Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

ABSTRACT:

Purpose

Infantile Pompe disease resulting from a deficiency of lysosomal acid α-glucosidase (GAA) requires enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA). Cross-reactive immunologic material negative (CRIM-negative) Pompe patients develop high-titer antibody to the rhGAA and do poorly. We describe successful tolerance induction in CRIM-negative patients.

Methods

Two CRIM-negative patients with preexisting anti-GAA antibodies were treated therapeutically with rituximab, methotrexate, and gammaglobulins. Two additional CRIM-negative patients were treated prophylactically with a short course of rituximab and methotrexate, in parallel with initiating rhGAA.

Results

In both patients treated therapeutically, anti-rhGAA was eliminated after 3 and 19 mont

SUBMITTER: Messinger YH 

PROVIDER: S-EPMC3711224 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature