Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Abstract
BACKGROUND:Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency
of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be
treated at a presymptomatic stage with human stem cell transplantation which improves
survival and clinical outcomes. However, without a family history, most cases of infantile
Krabbe disease present after onset of symptoms and are ineligible for transplantation.
In 2006, New York began screening newborns for Krabbe disease to identify presymptomatic
cases. To ensure that those identified with infantile disease received timely treatment,
New York public health and medical systems took steps to accurately diagnose and rapidly
refer infants for human stem cell transplantation within the first few weeks of life.
After 11 years of active screening in New York and the introduction of Krabbe disease
newborn screening in other states, new information has been gained which can inform
the design of newborn screening programs to improve infantile Krabbe disease outcomes.
FINDINGS:Recent information relevant to Krabbe disease screening, diagnosis, and treatment
were assessed by a diverse group of public health, medical, and advocacy professionals.
Outcomes after newborn screening may improve if treatment for infantile disease is
initiated before 30 days of life. Newer laboratory screening and diagnostic tools
can improve the speed and specificity of diagnosis and help facilitate this early
referral. Given the rarity of Krabbe disease, most recommendations were based on case
series or expert opinion. CONCLUSION:This report updates recommendations for Krabbe
disease newborn screening to improve the timeliness of diagnosis and treatment of
infantile Krabbe disease. In the United States, several states have begun or are considering
Krabbe disease newborn screening. These recommendations can guide public health laboratories
on methodologies for screening and inform clinicians about the need to promptly diagnose
and treat infantile Krabbe disease. The timing of the initial referral after newborn
screening, the speed of diagnostic confirmation of infantile disease, and the transplantation
center's experience and ability to rapidly respond to a suspected patient with newly
diagnosed infantile Krabbe disease are critical for optimal outcomes.
Type
Journal articleSubject
HumansLeukodystrophy, Globoid Cell
Neonatal Screening
Hematopoietic Stem Cell Transplantation
Consensus
Infant
Infant, Newborn
United States
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https://hdl.handle.net/10161/24586Published Version (Please cite this version)
10.1186/s13023-018-0766-xPublication Info
Kwon, Jennifer M; Matern, Dietrich; Kurtzberg, Joanne; Wrabetz, Lawrence; Gelb, Michael
H; Wenger, David A; ... Orsini, Joseph J (2018). Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe
disease. Orphanet journal of rare diseases, 13(1). pp. 30. 10.1186/s13023-018-0766-x. Retrieved from https://hdl.handle.net/10161/24586.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Joanne Kurtzberg
Jerome S. Harris Distinguished Professor of Pediatrics
Dr. Kurtzberg is an internationally renowned expert in pediatric hematology/oncology,
pediatric blood and marrow transplantation, umbilical cord blood banking and transplantation,
and novel applications of cord blood and birthing tissues in the emerging fields of
cellular therapies and regenerative medicine. Dr. Kurtzberg serves as the Director
of the Marcus Center for Cellular Cures (MC3), Director of the Pediatric Transplant
and Cellular Therapy Program, Director of the Carolina

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