Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.

ABSTRACT:

Purpose

This study details the long-term clinical outcomes in adult participants with CRIM-positive infantile-onset Pompe disease treated with enzyme replacement therapy (ERT), initially reported in 2012 (n = 11).

Methods

Medical records were reviewed for multisystem involvement and biomarker trends. Central nervous system involvement was evaluated using a Modified Fazekas Score to grade white matter hyperintensities on brain magnetic resonance imaging.

Results

Of the initial 11 participants, 8 had survived to adulthood (median age 19.6 years), and 3 died (2 of arrhythmia, 1 of status epilepticus). All survivors began ERT between 0.2 to 6 months of age (7 at 20 mg/kg biweekly; 1 at 40 mg/kg biweekly), with subsequent escalation to 40 mg/kg/week of alglucosidase alfa b

SUBMITTER: Regmi N 

PROVIDER: S-EPMC12765575 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature