Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

PS Kishnani, PC Goldenberg, SL DeArmey… - Molecular genetics and …, 2010 - Elsevier
Deficiency of acid alpha glucosidase (GAA) causes Pompe disease, which is usually fatal if
onset occurs in infancy. Patients synthesize a non-functional form of GAA or are unable to
form native enzyme. Enzyme replacement therapy with recombinant human GAA (rhGAA)
prolongs survival in infantile Pompe patients but may be less effective in cross-reactive
immunologic material (CRIM)-negative patients. We retrospectively analyzed the influence
of CRIM status on outcome in 21 CRIM-positive and 11 CRIM-negative infantile Pompe …