Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.

ABSTRACT:

Purpose

To assess the benefits of early enzyme replacement therapy (ERT) in patients with infantile-onset Pompe disease (IOPD).

Methods

A retrospective chart review of 17 IOPD (7 cross-reactive immunologic material [CRIM]-negative and 10 CRIM positive) who initiated ERT (alglucosidase alfa) ≤4 weeks of age and had ≥18 months follow-up was performed.

Results

Patients received starting doses of 20 mg/kg/every other week (n = 11), 20 mg/kg/week (n = 3), or 40 mg/kg/week (n = 3). Six CRIM-negative and 2 patients who were CRIM positive received immune tolerance induction (ITI) with Rituximab+Methotrexate+intravenous immunoglobulin. Five patients who were CRIM positive received transient low-dose methotrexate. All CRIM-negative patients were immune tole

SUBMITTER: Desai AK 

PROVIDER: S-EPMC12796937 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature