OBJECTIVES: Pompe disease is a rare disorder causing progressive muscle weakness and increasing disability. Both infantile- and late-onset forms are recognised (IOPD and LOPD respectively), with the infantile form much more severe in nature. Patients are managed in specialist centres with diagnosis coded using the non-specific ‘Lysosomal Storage Disorders’ umbrella. However, Pompe diagnosis is often recorded in primary care. We aimed to utilise linked primary and secondary care datasets to investigate the disease burden, resource utilisation and real-world outcomes for Pompe patients in England.

METHODS: Retrospective analysis of primary and secondary electronic healthcare records (between 2000-2019) using Clinical Practice Research Datalink (CPRD) and Hospital Episode Statistics (HES) respectively. Costs were estimated using Personal Social Services Research Unit reference costs and NHS tariffs.

RESULTS: 108 patients with Pompe disease were identified (12 IOPD, 96 LOPD) in CPRD and linked data were available for 53. Prevalence was estimated at 0.706 (95% confidence interval, CI: 0.570, 0.864) per 100,000 individuals. Wheelchair use was recorded for 17% LOPD patients and not available for IOPD. The likely disease manifestations prior to diagnosis included respiratory infections (25.0%) and musculoskeletal symptoms (15.7%).

The mean annual healthcare resource use (mean annual cost) per IOPD/LOPD patient was: 0.7/0.2 non-elective inpatient admissions (£3,616/£386), 0.05/0.01 critical care spells (£2,585/£65), 0.3/0.2 elective admissions (£553/£338), 0.4/0.2 Accident & Emergency attendances (£51/£38), 1.6/2.7 outpatient attendances (£93/£217), 10.4/7.5 primary care appointments (£344/£246) and 43.1/45.4 primary care prescriptions (£4,618/£615).

Overall survival for LOPD was 88.8% (95% CI: 80.0, 98.6) at 5 years and 82.4% (95% CI: 71.2, 95.4) at 10 years from first recorded diagnosis. Insufficient survival data was available for IOPD.

CONCLUSIONS: Combined primary and secondary datasets highlight the substantial burden of Pompe disease, in particular IOPD. It is likely underestimated, given the limitations of the data sources for recording factors such as wheelchair use.