Economic Burden of Pompe Disease in Colombia

OBJECTIVES: Pompe disease (PD) is a disabling orphan disease that affects the contractility of skeletal, smooth, and cardiac muscle leading to hypotonia and muscle weakness. This study aims to estimate the annual economic burden of PD in Colombia from a healthcare system perspective.

METHODS: Diagnosed cases were identified from national registries. Unidentified cases were estimated using diagnosed cases and a 60% literature under-reporting rate. Diagnosed cases were distributed according to disease classification (infantile onset and late-onset) and treatment status (newly diagnosed, first year and two or more years of treatment).

Cost of care per patient per year including treatment, routinary follow-up and disease-related events, was estimated from HMO’s administrative records (RWD) consisting of 3 consecutive years of care for 7 million members, representative for the disease and national population. The disease-related events occurrence was obtained from scientific literature and validated with clinical experts. Costs are expressed in 2023 USD$.

RESULTS: Based on the under-reporting rate, 125 patients with PD are estimated of whom 50 are diagnosed. For the cost estimation, 25 patients/year were identified in the administrative records database analyzed.

The annual economic burden for diagnosed patients is $8,113,862, representing 0.053% of the total national Basic Benefits Plan. Adults classified as late-onset account for 96.1% of these costs. The average annual cost per patient is $162,277, including the cost of disease-specific medications.

Treatment reduces the cost of event care per patient from $7,086 for the untreated/newly diagnosed patient to 2,646 (62.7% reduction) in the first year of treatment and $2,553 (64.0% reduction) in the following years.

CONCLUSIONS: The disabling nature of PD is associated with high healthcare costs as the disease progresses, especially for late-onset patients. On time diagnosis and treatment allows for better health outcomes, reducing disease-related events and complications, which results in a lower average cost of event care per patient.