Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.

Cindy LiAnkit K DesaiPunita GuptaKatherine DempseyVikas BhambhaniRobert J HopkinCan FiciciogluPranoot TanpaiboonWilliam J CraigenAmy S RosenbergPriya S Kishnani

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Our preliminary data suggest that early treatment with ERT + ITI can transform the long-term CRIM-negative IPD phenotype, which represents the most severe end of the Pompe disease spectrum.

Keyphrases

replacement therapy
smoking cessation
late onset
electronic health record
machine learning