Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Pompe disease is a lysosomal disorder associated with respiratory muscle weakness and a high risk of sleep-disordered breathing (SDB). The impact of enzyme replacement therapy (ERT) on respiratory parameters remains insufficiently analyzed. The aim of the study was to retrospectively review the polysomnographic/polygraphic (PSG/PG) characteristics and longitudinal trajectories of 22 children with Pompe disease in an era of universal access to ERT in France. Nineteen patients had Infantile-Onset Pompe disease (IOPD) and three had Late-Onset Pompe disease (LOPD). For the IOPD subgroup, the median age at diagnosis was 2 (0-8) months and ERT was started at 2.5 (0.5-10) months. Seven patients had mild obstructive sleep apnea (OSA) with one patient having associated hypercapnia and one patient had moderate OSA. For the LOPD subgroup, the median age at diagnosis was 36 (0-48) months and ERT was started at 39 (0-52) months. One patient had moderate OSA with hypercapnia. Of the IOPD patients, after their baseline PSG/PG, two patients were weaned from NIV and two patients were initiated on long-term NIV. Among the LOPD patients, one patient continued NIV after his baseline PSG/PG. Regarding follow-up PSG/PG for the IOPD patients, one patient was successfully weaned from NIV, and one continued long-term NIV. Our findings suggest that, in a cohort of patients receiving ERT, nocturnal respiratory function is largely preserved, and that early diagnosis and prompt initiation of ERT may mitigate the progression of respiratory disease, which has historically been associated with a poor prognosis.