Burden of illness of Duchenne muscular dystrophy in Belgium: A retrospective, descriptive, cross-sectional study

Duchenne muscular dystrophy (DMD) is a progressive, neuromuscular disorder with significant morbidity and mortality. This study aimed to quantify the socioeconomic burden of DMD in Belgium, assessing direct medical and non-medical costs, indirect costs and health-related quality of life (HRQoL) using the University of Leicester's 8-stage model for DMD. A descriptive, retrospective, cross-sectional burden-of-illness study was conducted at an expert DMD center in Belgium between 02-11-2023 and 16-06-2024. One pediatric and one adult neuromuscular specialist from the University Hospitals Leuven completed an electronic Case Report Form using patient electronic medical records capturing demographics, clinical data, and data on healthcare resource utilization over the prior 12 months. Patients under medical follow-up were invited to participate and provided written informed consent (N = 40). Costs were sourced through the Belgian National Institute for Health and Disability Insurance and the Belgian Center for Pharmacotherapeutic Information. A questionnaire was given to the participants and their parents to collect additional costs, HRQoL, and caregiver burden. The estimated mean annual societal cost per Belgian DMD patient was €134,337, with costs ranging from €115,336 in early disease stages to €153,339 in late disease stages. Direct non-medical costs were the largest contributor, followed by indirect costs, primarily due to loss of productivity. HRQoL declined with disease progression. Caregiver burden remained high across all disease stages. DMD imposes a significant socioeconomic burden on patients, caregivers, and society in Belgium. The findings underscore the importance of improving access to supportive therapies and interventions.