Newborn Screening for Krabbe Disease: the New York State Model

Abstract

In this issue, Duffner et al. [1] introduce a clinical protocol developed in response to the implementation of Krabbe disease newborn screening in the state of New York in 2006. The authors are to be commended for creating a comprehensive and, in part, evidence-based newborn screening follow-up protocol. The article describes a standardized clinical evaluation protocol for newborns screening positive for Krabbe disease, criteria for transplantation for the early infantile phenotype, the creation of a clinical research database and registry, and a short-term research study of developmental and functional outcomes. The article serves as an up-to-date review of clinical and diagnostic features of a poorly understood condition for which a great deal of recent interest has been generated. The protocol for newborn screening follow-up for Krabbe disease will prove useful to those entrusted with caring for the children identified. No attempt will be made here to debate the merits of the specific recommendations for evaluation, because the protocol was developed by a multidisciplinary group of experts and there is essentially no evidence base available to justify changes. Fortunately, the protocol will undergo review and revision, as it will be used and re-evaluated regularly and undoubtedly modified as more is learned about Krabbe disease. The authors have responded admirably to the problem presented to them, namely mandated newborn screening for a potentially fatal disorder with a controversial treatment, extreme variability in disease expression with no foolproof way to predict phenotype, and a need for great haste in follow-up. Unfortunately, the article falls short in virtually ignoring the considerable challenges that have arisen with the Krabbe disease newborn screening program. A great deal has been learned about Krabbe disease recently, no doubt in part as a result of successful efforts to focus attention on the disorder by a very effective high-profile patient advocacy group. The Hunter’s Hope Foundation was established by Pro Football Hall of Fame member Jim