OBJECTIVES: Late-onset Pompe disease (LOPD) is a rare inherited genetic disorder, with an estimated global prevalence of 1 in 57,000 people. LOPD is progressive with significant heterogeneity between patients. It is critical to explore the patient’s view to understand the true burden of disease. Several studies have demonstrated the impact of LOPD on quality of life (QoL) using patient reported outcome measures (PROMs). To our knowledge this is the first study combining PROM data (36-item short-form [SF-36]) with insights regarding patients’ individual self-reported perceptions of whether their LOPD was stable, declining or improving.

METHODS: With the assistance of patient advocacy organizations, 41 adult participants from France, Italy, the Netherlands, and Australia were recruited. Patients were eligible based on currently receiving enzyme replacement therapy for LOPD and not currently taking part in a blinded clinical trial. The SF-36 was used, in conjunction with a qualitative survey, to understand how the disease status of patients related to their self-reported burden of disease.

RESULTS: Overall SF-36 scores were consistent with previously published literature. Only 4 (10%) patients felt their disease was improving whilst 23 (56%) reported it declining. There was an increasing negative effect on SF-36 general health and physical functioning scores for individuals using both physical and ventilative support compared to either used alone, whereas emotional wellbeing remained more stable. Generally, those LOPD patients self-reporting perceived improvement in disease status had the highest SF-36 scores, followed by those reporting perceived stabilization, and then those reporting decline.

CONCLUSIONS: This is the first study comparing the effect of LOPD in terms of patient perceptions about their disease status and their SF-36 scores, and the additive impact of physical aids and/or ventilation. Considering the heterogenous nature of LOPD, using PROMs and patient perceptions of disease progression and burden provides important context for understanding individual QoL impact.