TY - JOUR
T1 - Newborn Screening for Krabbe Disease
T2 - the New York State Model
AU - Duffner, Patricia K.
AU - Caggana, Michele
AU - Orsini, Joseph J.
AU - Wenger, David A.
AU - Patterson, Marc C.
AU - Crosley, Carl J.
AU - Kurtzberg, Joanne
AU - Arnold, Georgianne L.
AU - Escolar, Maria L.
AU - Adams, Darius J.
AU - Andriola, Mary R.
AU - Aron, Alan M.
AU - Ciafaloni, Emma
AU - Djukic, Alexandra
AU - Erbe, Richard W.
AU - Galvin-Parton, Patricia
AU - Helton, Laura E.
AU - Kolodny, Edwin H.
AU - Kosofsky, Barry E.
AU - Kronn, David F.
AU - Kwon, Jennifer M.
AU - Levy, Paul A.
AU - Miller-Horn, Jill
AU - Naidich, Thomas P.
AU - Pellegrino, Joan E.
AU - Provenzale, James M.
AU - Rothman, Stanley J.
AU - Wasserstein, Melissa P.
N1 - Funding Information:
The Hunter James Kelly Research Institute, the clinical database and registry, and the meetings of the Krabbe Consortium of New York State are supported by grants from the Hunter's Hope Foundation and the U.S. Department of Health and Human Services, Health Resources and Services Administration, Maternal and Child Health Bureau (grant number H1TMC10605). The developmental and functional phone-based interview study is supported by the Children's Guild Foundation of Buffalo. D.A.W.'s research is supported in part by a grant from the National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases (2R01DK038795-20A2).
PY - 2009/4
Y1 - 2009/4
N2 - 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.
AB - 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.
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U2 - 10.1016/j.pediatrneurol.2008.11.010
DO - 10.1016/j.pediatrneurol.2008.11.010
M3 - Review article
C2 - 19302934
AN - SCOPUS:62349139085
SN - 0887-8994
VL - 40
SP - 245
EP - 252
JO - Pediatric Neurology
JF - Pediatric Neurology
IS - 4
ER -