Late-onset Pompe disease (LOPD) is a rare neuromuscular disorder, where delays in diagnosis can result in inconsistent patient management and suboptimal use of effective treatments, thereby increasing patient burden. We conducted an exploratory, cross-sectional survey of 20 adults with LOPD in the UK and USA, recruited via patient advocacy groups and vetted databases. Our results showed that patients with LOPD experienced substantial delays from symptom onset to diagnosis. Interactions with healthcare professionals (HCPs) were inconsistent, and LOPD awareness among HCPs was insufficient. Patients were generally satisfied with their treatment, with 90% of patients reporting mild to no discomfort with enzyme replacement therapy or other treatments. However, 60% of patients implemented various nonpharmacological therapies to manage pain or other aspects of LOPD. These exploratory findings highlight persistent gaps in diagnosis and care, emphasizing the need for improved HCP education and integrated support services.
Gallarda et al. (Sun,) studied this question.