forename: Georgianne L
authors.initials: GL
authors.lastname: Arnold
authors.forename: Maria L
authors.initials: ML
authors.lastname: Escolar
authors.forename: Darius J
authors.initials: DJ
authors.lastname: Adams
authors.forename: Mary R
authors.initials: MR
authors.lastname: Andriola
authors.forename: Alan M
authors.initials: AM
authors.lastname: Aron
authors.forename: Emma
authors.initials: E
authors.lastname: Ciafaloni
authors.forename: Alexandra
authors.initials: A
authors.lastname: Djukic
authors.forename: Richard W
authors.initials: RW
authors.lastname: Erbe
authors.forename: Patricia
authors.initials: P
authors.lastname: Galvin-Parton
authors.forename: Laura E
authors.initials: LE
authors.lastname: Helton
authors.forename: Edwin H
authors.initials: EH
authors.lastname: Kolodny
authors.forename: Barry E
authors.initials: BE
authors.lastname: Kosofsky
authors.forename: David F
authors.initials: DF
authors.lastname: Kronn
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Kwon
authors.forename: Paul A
authors.initials: PA
authors.lastname: Levy
authors.forename: Jill
authors.initials: J
authors.lastname: Miller-Horn
authors.forename: Thomas P
authors.initials: TP
authors.lastname: Naidich
authors.forename: Joan E
authors.initials: JE
authors.lastname: Pellegrino
authors.forename: James M
authors.initials: JM
authors.lastname: Provenzale
authors.forename: Stanley J
authors.initials: SJ
authors.lastname: Rothman
authors.forename: Melissa P
authors.initials: MP
authors.lastname: Wasserstein
mesh_terms: D004252:DNA Mutational Analysis; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005074:Evoked Potentials, Visual / Q000502:physiology; D005500:Follow-Up Studies; D005698:Galactosylceramidase / Q000032:analysis / Q000378:metabolism; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007231:Infant, Newborn; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D008279:Magnetic Resonance Imaging; D017146:Models, Organizational; D015997:Neonatal Screening / Q000458:organization & administration* / Q000592:standards*; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D009518:New York; D012017:Referral and Consultation; D018570:Risk Assessment; D016896:Treatment Outcome
chemical_list: D005698:Galactosylceramidase