Respiratory function in late onset Pompe disease patients upon long-term enzyme replacement therapy

Aims: The impairment of respiratory function is the most important prognostic factor in patients with late-onset Pompe disease. The effect of long-term enzyme replacement therapy (ERT) on respiratory function remains unclear. Patients/ Methods: In a prospective single center study, pulmonary function of 6 patients (34–66 years) with genetically confirmed adult onset Pompe disease was monitored. (maximal vital capacity (VCmax), FEV1, PEF, blood gases) were measured at baseline and every 6 months during ERT over a period of 48 months. VC in sitting and supine position, PI max (maximal inspiration pressure), P01, a…