Newborn screening for Krabbe disease: the New York State model.
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.
Duffner
Patricia K
PK
Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA. duffner@buffalo.edu
Caggana
Michele
M
Orsini
Joseph J
JJ
Wenger
David A
DA
Patterson
Marc C
MC
Crosley
Carl J
CJ
Kurtzberg
Joanne
J
Arnold
Georgianne L
GL
Escolar
Maria L
ML
Adams
Darius J
DJ
Andriola
Mary R
MR
Aron
Alan M
AM
Ciafaloni
Emma
E
Djukic
Alexandra
A
Erbe
Richard W
RW
Galvin-Parton
Patricia
P
Helton
Laura E
LE
Kolodny
Edwin H
EH
Kosofsky
Barry E
BE
Kronn
David F
DF
Kwon
Jennifer M
JM
Levy
Paul A
PA
Miller-Horn
Jill
J
Naidich
Thomas P
TP
Pellegrino
Joan E
JE
Provenzale
James M
JM
Rothman
Stanley J
SJ
Wasserstein
Melissa P
MP
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
D005698:Galactosylceramidase