LAUSR

Infantile Krabbe Disease (IKD) can be treated with hematopoietic cell transplantation (HCT) if done during the first weeks of life before symptoms develop. To facilitate this, newborn screening (NBS) has been instituted in eight U.S. states. An application to add KD to the Recommended NBS Panel (RUSP) is currently under review. In this report, the outcomes of newborns with IKD diagnosed through NBS and treated with HCT are presented. The unique challenges associated with NBS for this disease are discussed including opportunities for earlier diagnosis and streamlining treatment referrals. This is a retrospective review of infants with IKD detected by NBS and referred for HCT. The timing from diagnosis to HCT were examined and both HCT and neurodevelopmental outcomes are described. Six infants were diagnosed and referred for HCT. Neurologic testing before HCT revealed evidence of active IKD in all infants. All underwent HCT between 24-40 days of age, successfully engrafted, and are alive 30-58 months later (median, 47.5 months). All are gaining developmental milestones albeit at a slower pace than unaffected age-matched peers. Gross motor function is most notably affected. NBS for these patients enabled early access to HCT, the only currently available treatment for infants with IKD. All children are alive and have derived developmental and neurologic benefits from timely HCT. Long-term follow up is ongoing. Optimization of HCT and further development of emerging therapies, all of which must be delivered early in life, are expected to further improve outcomes of infants with IKD.