Abstract
Newborn screening (NBS) for Krabbe disease (KD) is currently underway in eight states in the USA, and there is continued discussion of whether to implement KD NBS in additional states. Workgroup members sought to survey a large number of families affected by KD. Families in KD and leukodystrophy family registries were contacted to seek their participation in The Krabbe Newborn Screening—Family Perspective Survey. The 170 respondents are comprised of the following: 138 family members with a KD individual diagnosed after development of symptoms, 20 notified about KD via NBS, and 12 with a KD individual diagnosed through family history of KD. The key results are that all NBS families with an early-infantile KD family member elected to pursue hematopoietic stem cell transplantation therapy. Of the 170 responders, 165 supported the implementation of KD NBS in all states in the USA.
Highlights
Newborn screening (NBS) is warranted when there exists a valuable treatment for a rare disease and when the window of opportunity for effective treatment is lost if patients are diagnosed only after the development of irreversible symptoms
NBS for a leukodystrophy known as Krabbe disease (KD) started in New York state in 2006, soon after it was shown that early cord blood transplantation favorably alters the natural history of the disease [1,2,3]
NBS for KD was added to additional state panels after New York (Illinois, Indiana, Kentucky, Louisiana, Missouri, New Jersey, New Mexico, Ohio, Pennsylvania, South Carolina, Tennessee), and KD NBS has started in Indiana, Kentucky, Missouri, New Jersey, New York, Ohio, Illinois and Tennessee
Summary
Newborn screening (NBS) is warranted when there exists a valuable treatment for a rare disease and when the window of opportunity for effective treatment is lost if patients are diagnosed only after the development of irreversible symptoms. Additional criteria include: (1) an understanding of the natural history of the disease; (2) a high-throughput newborn screening test that gives a minimal number of false positives and negatives; and (3) an ability to establish a post-NBS follow-up plan. NBS for a leukodystrophy known as Krabbe disease (KD) started in New York state in 2006, soon after it was shown that early cord blood transplantation favorably alters the natural history of the disease [1,2,3]. The requirements for adding a new condition to NBS panels differ in each state
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