Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

Abstract
Infantile Pompe's disease is due to a deficiency of lysosomal acid alpha glucosidase (GAA). In patients in whom GAA is not produced, a status called cross-reacting immunologic material (CRIM)–negative, enzyme-replacement therapy with recombinant human GAA (rhGAA) has uniformly led to high titers of anti-rhGAA antibody, with an ultimately fatal outcome.1 Previous attempts at eliminating rhGAA antibodies in these patients have failed.1-3 We report the successful induction of immune modulation in a CRIM-negative patient with Pompe's disease who continues to be antibody-free at 24 months of age and continues to gain motor milestones.