Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening

Enzyme replacement therapy (ERT) with alglucosidase alfa has improved clinical outcomes and prolonged survival for patients with infantile Pompe disease (IPD). However, patients characterised as Cross-Reactive Immunological Material (CRIM)negative (CN) mount an immune response against ERT resulting in clinical decline and, ultimately, death. A prophylactic immune tolerance induction (ITI) protocol has been successful in preventing the development of antibody titres for these patients. A subset of (CP) patients also mount an immune response with poor clinical outcomes, these at-risk patients are diffi cult to identify. With the advent of newborn screening for Pompe disease, preventative treatment to circumvent an immune response is warranted; therefore, our study aimed to assess the safety and effi cacy of prophylactic ITI in the naive setting for both CP and CN IPD patients.