OBJECTIVES: Osteogenesis imperfecta (OI) is characterized by frequent fractures caused by the malformation of type I collagen. Fractures cause severe chronic pain and can result in loss of mobility and skeletal deformities. Managing the acute and chronic impact of frequent fractures imposes a significant cost on healthcare payers. The objective of this study was to estimate the benefits to patients and healthcare payers of reduced fracture incidence in OI.

METHODS: A discrete event microsimulation model with cycles defined by fractures was used to quantify lifetime outcomes in OI. Modelled fracture incidence impacted patient mobility and skeletal deformities, and indirectly impacted mortality through fracture sequelae. Two scenarios were considered, one representing current standard of care (SOC), and one exploring the impact of an assumed percentage reduction in fracture incidence. Costs from a UK payer perspective and utility estimates were sourced from the published literature and discounted at a rate of 3.5% annually.

RESULTS: Patients with OI were estimated to have a life expectancy of 61.9 life years (LYs) and to experience 39 total fractures; this translated to total QALYs of 28.7 per patient. Reducing fracture incidence improved patient outcomes, with LYs and QALYs of 67.3 and 40.1, respectively, or an improvement of 5.4 and 11.3 versus SOC. Fracture incidence in the SOC alternative resulted in total lifetime costs of £130,554, with reduction in fracture incidence resulting in a saving of £58,480 per patient. This corresponds to a net-monetary benefit of £398,539 at a willingness-to-pay threshold of £30,000/QALY.

CONCLUSIONS: Fractures have a substantial impact on people living with OI and payers. New interventions targeted at reducing risk of fracture in OI have the potential to significantly reduce the burden of OI on both people living with OI and healthcare payers.