Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease.

ABSTRACT: Pompe disease (PD) is a severe life-threatening disease in which enzyme replacement therapy (ERT) with alglucosidase alfa is the only treatment available. Recently it has been shown that antibody formation may have a significant adverse effect on response to ERT. We report a cross-reactive immunologic material (CRIM)-positive PD infant who developed severe infusion-associated reactions (IARs) after 15 uneventful months of ERT. We successfully got the child to tolerate the ERT by a desensitisation protocol. We diluted the total amount of standard alglucosidase alfa infusion (20 mg/kg/dose) to 1/100 (0.2 mg/kg/dose). The original infusion rates were maintained. We doubled this dose every week. No premedication was given. In 8 weeks, we reached the standard dose without any IAR. No further re

SUBMITTER: Baruteau J 

PROVIDER: S-EPMC3897801 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature