Pompe disease: even with very early treatment, the risk of upper airway abnormalities remains

Early enzyme replacement therapy (ERT) improve long-term outcomes in patients with infantile-onset Pompe disease (IOPD).

In this study, the cohort of patients with IOPD at Taipei Veterans General Hospital (TVGH) joined Taiwan Pompe newborn screening program from 2008, testing more than one million newborns until 2018. By 2010, the authors had established rapid diagnostic strategies. Now, the average age of ERT initiation starts at an average age of <10 days-old, the earliest group in the world. However, they still presented some airway problems.

The researchers present a retrospective study focused on airway abnormalities in these patients along 8 years of observation. Fifteen patients with IOPD, who received very early treatment at a mean age of 8.94 ± 3.75 days, underwent flexible bronchoscopy (FB) for dynamic assessment of the whole airway. Long-term clinical outcomes and relevant symptoms of the upper airway were assessed. All patients in the study had varying degrees of severity of upper airway abnormalities and speech disorders. The three oldest children (Age 94, 93, and 88 months, respectively) had poor movement of the vocal cords with reduced abduction and adduction and had silent aspiration of saliva through the glottis during respiration.

This is the largest cohort study presented to date about airway abnormalities in very early treated patients with IOPD patients by FB. Despite very early treatment, the authors observed upper airway abnormalities in these IOPD patients. In IOPD, upper airway abnormalities seem inevitable over time. They suggest early and continuous monitoring for all IOPD patients, even with early and regular treatment.


Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy. Yang CF, Niu DM, Tai SK, Wang TH, Su HT, Huang LY, Soong WJ Am J Med Genet A. 2020 (Janv).