Epidemiology and healthcare resource utilisation associated with Duchenne muscular dystrophy

Abstract Background This study aimed to describe the prevalence of Duchenne muscular dystrophy (DMD) and associated healthcare resource utilisation and costs from an England perspective. Methods Patients with DMD were selected by recorded diagnoses from the Clinical Practice Research Datalink Aurum database and matched to non-DMD controls. The point prevalence of DMD (2020) was estimated. Primary care, inpatient, outpatient, and A&E department contacts and prescription items emanating from primary care were aggregated and their costs were compared between cases and controls. People with DMD were further classified by ambulatory phase and ventilation status and respective costs presented. Results The point prevalence of DMD in 2020 was 3.23 per 100,0000 (95% confidence interval [CI] 2.82–3.63). There was a significant increase in contacts in all healthcare sectors compared to controls: primary care (incidence rate ratios (IRR) = 3.19 (95% CI 3.11–3.28)), inpatient admissions (IRR = 9.24 (95% CI 8.19–10.46)), outpatient appointments (IRR = 11.44 (95% CI 10.95–11.96)) and accident and emergency (IRR = 1.65 (1.52–1.81)). Overall, healthcare costs were almost ten-fold higher (adjusted cost ratio (ACR = 9.33 (95% CI 6.75–12.91)). Healthcare costs increased with the progression of DMD: £2816, on average, in the ambulatory phase; £5700 in the non-ambulatory without-ventilation, and £7634 in the non-ambulatory with ventilation phase. Conclusion DMD was associated with almost a ten-fold increase in healthcare costs. Worsening DMD status, as characterized by non-ambulation and requirement for ventilation, was associated with increased costs. However, the use of standard tariffs may underestimate the true financial burden of the condition. This assessment excluded social care and carer costs some of which will encompass medical needs and may contribute significantly to the cost burden of DMD.