Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease.

Abstract

Pompe disease (PD), a severe inherited metabolic myopathy caused by the deficiency of acid α-glucosidase (GAA), is characterized by progressive myopathy with reduced muscle strength, endurance, and respiratory insufficiency. The primary GAA deficiency treatment is enzyme replacement therapy (ERT) with alglucosidase alfa; however, its long-term efficacy seems to diminish with time. In 2021, a new ERT medication, avalglucosidase alfa, was approved for patients over 6 months of age with PD in Taiwan. This study presents the first real-world data focusing on improvements in airway abnormalities through a multifaceted analysis. A 19-year-old male patient was diagnosed with late-onset PD 6 years and 8 months ago and treated with alglucosidase alfa for 52 months before switching to avalglucosidase alfa for 28 months. Multifaceted clinical performance metrics, including airway abnormalities, were recorded using a flexible bronchoscope. The therapy switch improved airway abnormalities, as demonstrated by flexible bronchoscopy in polysomnography results, activity endurance, core muscle strength, body mass index, and disease-specific biomarkers, including creatine kinase, aspartate transaminase, and urinary glucose tetrasaccharide (Glc4) levels. This study highlights the potential benefits of avalglucosidase alfa in managing respiratory outcomes in patients with late-onset PD, suggesting its promising effects for long-term treatment.