OBJECTIVES: Osteogenesis imperfecta (OI) is a genetic disease caused by disorders in collagen associated with reduction in bone mass, bone fragility, and fractures. The objective of this analysis was to understand the fracture burden of OI and to explore factors impacting fracture management, including those managed at home.

METHODS: Adults with OI and caregivers of children with OI were recruited through patient advocacy organizations. Participants completed an IRB-approved online survey regarding OI diagnosis, symptoms, fractures, and management through the Momentive platform between December 2021 and July 2023.

RESULTS: Data was analyzed from 84 participants. In the last 5 years, 74% experienced a fracture (62/84), with children (n=24) experiencing a higher fracture occurrence in the last 5 years (83%). The overall per patient per year (PPPY) average fracture rate in the last 5 years was 0.95. Patients who had ever experienced a fracture had an average of 1.7 fractures PPPY in the last 5 years, 54% of which were managed at home. Type I (n=41), type III (n=13), type IV (n=10) and other OI types (n=20) managed 29%, 67%, 63%, and 55% of their fractures at home in the last 5 years. 57% of patients reported ever using bisphosphonates (BP). These patients had higher average fractures PPPY ≤5 years (1.3 vs 0.5 no BP), and 60% of their fractures were managed at home in the last 5 years (vs 50% no BP). Additional investigations will assess factors associated with home management of fractures.

CONCLUSIONS: Patients with OI, especially children and those on BP, reported a higher fracture burden. The results demonstrated that at least half of all fractures were managed at home, suggesting that fractures in the healthcare system are under reported. These results increase the importance and understanding of fracture management in OI and overall disease burden.