Abstract
Infantile Pompe disease is a fatal autosomal recessive lysosomal storage disease caused by deficiency of acid alpha glucosidase (GAA). Patients are either unable to form the native enzyme [cross reactive immunologic material (CRIM)–negative patients], or they synthesize non-functional protein designated CRIM–positive patients. Enzyme replacement therapy with recombinant human GAA (rhGAA) prolongs survival in infantile Pompe patients. However, long-term retrospective analysis revealed that CRIM–negative status is associated with poorer clinical outcome and reduced overall survival mediated, in part by development of early and high serotiters of antibody to the exogenous protein.
Published Version
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