OBJECTIVES: Osteogenesis imperfecta (OI) is a hereditary, lifelong, systemic connective tissue disorder characterized by bone fragility and recurrent fractures. This study examines the characteristics and disease burden of OI in the United States (US) using two real-world healthcare databases.

METHODS: This retrospective cohort study included patients with OI in a commercial claims database (PharMetrics Plus) from 10/01/2016–09/30/2021 and replicated in a US-based electronic medical records (EMR) database (TriNetX). Eligible patients require ≥2 OI ICD-10-CM diagnosis codes (Q78.0) ≥30 days apart and had continuous enrollments for at least 12 months. We considered the date of the OI diagnosis confirmation as the index date. We identified key characteristics of patients with OI and explored treatment histories and fracture rates.

RESULTS: From the claims database, we identified 2,178 patients with OI (55.9% female). At index, 32.7% were children or adolescents (<18 years). Among 27.4% (n=596) treated patients, bisphosphonates (544, 25.0%) were the most used treatment. 55.9% (n=1,218) of patients had ≥1 fracture claims during the study period, among whom 15.7% (n=191) were on bisphosphonates before the first fracture. Males had similar fracture rate as females (58.0% vs. 54.3%, p=0.09). Patients with fracture histories had higher treatment rates than those without (34.9% vs. 17.8%, p<0.05). 13.5% (n=293) had ≥1 vertebral fracture claim during the study period. Males and females had similar rates of vertebral fractures (14.8% vs. 12.4%, p=0.12). We identified 4,300 patients with OI from the EMR database and observed consistent findings from both databases: 55.7% (n=2,395) had ≥1 fracture diagnosis during the study period. Among 24.2% (n=1,041) treated patients in TriNetX, bisphosphonates (946, 22.0%) were used most.

CONCLUSIONS: Most patients with OI had ≥1 fractures including vertebral fractures during the study period. The treatment rate of patients was low. The most used treatment was bisphosphonates. Children had higher treatment rates than adults.