OBJECTIVES: Osteogenesis imperfecta (OI) is a genetic disease characterized by bone fragility and recurrent fractures; however, fracture data by body site are limited. This study aims to quantitively and qualitatively better understand fracture burden among individuals with OI.

METHODS: For quantitative assessment, the IQVIA PharMetrics® Plus commercial database was searched between January 2017-February 2020 for individuals in 3 cohorts: confirmed OI (≥2 ICD-10-CM Diagnosis Codes Q78.0 thirty days apart), X-linked hypophosphatemia (XLH, ICD-10-CM E83.31), and the general population without OI or XLH. All selected individuals required ≥12 months of continuous enrollment. Fractures were identified via ICD-10 diagnosis codes and reported by body sites and age groups. For qualitative assessment, insights were gathered from 23 caregivers of individuals with OI through interviews (n=13) and virtual listening sessions (n=10).

RESULTS: Diagnosed fractures at any site occurred in 50% (967/1,949), 15% (817/5,281), and 6% (165,367/3,000,631) of individuals with OI, XLH and the general population, respectively. Time of greatest fracture incidence was <15 years for OI (66%-74%) versus >65 years for comparators (XLH: 27%, general: 11%). Among individuals with OI, the most common fracture sites were tibia/fibula (17%), radius/ulna (15%), and vertebrae (13%). Finger and toe fractures occurred in 7% and 8% of individuals with OI, respectively, versus <1% of comparators, and were highest in children aged 5-12 (13%-21%). Caregivers stated that children often delay reporting fractures or pain; finger and toe fractures occur frequently and are commonly self-splinted at home. Additionally, children delay reporting fractures due to fear of being removed from activities.

CONCLUSIONS: Individuals living with OI, especially children, have a high fracture burden that significantly impacts quality of life. Despite this significantly higher incidence of finger and toe fractures seen in subjects with OI, caregivers report they are often underreported within the medical record and contribute to high disease burden.