Pompe Disease in Sweden: A Real-World Evidence Study Investigating Healthcare Resource Utilisation and Costs
Author(s)
Alasdair MacCulloch, PhD1, Sofia Nordin, PhD2, Marta N. Stelmaszuk, MS3, Anne-Berit Ekström, PhD4, Björn Lindvall, MD5, Jonatan Freilich, PhD3, Ryan Graham, MBChB1;
1Amicus Therapeutics UK Ltd, Marlow, United Kingdom, 2Amicus Therapeutics, Copenhagen, Denmark, 3Parexel International, Stockholm, Sweden, 4University of Gothenburg, Department of Pediatrics, Gothenburg, Sweden, 5University Hospital, Department of Neurology, Örebro, Sweden
1Amicus Therapeutics UK Ltd, Marlow, United Kingdom, 2Amicus Therapeutics, Copenhagen, Denmark, 3Parexel International, Stockholm, Sweden, 4University of Gothenburg, Department of Pediatrics, Gothenburg, Sweden, 5University Hospital, Department of Neurology, Örebro, Sweden
Presentation Documents
OBJECTIVES: Primary objective: to estimate the prevalence and incidence of Pompe disease (PD) in Sweden. Key secondary objectives: to estimate healthcare resource utilisation (HRU), overall cost, and time to key health outcomes.
METHODS: This retrospective, observational study used secondary data from national quality and administrative registers, including the Swedish National Registry for Neuromuscular Disorders (NMiS). The study included patients who had been diagnosed with PD between 2005 and 31 December 2022 (cross-sectional time point; CSTP). The NMiS Steering Committee approved subgroups of ≥3 patients for unmasking. All study objectives were described with descriptive statistics. Continuous variables were summarised as median (interquartile range; IQR), mean (standard deviation), and number of observations (n). HRU included the number of in-/outpatient visits and length of inpatient stay for PD per patient. Overall cost included non-enzyme replacement therapy (ERT) pharmaceutical costs from the Prescribed Drug Register.
RESULTS: Seventeen patients with late-onset PD (LOPD) were included; 14 of these had available data at CSTP with a median (IQR) age of 55.4 (47.2, 69.9) years. Ten patients (71.4%) at CSTP were ambulatory, five (35.7%) used a wheelchair partially/continuously, and six (42.9%) required ventilation support/respiratory management. For those using a wheelchair, median (IQR) age at wheelchair use initiation was 44.1 (32.6, 60.1) years, and age at diagnosis was 28.3 (23.9, 42.4) years. For all patients, median (95% confidence interval) time to first ventilation support/respiratory management was 62.8 (48.9-NA) years. After ERT initiation, the overall annual number of in- and outpatient visits were 1.96 and 6.68 visits/patient/year, with overall costs of 89,583.54 and 47,467.22 SEK/patient/year at CSTP, respectively; non-ERT pharmaceutical overall costs were 4436.05 SEK/patient/year.
CONCLUSIONS: Patients with LOPD in Sweden have a substantial HRU burden driven largely by numerous and costly in- and outpatient visits, emphasising their need for multidisciplinary healthcare resources.
METHODS: This retrospective, observational study used secondary data from national quality and administrative registers, including the Swedish National Registry for Neuromuscular Disorders (NMiS). The study included patients who had been diagnosed with PD between 2005 and 31 December 2022 (cross-sectional time point; CSTP). The NMiS Steering Committee approved subgroups of ≥3 patients for unmasking. All study objectives were described with descriptive statistics. Continuous variables were summarised as median (interquartile range; IQR), mean (standard deviation), and number of observations (n). HRU included the number of in-/outpatient visits and length of inpatient stay for PD per patient. Overall cost included non-enzyme replacement therapy (ERT) pharmaceutical costs from the Prescribed Drug Register.
RESULTS: Seventeen patients with late-onset PD (LOPD) were included; 14 of these had available data at CSTP with a median (IQR) age of 55.4 (47.2, 69.9) years. Ten patients (71.4%) at CSTP were ambulatory, five (35.7%) used a wheelchair partially/continuously, and six (42.9%) required ventilation support/respiratory management. For those using a wheelchair, median (IQR) age at wheelchair use initiation was 44.1 (32.6, 60.1) years, and age at diagnosis was 28.3 (23.9, 42.4) years. For all patients, median (95% confidence interval) time to first ventilation support/respiratory management was 62.8 (48.9-NA) years. After ERT initiation, the overall annual number of in- and outpatient visits were 1.96 and 6.68 visits/patient/year, with overall costs of 89,583.54 and 47,467.22 SEK/patient/year at CSTP, respectively; non-ERT pharmaceutical overall costs were 4436.05 SEK/patient/year.
CONCLUSIONS: Patients with LOPD in Sweden have a substantial HRU burden driven largely by numerous and costly in- and outpatient visits, emphasising their need for multidisciplinary healthcare resources.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
EE215
Topic
Economic Evaluation
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
SDC: Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), SDC: Rare & Orphan Diseases