Real-world data of fracture rates and musculoskeletal disorders for patients living with osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a genetic disease characterized by bone fragility and recurrent fractures. Fracture rate has been advocated as an important endpoint for evaluating investigative therapies in OI, but real-world data on fracture burden in the OI population are lacking. This retrospective US claims database study aimed to quantify fracture rate and the occurrence of musculoskeletal disorders among patients with OI of all ages and in a subgroup of patients who were treated with ≥1 off-label therapies. 5722 patients with OI were identified in the IQVIA PharMetrics Plus database and 2095 (55.7% female; 35.1% peds; 20% with OI-related treatments; 87.1% commercial-insured) met eligibility criteria and were included in analyses. About 40% of patients with OI and 37% of those with off-label treatments had a fracture within 1 yr of diagnosis (index date for all OI) or treatment (index date for OI-treated). The annual average fracture rates of these groups were 0.84 and 0.98, respectively. Matched non-OI comparators had 3% fracture occurrence and a 0.03 annual fracture rate. Among patients with ≥1 fracture episode, the annualized median fracture rate was 2 per year for both OI and OI-treated cohorts and 1 for the non-OI cohort. Pediatric patients had the highest fracture occurrence and fracture rate, both among patients with OI and the subgroup of treated OI patients. Musculoskeletal disorders and diagnosed pain were more frequent in OI patients compared with the non-OI cohort, especially among pediatric age groups and adults 18-<45 yr. Pain and musculoskeletal disorders occurred frequently among OI patients, regardless of fracture occurrence, demonstrating impacts of OI beyond those that can be attributed to fractures. Together, these results highlight a high burden of fracture and other musculoskeletal disorders in a commercially insured population of OI patients, which are not effectively managed by current management strategies or off-label treatments.