A review of linked databases investigating resource use and real-world outcomes for English Pompe disease (PD) patients reveals that the condition remains a substantial burden to the health care system, according to a novel study abstract published in the journal Value in Health.

The researchers performed a retrospective analysis of primary and secondary electronic health care records between 2000 and 2019 using clinical practice research datalink and hospital episode statistics in order to investigate the disease burden, resource utilization, and real-world outcomes for Pompe patients in England. They estimated the costs using personal social services research unit reference costs and National Health Service (NHS) tariffs.

The clinical practice research datalink analysis identified 108 patients, including 12 people with the more severe infantile-onset Pompe disease (IOPD) and 96 patients with late-onset Pompe disease (LOPD). The linked data were available for 53 individuals.

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According to the results, the prevalence was estimated at 0.706 per 100,000 individuals. The mean annual health care resource cost per IOPD/LOPD patient was assessed at 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 and 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).

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The overall survival rate for LOPD patients was 88.8% at 5 years and 82.4% at 10 years from the first recorded diagnosis, while wheelchair use was recorded for 17% of LOPD patients. Insufficient survival and wheelchair use data were available for individuals with IOPD.

“Combined primary and secondary datasets highlight the substantial burden of PD, in particular IOPD. It is likely underestimated, given the limitations of the data sources for recording factors such as wheelchair use,” Malottki and colleagues noted.

PD is a rare disorder causing progressive muscle weakness and increasing disability that is often recorded in primary care institutions and treated in specialist centers. 


K Malottki, R Lawson, S Beecroft, et al. RWD5 using linked databases to explore resource use and real-world outcomes in a rare disease: Pompe disease in England. Value Health. December 2022. doi:10.1016/j.jval.2022.09.2230